Polymorphisms within the canine <it<MLPH </it<gene are associated with dilute coat color in dogs

<p<Abstract</p< <p<Background</p< <p<Pinschers and other dogs with coat color dilution show a characteristic pigmentation phenotype. The fur colors are a lighter shade, e.g. silvery grey (blue) instead of black and a sandy color (Isabella fawn) instead of red or brown. In some dogs the coat color dilution is sometimes accompanied by hair loss and recurrent skin inflammation, the so called color dilution alopecia (CDA) or black hair follicular dysplasia (BHFD). In humans and mice a comparable pigmentation phenotype without any documented hair loss is caused by mutations within the melanophilin gene (<it<MLPH</it<).</p< <p<Results</p< <p<We sequenced the canine <it<MLPH </it<gene and performed a mutation analysis of the <it<MLPH </it<exons in 6 Doberman Pinschers and 5 German Pinschers. A total of 48 sequence variations was identified within and between the breeds. Three families of dogs showed co-segregation for at least one polymorphism in an <it<MLPH </it<exon and the dilute phenotype. No single polymorphism was identified in the coding sequences or at splice sites that is likely to be causative for the dilute phenotype of all dogs examined. In 18 German Pinschers a mutation in exon 7 (R199H) was consistently associated with the dilute phenotype. However, as this mutation was present in homozygous state in four dogs of other breeds with wildtype pigmentation, it seems unlikely that this mutation is truly causative for coat color dilution. In Doberman Pinschers as well as in Large Munsterlanders with BHFD, a set of single nucleotide polymorphisms (SNPs) around exon 2 was identified that show a highly significant association to the dilute phenotype.</p< <p<Conclusion</p< <p<This study provides evidence that coat color dilution is caused by one or more mutations within or near the <it<MLPH </it<gene in several dog breeds. The data on polymorphisms that are strongly associated with the dilute phenotype will allow the genetic testing of Pinschers to facilitate the breeding of dogs with defined coat colors and to select against Large Munsterlanders carrying BHFD.</p< Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Günzel-Apel Anne-Rose [verfasserIn] Mignot Emmanuel [verfasserIn] Nishino Seiji [verfasserIn] Mecklenburg Lars [verfasserIn] Hamann Henning [verfasserIn] Philipp Ute [verfasserIn] Schmutz Sheila M [verfasserIn] Leeb Tosso [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2005

Übergeordnetes Werk:	In: BMC Genetics - BMC, 2003, 6(2005), 1, p 34
Übergeordnetes Werk:	volume:6 ; year:2005 ; number:1, p 34

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1186/1471-2156-6-34

Katalog-ID:	DOAJ022088792

Internformat


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520			\|a <p<Abstract</p< <p<Background</p< <p<Pinschers and other dogs with coat color dilution show a characteristic pigmentation phenotype. The fur colors are a lighter shade, e.g. silvery grey (blue) instead of black and a sandy color (Isabella fawn) instead of red or brown. In some dogs the coat color dilution is sometimes accompanied by hair loss and recurrent skin inflammation, the so called color dilution alopecia (CDA) or black hair follicular dysplasia (BHFD). In humans and mice a comparable pigmentation phenotype without any documented hair loss is caused by mutations within the melanophilin gene (<it<MLPH</it<).</p< <p<Results</p< <p<We sequenced the canine <it<MLPH </it<gene and performed a mutation analysis of the <it<MLPH </it<exons in 6 Doberman Pinschers and 5 German Pinschers. A total of 48 sequence variations was identified within and between the breeds. Three families of dogs showed co-segregation for at least one polymorphism in an <it<MLPH </it<exon and the dilute phenotype. No single polymorphism was identified in the coding sequences or at splice sites that is likely to be causative for the dilute phenotype of all dogs examined. In 18 German Pinschers a mutation in exon 7 (R199H) was consistently associated with the dilute phenotype. However, as this mutation was present in homozygous state in four dogs of other breeds with wildtype pigmentation, it seems unlikely that this mutation is truly causative for coat color dilution. In Doberman Pinschers as well as in Large Munsterlanders with BHFD, a set of single nucleotide polymorphisms (SNPs) around exon 2 was identified that show a highly significant association to the dilute phenotype.</p< <p<Conclusion</p< <p<This study provides evidence that coat color dilution is caused by one or more mutations within or near the <it<MLPH </it<gene in several dog breeds. The data on polymorphisms that are strongly associated with the dilute phenotype will allow the genetic testing of Pinschers to facilitate the breeding of dogs with defined coat colors and to select against Large Munsterlanders carrying BHFD.</p<
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700	0		\|a Mignot Emmanuel \|e verfasserin \|4 aut
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700	0		\|a Leeb Tosso \|e verfasserin \|4 aut
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Indexfelder

author_variant	g a a r gaar m e me n s ns m l ml h h hh p u pu s s m ssm l t lt
matchkey_str	article:14712156:2005----::oyopimwtiteaietlhteerascaewt
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allfields	10.1186/1471-2156-6-34 doi (DE-627)DOAJ022088792 (DE-599)DOAJ6a512f6da7e84db8b04407fa0cb7933e DE-627 ger DE-627 rakwb eng QH426-470 Günzel-Apel Anne-Rose verfasserin aut Polymorphisms within the canine <it<MLPH </it<gene are associated with dilute coat color in dogs 2005 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<Pinschers and other dogs with coat color dilution show a characteristic pigmentation phenotype. The fur colors are a lighter shade, e.g. silvery grey (blue) instead of black and a sandy color (Isabella fawn) instead of red or brown. In some dogs the coat color dilution is sometimes accompanied by hair loss and recurrent skin inflammation, the so called color dilution alopecia (CDA) or black hair follicular dysplasia (BHFD). In humans and mice a comparable pigmentation phenotype without any documented hair loss is caused by mutations within the melanophilin gene (<it<MLPH</it<).</p< <p<Results</p< <p<We sequenced the canine <it<MLPH </it<gene and performed a mutation analysis of the <it<MLPH </it<exons in 6 Doberman Pinschers and 5 German Pinschers. A total of 48 sequence variations was identified within and between the breeds. Three families of dogs showed co-segregation for at least one polymorphism in an <it<MLPH </it<exon and the dilute phenotype. No single polymorphism was identified in the coding sequences or at splice sites that is likely to be causative for the dilute phenotype of all dogs examined. In 18 German Pinschers a mutation in exon 7 (R199H) was consistently associated with the dilute phenotype. However, as this mutation was present in homozygous state in four dogs of other breeds with wildtype pigmentation, it seems unlikely that this mutation is truly causative for coat color dilution. In Doberman Pinschers as well as in Large Munsterlanders with BHFD, a set of single nucleotide polymorphisms (SNPs) around exon 2 was identified that show a highly significant association to the dilute phenotype.</p< <p<Conclusion</p< <p<This study provides evidence that coat color dilution is caused by one or more mutations within or near the <it<MLPH </it<gene in several dog breeds. The data on polymorphisms that are strongly associated with the dilute phenotype will allow the genetic testing of Pinschers to facilitate the breeding of dogs with defined coat colors and to select against Large Munsterlanders carrying BHFD.</p< Genetics Mignot Emmanuel verfasserin aut Nishino Seiji verfasserin aut Mecklenburg Lars verfasserin aut Hamann Henning verfasserin aut Philipp Ute verfasserin aut Schmutz Sheila M verfasserin aut Leeb Tosso verfasserin aut In BMC Genetics BMC, 2003 6(2005), 1, p 34 (DE-627)326644938 (DE-600)2041497-3 14712156 nnns volume:6 year:2005 number:1, p 34 https://doi.org/10.1186/1471-2156-6-34 kostenfrei https://doaj.org/article/6a512f6da7e84db8b04407fa0cb7933e kostenfrei http://www.biomedcentral.com/1471-2156/6/34 kostenfrei https://doaj.org/toc/1471-2156 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 6 2005 1, p 34
spelling	10.1186/1471-2156-6-34 doi (DE-627)DOAJ022088792 (DE-599)DOAJ6a512f6da7e84db8b04407fa0cb7933e DE-627 ger DE-627 rakwb eng QH426-470 Günzel-Apel Anne-Rose verfasserin aut Polymorphisms within the canine <it<MLPH </it<gene are associated with dilute coat color in dogs 2005 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<Pinschers and other dogs with coat color dilution show a characteristic pigmentation phenotype. The fur colors are a lighter shade, e.g. silvery grey (blue) instead of black and a sandy color (Isabella fawn) instead of red or brown. In some dogs the coat color dilution is sometimes accompanied by hair loss and recurrent skin inflammation, the so called color dilution alopecia (CDA) or black hair follicular dysplasia (BHFD). In humans and mice a comparable pigmentation phenotype without any documented hair loss is caused by mutations within the melanophilin gene (<it<MLPH</it<).</p< <p<Results</p< <p<We sequenced the canine <it<MLPH </it<gene and performed a mutation analysis of the <it<MLPH </it<exons in 6 Doberman Pinschers and 5 German Pinschers. A total of 48 sequence variations was identified within and between the breeds. Three families of dogs showed co-segregation for at least one polymorphism in an <it<MLPH </it<exon and the dilute phenotype. No single polymorphism was identified in the coding sequences or at splice sites that is likely to be causative for the dilute phenotype of all dogs examined. In 18 German Pinschers a mutation in exon 7 (R199H) was consistently associated with the dilute phenotype. However, as this mutation was present in homozygous state in four dogs of other breeds with wildtype pigmentation, it seems unlikely that this mutation is truly causative for coat color dilution. In Doberman Pinschers as well as in Large Munsterlanders with BHFD, a set of single nucleotide polymorphisms (SNPs) around exon 2 was identified that show a highly significant association to the dilute phenotype.</p< <p<Conclusion</p< <p<This study provides evidence that coat color dilution is caused by one or more mutations within or near the <it<MLPH </it<gene in several dog breeds. The data on polymorphisms that are strongly associated with the dilute phenotype will allow the genetic testing of Pinschers to facilitate the breeding of dogs with defined coat colors and to select against Large Munsterlanders carrying BHFD.</p< Genetics Mignot Emmanuel verfasserin aut Nishino Seiji verfasserin aut Mecklenburg Lars verfasserin aut Hamann Henning verfasserin aut Philipp Ute verfasserin aut Schmutz Sheila M verfasserin aut Leeb Tosso verfasserin aut In BMC Genetics BMC, 2003 6(2005), 1, p 34 (DE-627)326644938 (DE-600)2041497-3 14712156 nnns volume:6 year:2005 number:1, p 34 https://doi.org/10.1186/1471-2156-6-34 kostenfrei https://doaj.org/article/6a512f6da7e84db8b04407fa0cb7933e kostenfrei http://www.biomedcentral.com/1471-2156/6/34 kostenfrei https://doaj.org/toc/1471-2156 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 6 2005 1, p 34
allfields_unstemmed	10.1186/1471-2156-6-34 doi (DE-627)DOAJ022088792 (DE-599)DOAJ6a512f6da7e84db8b04407fa0cb7933e DE-627 ger DE-627 rakwb eng QH426-470 Günzel-Apel Anne-Rose verfasserin aut Polymorphisms within the canine <it<MLPH </it<gene are associated with dilute coat color in dogs 2005 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<Pinschers and other dogs with coat color dilution show a characteristic pigmentation phenotype. The fur colors are a lighter shade, e.g. silvery grey (blue) instead of black and a sandy color (Isabella fawn) instead of red or brown. In some dogs the coat color dilution is sometimes accompanied by hair loss and recurrent skin inflammation, the so called color dilution alopecia (CDA) or black hair follicular dysplasia (BHFD). In humans and mice a comparable pigmentation phenotype without any documented hair loss is caused by mutations within the melanophilin gene (<it<MLPH</it<).</p< <p<Results</p< <p<We sequenced the canine <it<MLPH </it<gene and performed a mutation analysis of the <it<MLPH </it<exons in 6 Doberman Pinschers and 5 German Pinschers. A total of 48 sequence variations was identified within and between the breeds. Three families of dogs showed co-segregation for at least one polymorphism in an <it<MLPH </it<exon and the dilute phenotype. No single polymorphism was identified in the coding sequences or at splice sites that is likely to be causative for the dilute phenotype of all dogs examined. In 18 German Pinschers a mutation in exon 7 (R199H) was consistently associated with the dilute phenotype. However, as this mutation was present in homozygous state in four dogs of other breeds with wildtype pigmentation, it seems unlikely that this mutation is truly causative for coat color dilution. In Doberman Pinschers as well as in Large Munsterlanders with BHFD, a set of single nucleotide polymorphisms (SNPs) around exon 2 was identified that show a highly significant association to the dilute phenotype.</p< <p<Conclusion</p< <p<This study provides evidence that coat color dilution is caused by one or more mutations within or near the <it<MLPH </it<gene in several dog breeds. The data on polymorphisms that are strongly associated with the dilute phenotype will allow the genetic testing of Pinschers to facilitate the breeding of dogs with defined coat colors and to select against Large Munsterlanders carrying BHFD.</p< Genetics Mignot Emmanuel verfasserin aut Nishino Seiji verfasserin aut Mecklenburg Lars verfasserin aut Hamann Henning verfasserin aut Philipp Ute verfasserin aut Schmutz Sheila M verfasserin aut Leeb Tosso verfasserin aut In BMC Genetics BMC, 2003 6(2005), 1, p 34 (DE-627)326644938 (DE-600)2041497-3 14712156 nnns volume:6 year:2005 number:1, p 34 https://doi.org/10.1186/1471-2156-6-34 kostenfrei https://doaj.org/article/6a512f6da7e84db8b04407fa0cb7933e kostenfrei http://www.biomedcentral.com/1471-2156/6/34 kostenfrei https://doaj.org/toc/1471-2156 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 6 2005 1, p 34
allfieldsGer	10.1186/1471-2156-6-34 doi (DE-627)DOAJ022088792 (DE-599)DOAJ6a512f6da7e84db8b04407fa0cb7933e DE-627 ger DE-627 rakwb eng QH426-470 Günzel-Apel Anne-Rose verfasserin aut Polymorphisms within the canine <it<MLPH </it<gene are associated with dilute coat color in dogs 2005 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<Pinschers and other dogs with coat color dilution show a characteristic pigmentation phenotype. The fur colors are a lighter shade, e.g. silvery grey (blue) instead of black and a sandy color (Isabella fawn) instead of red or brown. In some dogs the coat color dilution is sometimes accompanied by hair loss and recurrent skin inflammation, the so called color dilution alopecia (CDA) or black hair follicular dysplasia (BHFD). In humans and mice a comparable pigmentation phenotype without any documented hair loss is caused by mutations within the melanophilin gene (<it<MLPH</it<).</p< <p<Results</p< <p<We sequenced the canine <it<MLPH </it<gene and performed a mutation analysis of the <it<MLPH </it<exons in 6 Doberman Pinschers and 5 German Pinschers. A total of 48 sequence variations was identified within and between the breeds. Three families of dogs showed co-segregation for at least one polymorphism in an <it<MLPH </it<exon and the dilute phenotype. No single polymorphism was identified in the coding sequences or at splice sites that is likely to be causative for the dilute phenotype of all dogs examined. In 18 German Pinschers a mutation in exon 7 (R199H) was consistently associated with the dilute phenotype. However, as this mutation was present in homozygous state in four dogs of other breeds with wildtype pigmentation, it seems unlikely that this mutation is truly causative for coat color dilution. In Doberman Pinschers as well as in Large Munsterlanders with BHFD, a set of single nucleotide polymorphisms (SNPs) around exon 2 was identified that show a highly significant association to the dilute phenotype.</p< <p<Conclusion</p< <p<This study provides evidence that coat color dilution is caused by one or more mutations within or near the <it<MLPH </it<gene in several dog breeds. The data on polymorphisms that are strongly associated with the dilute phenotype will allow the genetic testing of Pinschers to facilitate the breeding of dogs with defined coat colors and to select against Large Munsterlanders carrying BHFD.</p< Genetics Mignot Emmanuel verfasserin aut Nishino Seiji verfasserin aut Mecklenburg Lars verfasserin aut Hamann Henning verfasserin aut Philipp Ute verfasserin aut Schmutz Sheila M verfasserin aut Leeb Tosso verfasserin aut In BMC Genetics BMC, 2003 6(2005), 1, p 34 (DE-627)326644938 (DE-600)2041497-3 14712156 nnns volume:6 year:2005 number:1, p 34 https://doi.org/10.1186/1471-2156-6-34 kostenfrei https://doaj.org/article/6a512f6da7e84db8b04407fa0cb7933e kostenfrei http://www.biomedcentral.com/1471-2156/6/34 kostenfrei https://doaj.org/toc/1471-2156 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 6 2005 1, p 34
allfieldsSound	10.1186/1471-2156-6-34 doi (DE-627)DOAJ022088792 (DE-599)DOAJ6a512f6da7e84db8b04407fa0cb7933e DE-627 ger DE-627 rakwb eng QH426-470 Günzel-Apel Anne-Rose verfasserin aut Polymorphisms within the canine <it<MLPH </it<gene are associated with dilute coat color in dogs 2005 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<Pinschers and other dogs with coat color dilution show a characteristic pigmentation phenotype. The fur colors are a lighter shade, e.g. silvery grey (blue) instead of black and a sandy color (Isabella fawn) instead of red or brown. In some dogs the coat color dilution is sometimes accompanied by hair loss and recurrent skin inflammation, the so called color dilution alopecia (CDA) or black hair follicular dysplasia (BHFD). In humans and mice a comparable pigmentation phenotype without any documented hair loss is caused by mutations within the melanophilin gene (<it<MLPH</it<).</p< <p<Results</p< <p<We sequenced the canine <it<MLPH </it<gene and performed a mutation analysis of the <it<MLPH </it<exons in 6 Doberman Pinschers and 5 German Pinschers. A total of 48 sequence variations was identified within and between the breeds. Three families of dogs showed co-segregation for at least one polymorphism in an <it<MLPH </it<exon and the dilute phenotype. No single polymorphism was identified in the coding sequences or at splice sites that is likely to be causative for the dilute phenotype of all dogs examined. In 18 German Pinschers a mutation in exon 7 (R199H) was consistently associated with the dilute phenotype. However, as this mutation was present in homozygous state in four dogs of other breeds with wildtype pigmentation, it seems unlikely that this mutation is truly causative for coat color dilution. In Doberman Pinschers as well as in Large Munsterlanders with BHFD, a set of single nucleotide polymorphisms (SNPs) around exon 2 was identified that show a highly significant association to the dilute phenotype.</p< <p<Conclusion</p< <p<This study provides evidence that coat color dilution is caused by one or more mutations within or near the <it<MLPH </it<gene in several dog breeds. The data on polymorphisms that are strongly associated with the dilute phenotype will allow the genetic testing of Pinschers to facilitate the breeding of dogs with defined coat colors and to select against Large Munsterlanders carrying BHFD.</p< Genetics Mignot Emmanuel verfasserin aut Nishino Seiji verfasserin aut Mecklenburg Lars verfasserin aut Hamann Henning verfasserin aut Philipp Ute verfasserin aut Schmutz Sheila M verfasserin aut Leeb Tosso verfasserin aut In BMC Genetics BMC, 2003 6(2005), 1, p 34 (DE-627)326644938 (DE-600)2041497-3 14712156 nnns volume:6 year:2005 number:1, p 34 https://doi.org/10.1186/1471-2156-6-34 kostenfrei https://doaj.org/article/6a512f6da7e84db8b04407fa0cb7933e kostenfrei http://www.biomedcentral.com/1471-2156/6/34 kostenfrei https://doaj.org/toc/1471-2156 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 6 2005 1, p 34
language	English
source	In BMC Genetics 6(2005), 1, p 34 volume:6 year:2005 number:1, p 34
sourceStr	In BMC Genetics 6(2005), 1, p 34 volume:6 year:2005 number:1, p 34
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Genetics
isfreeaccess_bool	true
container_title	BMC Genetics
authorswithroles_txt_mv	Günzel-Apel Anne-Rose @@aut@@ Mignot Emmanuel @@aut@@ Nishino Seiji @@aut@@ Mecklenburg Lars @@aut@@ Hamann Henning @@aut@@ Philipp Ute @@aut@@ Schmutz Sheila M @@aut@@ Leeb Tosso @@aut@@
publishDateDaySort_date	2005-01-01T00:00:00Z
hierarchy_top_id	326644938
id	DOAJ022088792
language_de	englisch
fullrecord	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ022088792</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230307053611.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230226s2005 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1186/1471-2156-6-34</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ022088792</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJ6a512f6da7e84db8b04407fa0cb7933e</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">QH426-470</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">Günzel-Apel Anne-Rose</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Polymorphisms within the canine <it<MLPH </it<gene are associated with dilute coat color in dogs</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2005</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a"><p<Abstract</p< <p<Background</p< <p<Pinschers and other dogs with coat color dilution show a characteristic pigmentation phenotype. The fur colors are a lighter shade, e.g. silvery grey (blue) instead of black and a sandy color (Isabella fawn) instead of red or brown. In some dogs the coat color dilution is sometimes accompanied by hair loss and recurrent skin inflammation, the so called color dilution alopecia (CDA) or black hair follicular dysplasia (BHFD). In humans and mice a comparable pigmentation phenotype without any documented hair loss is caused by mutations within the melanophilin gene (<it<MLPH</it<).</p< <p<Results</p< <p<We sequenced the canine <it<MLPH </it<gene and performed a mutation analysis of the <it<MLPH </it<exons in 6 Doberman Pinschers and 5 German Pinschers. A total of 48 sequence variations was identified within and between the breeds. Three families of dogs showed co-segregation for at least one polymorphism in an <it<MLPH </it<exon and the dilute phenotype. No single polymorphism was identified in the coding sequences or at splice sites that is likely to be causative for the dilute phenotype of all dogs examined. In 18 German Pinschers a mutation in exon 7 (R199H) was consistently associated with the dilute phenotype. However, as this mutation was present in homozygous state in four dogs of other breeds with wildtype pigmentation, it seems unlikely that this mutation is truly causative for coat color dilution. In Doberman Pinschers as well as in Large Munsterlanders with BHFD, a set of single nucleotide polymorphisms (SNPs) around exon 2 was identified that show a highly significant association to the dilute phenotype.</p< <p<Conclusion</p< <p<This study provides evidence that coat color dilution is caused by one or more mutations within or near the <it<MLPH </it<gene in several dog breeds. 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author	Günzel-Apel Anne-Rose
spellingShingle	Günzel-Apel Anne-Rose misc QH426-470 misc Genetics Polymorphisms within the canine <it<MLPH </it<gene are associated with dilute coat color in dogs
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topic_title	QH426-470 Polymorphisms within the canine <it<MLPH </it<gene are associated with dilute coat color in dogs
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title	Polymorphisms within the canine <it<MLPH </it<gene are associated with dilute coat color in dogs
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title_full	Polymorphisms within the canine <it<MLPH </it<gene are associated with dilute coat color in dogs
author_sort	Günzel-Apel Anne-Rose
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author_browse	Günzel-Apel Anne-Rose Mignot Emmanuel Nishino Seiji Mecklenburg Lars Hamann Henning Philipp Ute Schmutz Sheila M Leeb Tosso
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doi_str_mv	10.1186/1471-2156-6-34
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title_sort	polymorphisms within the canine <it<mlph </it<gene are associated with dilute coat color in dogs
callnumber	QH426-470
title_auth	Polymorphisms within the canine <it<MLPH </it<gene are associated with dilute coat color in dogs
abstract	<p<Abstract</p< <p<Background</p< <p<Pinschers and other dogs with coat color dilution show a characteristic pigmentation phenotype. The fur colors are a lighter shade, e.g. silvery grey (blue) instead of black and a sandy color (Isabella fawn) instead of red or brown. In some dogs the coat color dilution is sometimes accompanied by hair loss and recurrent skin inflammation, the so called color dilution alopecia (CDA) or black hair follicular dysplasia (BHFD). In humans and mice a comparable pigmentation phenotype without any documented hair loss is caused by mutations within the melanophilin gene (<it<MLPH</it<).</p< <p<Results</p< <p<We sequenced the canine <it<MLPH </it<gene and performed a mutation analysis of the <it<MLPH </it<exons in 6 Doberman Pinschers and 5 German Pinschers. A total of 48 sequence variations was identified within and between the breeds. Three families of dogs showed co-segregation for at least one polymorphism in an <it<MLPH </it<exon and the dilute phenotype. No single polymorphism was identified in the coding sequences or at splice sites that is likely to be causative for the dilute phenotype of all dogs examined. In 18 German Pinschers a mutation in exon 7 (R199H) was consistently associated with the dilute phenotype. However, as this mutation was present in homozygous state in four dogs of other breeds with wildtype pigmentation, it seems unlikely that this mutation is truly causative for coat color dilution. In Doberman Pinschers as well as in Large Munsterlanders with BHFD, a set of single nucleotide polymorphisms (SNPs) around exon 2 was identified that show a highly significant association to the dilute phenotype.</p< <p<Conclusion</p< <p<This study provides evidence that coat color dilution is caused by one or more mutations within or near the <it<MLPH </it<gene in several dog breeds. The data on polymorphisms that are strongly associated with the dilute phenotype will allow the genetic testing of Pinschers to facilitate the breeding of dogs with defined coat colors and to select against Large Munsterlanders carrying BHFD.</p<
abstractGer	<p<Abstract</p< <p<Background</p< <p<Pinschers and other dogs with coat color dilution show a characteristic pigmentation phenotype. The fur colors are a lighter shade, e.g. silvery grey (blue) instead of black and a sandy color (Isabella fawn) instead of red or brown. In some dogs the coat color dilution is sometimes accompanied by hair loss and recurrent skin inflammation, the so called color dilution alopecia (CDA) or black hair follicular dysplasia (BHFD). In humans and mice a comparable pigmentation phenotype without any documented hair loss is caused by mutations within the melanophilin gene (<it<MLPH</it<).</p< <p<Results</p< <p<We sequenced the canine <it<MLPH </it<gene and performed a mutation analysis of the <it<MLPH </it<exons in 6 Doberman Pinschers and 5 German Pinschers. A total of 48 sequence variations was identified within and between the breeds. Three families of dogs showed co-segregation for at least one polymorphism in an <it<MLPH </it<exon and the dilute phenotype. No single polymorphism was identified in the coding sequences or at splice sites that is likely to be causative for the dilute phenotype of all dogs examined. In 18 German Pinschers a mutation in exon 7 (R199H) was consistently associated with the dilute phenotype. However, as this mutation was present in homozygous state in four dogs of other breeds with wildtype pigmentation, it seems unlikely that this mutation is truly causative for coat color dilution. In Doberman Pinschers as well as in Large Munsterlanders with BHFD, a set of single nucleotide polymorphisms (SNPs) around exon 2 was identified that show a highly significant association to the dilute phenotype.</p< <p<Conclusion</p< <p<This study provides evidence that coat color dilution is caused by one or more mutations within or near the <it<MLPH </it<gene in several dog breeds. The data on polymorphisms that are strongly associated with the dilute phenotype will allow the genetic testing of Pinschers to facilitate the breeding of dogs with defined coat colors and to select against Large Munsterlanders carrying BHFD.</p<
abstract_unstemmed	<p<Abstract</p< <p<Background</p< <p<Pinschers and other dogs with coat color dilution show a characteristic pigmentation phenotype. The fur colors are a lighter shade, e.g. silvery grey (blue) instead of black and a sandy color (Isabella fawn) instead of red or brown. In some dogs the coat color dilution is sometimes accompanied by hair loss and recurrent skin inflammation, the so called color dilution alopecia (CDA) or black hair follicular dysplasia (BHFD). In humans and mice a comparable pigmentation phenotype without any documented hair loss is caused by mutations within the melanophilin gene (<it<MLPH</it<).</p< <p<Results</p< <p<We sequenced the canine <it<MLPH </it<gene and performed a mutation analysis of the <it<MLPH </it<exons in 6 Doberman Pinschers and 5 German Pinschers. A total of 48 sequence variations was identified within and between the breeds. Three families of dogs showed co-segregation for at least one polymorphism in an <it<MLPH </it<exon and the dilute phenotype. No single polymorphism was identified in the coding sequences or at splice sites that is likely to be causative for the dilute phenotype of all dogs examined. In 18 German Pinschers a mutation in exon 7 (R199H) was consistently associated with the dilute phenotype. However, as this mutation was present in homozygous state in four dogs of other breeds with wildtype pigmentation, it seems unlikely that this mutation is truly causative for coat color dilution. In Doberman Pinschers as well as in Large Munsterlanders with BHFD, a set of single nucleotide polymorphisms (SNPs) around exon 2 was identified that show a highly significant association to the dilute phenotype.</p< <p<Conclusion</p< <p<This study provides evidence that coat color dilution is caused by one or more mutations within or near the <it<MLPH </it<gene in several dog breeds. The data on polymorphisms that are strongly associated with the dilute phenotype will allow the genetic testing of Pinschers to facilitate the breeding of dogs with defined coat colors and to select against Large Munsterlanders carrying BHFD.</p<
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title_short	Polymorphisms within the canine <it<MLPH </it<gene are associated with dilute coat color in dogs
url	https://doi.org/10.1186/1471-2156-6-34 https://doaj.org/article/6a512f6da7e84db8b04407fa0cb7933e http://www.biomedcentral.com/1471-2156/6/34 https://doaj.org/toc/1471-2156
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No single polymorphism was identified in the coding sequences or at splice sites that is likely to be causative for the dilute phenotype of all dogs examined. In 18 German Pinschers a mutation in exon 7 (R199H) was consistently associated with the dilute phenotype. However, as this mutation was present in homozygous state in four dogs of other breeds with wildtype pigmentation, it seems unlikely that this mutation is truly causative for coat color dilution. In Doberman Pinschers as well as in Large Munsterlanders with BHFD, a set of single nucleotide polymorphisms (SNPs) around exon 2 was identified that show a highly significant association to the dilute phenotype.</p< <p<Conclusion</p< <p<This study provides evidence that coat color dilution is caused by one or more mutations within or near the <it<MLPH </it<gene in several dog breeds. 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Polymorphisms within the canine <it<MLPH </it<gene are associated with dilute coat color in dogs

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