Molecular Analysis of the <i<ABCA4</i< Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
<i<ABCA4</i< gene mutations are the cause of a spectrum of <i<ABCA4</i< retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. <i<ABCA4</i< has previously been observed almost exclusively in the retina. Therefore, studying th...
Ausführliche Beschreibung
Autor*in: |
Aneta Ścieżyńska [verfasserIn] Marta Soszyńska [verfasserIn] Michał Komorowski [verfasserIn] Anna Podgórska [verfasserIn] Natalia Krześniak [verfasserIn] Aleksandra Nogowska [verfasserIn] Martyna Smolińska [verfasserIn] Kamil Szulborski [verfasserIn] Jacek P. Szaflik [verfasserIn] Bartłomiej Noszczyk [verfasserIn] Monika Ołdak [verfasserIn] Jacek Malejczyk [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2020 |
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Übergeordnetes Werk: |
In: International Journal of Molecular Sciences - MDPI AG, 2003, 21(2020), 10, p 3430 |
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Übergeordnetes Werk: |
volume:21 ; year:2020 ; number:10, p 3430 |
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Link aufrufen |
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DOI / URN: |
10.3390/ijms21103430 |
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DOAJ075041510 |
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520 | |a <i<ABCA4</i< gene mutations are the cause of a spectrum of <i<ABCA4</i< retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. <i<ABCA4</i< has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of <i<ABCA4</i< variants has required advanced molecular analysis techniques. The aim of the present study was to evaluate whether human hair follicles may be used for molecular analysis of the <i<ABCA4</i< gene splice-site variants in patients with <i<ABCA4</i< retinopathies. We assessed <i<ABCA4</i< expression in hair follicles and skin at mRNA and protein levels by means of real-time PCR and Western blot analyses, respectively. We performed cDNA sequencing to reveal the presence of full-length <i<ABCA4</i< transcripts and analyzed <i<ABCA4</i< transcripts from three patients with Stargardt disease carrying different splice-site <i<ABCA4</i< variants: c.5312+1G<A, c.5312+2T<G and c.5836-3C<A. cDNA analysis revealed that c.5312+1G<A, c.5312+2T<G variants led to the skipping of exon 37, and the c.5836-3C<A variant resulted in the insertion of 30 nucleotides into the transcript. Our results strongly argue for the use of hair follicles as a model for the molecular analysis of the pathogenicity of <i<ABCA4</i< variants in patients with <i<ABCA4</i< retinopathies. | ||
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10.3390/ijms21103430 doi (DE-627)DOAJ075041510 (DE-599)DOAJee02d04463ff460792334754fdb4172f DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Aneta Ścieżyńska verfasserin aut Molecular Analysis of the <i<ABCA4</i< Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <i<ABCA4</i< gene mutations are the cause of a spectrum of <i<ABCA4</i< retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. <i<ABCA4</i< has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of <i<ABCA4</i< variants has required advanced molecular analysis techniques. The aim of the present study was to evaluate whether human hair follicles may be used for molecular analysis of the <i<ABCA4</i< gene splice-site variants in patients with <i<ABCA4</i< retinopathies. We assessed <i<ABCA4</i< expression in hair follicles and skin at mRNA and protein levels by means of real-time PCR and Western blot analyses, respectively. We performed cDNA sequencing to reveal the presence of full-length <i<ABCA4</i< transcripts and analyzed <i<ABCA4</i< transcripts from three patients with Stargardt disease carrying different splice-site <i<ABCA4</i< variants: c.5312+1G<A, c.5312+2T<G and c.5836-3C<A. cDNA analysis revealed that c.5312+1G<A, c.5312+2T<G variants led to the skipping of exon 37, and the c.5836-3C<A variant resulted in the insertion of 30 nucleotides into the transcript. Our results strongly argue for the use of hair follicles as a model for the molecular analysis of the pathogenicity of <i<ABCA4</i< variants in patients with <i<ABCA4</i< retinopathies. hair follicles <i<ABCA4</i< gene mutations Stargardt disease <i<ABCA4</i< retinopathies molecular analysis splice-site variants Biology (General) Chemistry Marta Soszyńska verfasserin aut Michał Komorowski verfasserin aut Anna Podgórska verfasserin aut Natalia Krześniak verfasserin aut Aleksandra Nogowska verfasserin aut Martyna Smolińska verfasserin aut Kamil Szulborski verfasserin aut Jacek P. Szaflik verfasserin aut Bartłomiej Noszczyk verfasserin aut Monika Ołdak verfasserin aut Jacek Malejczyk verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 21(2020), 10, p 3430 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:21 year:2020 number:10, p 3430 https://doi.org/10.3390/ijms21103430 kostenfrei https://doaj.org/article/ee02d04463ff460792334754fdb4172f kostenfrei https://www.mdpi.com/1422-0067/21/10/3430 kostenfrei https://doaj.org/toc/1661-6596 Journal toc kostenfrei https://doaj.org/toc/1422-0067 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 21 2020 10, p 3430 |
spelling |
10.3390/ijms21103430 doi (DE-627)DOAJ075041510 (DE-599)DOAJee02d04463ff460792334754fdb4172f DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Aneta Ścieżyńska verfasserin aut Molecular Analysis of the <i<ABCA4</i< Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <i<ABCA4</i< gene mutations are the cause of a spectrum of <i<ABCA4</i< retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. <i<ABCA4</i< has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of <i<ABCA4</i< variants has required advanced molecular analysis techniques. The aim of the present study was to evaluate whether human hair follicles may be used for molecular analysis of the <i<ABCA4</i< gene splice-site variants in patients with <i<ABCA4</i< retinopathies. We assessed <i<ABCA4</i< expression in hair follicles and skin at mRNA and protein levels by means of real-time PCR and Western blot analyses, respectively. We performed cDNA sequencing to reveal the presence of full-length <i<ABCA4</i< transcripts and analyzed <i<ABCA4</i< transcripts from three patients with Stargardt disease carrying different splice-site <i<ABCA4</i< variants: c.5312+1G<A, c.5312+2T<G and c.5836-3C<A. cDNA analysis revealed that c.5312+1G<A, c.5312+2T<G variants led to the skipping of exon 37, and the c.5836-3C<A variant resulted in the insertion of 30 nucleotides into the transcript. Our results strongly argue for the use of hair follicles as a model for the molecular analysis of the pathogenicity of <i<ABCA4</i< variants in patients with <i<ABCA4</i< retinopathies. hair follicles <i<ABCA4</i< gene mutations Stargardt disease <i<ABCA4</i< retinopathies molecular analysis splice-site variants Biology (General) Chemistry Marta Soszyńska verfasserin aut Michał Komorowski verfasserin aut Anna Podgórska verfasserin aut Natalia Krześniak verfasserin aut Aleksandra Nogowska verfasserin aut Martyna Smolińska verfasserin aut Kamil Szulborski verfasserin aut Jacek P. Szaflik verfasserin aut Bartłomiej Noszczyk verfasserin aut Monika Ołdak verfasserin aut Jacek Malejczyk verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 21(2020), 10, p 3430 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:21 year:2020 number:10, p 3430 https://doi.org/10.3390/ijms21103430 kostenfrei https://doaj.org/article/ee02d04463ff460792334754fdb4172f kostenfrei https://www.mdpi.com/1422-0067/21/10/3430 kostenfrei https://doaj.org/toc/1661-6596 Journal toc kostenfrei https://doaj.org/toc/1422-0067 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 21 2020 10, p 3430 |
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10.3390/ijms21103430 doi (DE-627)DOAJ075041510 (DE-599)DOAJee02d04463ff460792334754fdb4172f DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Aneta Ścieżyńska verfasserin aut Molecular Analysis of the <i<ABCA4</i< Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <i<ABCA4</i< gene mutations are the cause of a spectrum of <i<ABCA4</i< retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. <i<ABCA4</i< has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of <i<ABCA4</i< variants has required advanced molecular analysis techniques. The aim of the present study was to evaluate whether human hair follicles may be used for molecular analysis of the <i<ABCA4</i< gene splice-site variants in patients with <i<ABCA4</i< retinopathies. We assessed <i<ABCA4</i< expression in hair follicles and skin at mRNA and protein levels by means of real-time PCR and Western blot analyses, respectively. We performed cDNA sequencing to reveal the presence of full-length <i<ABCA4</i< transcripts and analyzed <i<ABCA4</i< transcripts from three patients with Stargardt disease carrying different splice-site <i<ABCA4</i< variants: c.5312+1G<A, c.5312+2T<G and c.5836-3C<A. cDNA analysis revealed that c.5312+1G<A, c.5312+2T<G variants led to the skipping of exon 37, and the c.5836-3C<A variant resulted in the insertion of 30 nucleotides into the transcript. Our results strongly argue for the use of hair follicles as a model for the molecular analysis of the pathogenicity of <i<ABCA4</i< variants in patients with <i<ABCA4</i< retinopathies. hair follicles <i<ABCA4</i< gene mutations Stargardt disease <i<ABCA4</i< retinopathies molecular analysis splice-site variants Biology (General) Chemistry Marta Soszyńska verfasserin aut Michał Komorowski verfasserin aut Anna Podgórska verfasserin aut Natalia Krześniak verfasserin aut Aleksandra Nogowska verfasserin aut Martyna Smolińska verfasserin aut Kamil Szulborski verfasserin aut Jacek P. Szaflik verfasserin aut Bartłomiej Noszczyk verfasserin aut Monika Ołdak verfasserin aut Jacek Malejczyk verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 21(2020), 10, p 3430 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:21 year:2020 number:10, p 3430 https://doi.org/10.3390/ijms21103430 kostenfrei https://doaj.org/article/ee02d04463ff460792334754fdb4172f kostenfrei https://www.mdpi.com/1422-0067/21/10/3430 kostenfrei https://doaj.org/toc/1661-6596 Journal toc kostenfrei https://doaj.org/toc/1422-0067 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 21 2020 10, p 3430 |
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10.3390/ijms21103430 doi (DE-627)DOAJ075041510 (DE-599)DOAJee02d04463ff460792334754fdb4172f DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Aneta Ścieżyńska verfasserin aut Molecular Analysis of the <i<ABCA4</i< Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <i<ABCA4</i< gene mutations are the cause of a spectrum of <i<ABCA4</i< retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. <i<ABCA4</i< has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of <i<ABCA4</i< variants has required advanced molecular analysis techniques. The aim of the present study was to evaluate whether human hair follicles may be used for molecular analysis of the <i<ABCA4</i< gene splice-site variants in patients with <i<ABCA4</i< retinopathies. We assessed <i<ABCA4</i< expression in hair follicles and skin at mRNA and protein levels by means of real-time PCR and Western blot analyses, respectively. We performed cDNA sequencing to reveal the presence of full-length <i<ABCA4</i< transcripts and analyzed <i<ABCA4</i< transcripts from three patients with Stargardt disease carrying different splice-site <i<ABCA4</i< variants: c.5312+1G<A, c.5312+2T<G and c.5836-3C<A. cDNA analysis revealed that c.5312+1G<A, c.5312+2T<G variants led to the skipping of exon 37, and the c.5836-3C<A variant resulted in the insertion of 30 nucleotides into the transcript. Our results strongly argue for the use of hair follicles as a model for the molecular analysis of the pathogenicity of <i<ABCA4</i< variants in patients with <i<ABCA4</i< retinopathies. hair follicles <i<ABCA4</i< gene mutations Stargardt disease <i<ABCA4</i< retinopathies molecular analysis splice-site variants Biology (General) Chemistry Marta Soszyńska verfasserin aut Michał Komorowski verfasserin aut Anna Podgórska verfasserin aut Natalia Krześniak verfasserin aut Aleksandra Nogowska verfasserin aut Martyna Smolińska verfasserin aut Kamil Szulborski verfasserin aut Jacek P. Szaflik verfasserin aut Bartłomiej Noszczyk verfasserin aut Monika Ołdak verfasserin aut Jacek Malejczyk verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 21(2020), 10, p 3430 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:21 year:2020 number:10, p 3430 https://doi.org/10.3390/ijms21103430 kostenfrei https://doaj.org/article/ee02d04463ff460792334754fdb4172f kostenfrei https://www.mdpi.com/1422-0067/21/10/3430 kostenfrei https://doaj.org/toc/1661-6596 Journal toc kostenfrei https://doaj.org/toc/1422-0067 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 21 2020 10, p 3430 |
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Molecular Analysis of the <i<ABCA4</i< Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles |
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Molecular Analysis of the <i<ABCA4</i< Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles |
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Aneta Ścieżyńska |
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International Journal of Molecular Sciences |
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International Journal of Molecular Sciences |
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Aneta Ścieżyńska Marta Soszyńska Michał Komorowski Anna Podgórska Natalia Krześniak Aleksandra Nogowska Martyna Smolińska Kamil Szulborski Jacek P. Szaflik Bartłomiej Noszczyk Monika Ołdak Jacek Malejczyk |
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Elektronische Aufsätze |
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molecular analysis of the <i<abca4</i< gene mutations in patients with stargardt disease using human hair follicles |
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Molecular Analysis of the <i<ABCA4</i< Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles |
abstract |
<i<ABCA4</i< gene mutations are the cause of a spectrum of <i<ABCA4</i< retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. <i<ABCA4</i< has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of <i<ABCA4</i< variants has required advanced molecular analysis techniques. The aim of the present study was to evaluate whether human hair follicles may be used for molecular analysis of the <i<ABCA4</i< gene splice-site variants in patients with <i<ABCA4</i< retinopathies. We assessed <i<ABCA4</i< expression in hair follicles and skin at mRNA and protein levels by means of real-time PCR and Western blot analyses, respectively. We performed cDNA sequencing to reveal the presence of full-length <i<ABCA4</i< transcripts and analyzed <i<ABCA4</i< transcripts from three patients with Stargardt disease carrying different splice-site <i<ABCA4</i< variants: c.5312+1G<A, c.5312+2T<G and c.5836-3C<A. cDNA analysis revealed that c.5312+1G<A, c.5312+2T<G variants led to the skipping of exon 37, and the c.5836-3C<A variant resulted in the insertion of 30 nucleotides into the transcript. Our results strongly argue for the use of hair follicles as a model for the molecular analysis of the pathogenicity of <i<ABCA4</i< variants in patients with <i<ABCA4</i< retinopathies. |
abstractGer |
<i<ABCA4</i< gene mutations are the cause of a spectrum of <i<ABCA4</i< retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. <i<ABCA4</i< has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of <i<ABCA4</i< variants has required advanced molecular analysis techniques. The aim of the present study was to evaluate whether human hair follicles may be used for molecular analysis of the <i<ABCA4</i< gene splice-site variants in patients with <i<ABCA4</i< retinopathies. We assessed <i<ABCA4</i< expression in hair follicles and skin at mRNA and protein levels by means of real-time PCR and Western blot analyses, respectively. We performed cDNA sequencing to reveal the presence of full-length <i<ABCA4</i< transcripts and analyzed <i<ABCA4</i< transcripts from three patients with Stargardt disease carrying different splice-site <i<ABCA4</i< variants: c.5312+1G<A, c.5312+2T<G and c.5836-3C<A. cDNA analysis revealed that c.5312+1G<A, c.5312+2T<G variants led to the skipping of exon 37, and the c.5836-3C<A variant resulted in the insertion of 30 nucleotides into the transcript. Our results strongly argue for the use of hair follicles as a model for the molecular analysis of the pathogenicity of <i<ABCA4</i< variants in patients with <i<ABCA4</i< retinopathies. |
abstract_unstemmed |
<i<ABCA4</i< gene mutations are the cause of a spectrum of <i<ABCA4</i< retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. <i<ABCA4</i< has previously been observed almost exclusively in the retina. Therefore, studying the functional consequences of <i<ABCA4</i< variants has required advanced molecular analysis techniques. The aim of the present study was to evaluate whether human hair follicles may be used for molecular analysis of the <i<ABCA4</i< gene splice-site variants in patients with <i<ABCA4</i< retinopathies. We assessed <i<ABCA4</i< expression in hair follicles and skin at mRNA and protein levels by means of real-time PCR and Western blot analyses, respectively. We performed cDNA sequencing to reveal the presence of full-length <i<ABCA4</i< transcripts and analyzed <i<ABCA4</i< transcripts from three patients with Stargardt disease carrying different splice-site <i<ABCA4</i< variants: c.5312+1G<A, c.5312+2T<G and c.5836-3C<A. cDNA analysis revealed that c.5312+1G<A, c.5312+2T<G variants led to the skipping of exon 37, and the c.5836-3C<A variant resulted in the insertion of 30 nucleotides into the transcript. Our results strongly argue for the use of hair follicles as a model for the molecular analysis of the pathogenicity of <i<ABCA4</i< variants in patients with <i<ABCA4</i< retinopathies. |
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Molecular Analysis of the <i<ABCA4</i< Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles |
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Marta Soszyńska Michał Komorowski Anna Podgórska Natalia Krześniak Aleksandra Nogowska Martyna Smolińska Kamil Szulborski Jacek P. Szaflik Bartłomiej Noszczyk Monika Ołdak Jacek Malejczyk |
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