A polynucleotide repeat expansion causing temperature-sensitivity persists in wild Irish accessions of Arabidopsis thaliana

Triplet repeat expansions underlie several human genetic diseases such as Huntington’s disease and Friedreich’s ataxia. Although such mutations are primarily known from humans, a triplet expansion associated genetic defect has also been reported at the IIL1 locus in the Bur-0 accession of the model...
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Gespeichert in:

Autor*in:	Amanda Tabib [verfasserIn] Sailaja Vishwanathan [verfasserIn] Andrei Seleznev [verfasserIn] Peter McKeown [verfasserIn] Tim Downing [verfasserIn] Craig Dent [verfasserIn] Eduardo Sanchez-Bermejo [verfasserIn] Luana Colling [verfasserIn] Charles Spillane [verfasserIn] Sureshkumar Balasubramanian [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2016

Schlagwörter:	Arabidopsis thaliana natural variation QTL analysis ambient temperature Cryptic genetic variation Genetic modifiers

Übergeordnetes Werk:	In: Frontiers in Plant Science - Frontiers Media S.A., 2011, 7(2016)
Übergeordnetes Werk:	volume:7 ; year:2016

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.3389/fpls.2016.01311

Katalog-ID:	DOAJ011608811

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520			\|a Triplet repeat expansions underlie several human genetic diseases such as Huntington’s disease and Friedreich’s ataxia. Although such mutations are primarily known from humans, a triplet expansion associated genetic defect has also been reported at the IIL1 locus in the Bur-0 accession of the model plant Arabidopsis thaliana. The IIL1 triplet expansion is an example of cryptic genetic variation as its phenotypic effects are seen only under genetic or environmental perturbation, with high temperatures resulting in a growth defect. Here we demonstrate that the IIL1 triplet expansion associated growth defect is not a general stress response and is specific to particular environmental perturbations. We also confirm and map genetic modifiers that suppress the effect of IIL1 triplet repeat expansion. By collecting and analysing accessions from the island of Ireland, we recover the repeat expansion in wild populations suggesting that the repeat expansion has persisted at least 60 years in Ireland. Through genome-wide genotyping, we show that the repeat expansion is present in diverse Irish populations. Our findings indicate that even deleterious alleles can persist in populations if their effect is conditional. Our study demonstrates that analysis of groups of wild populations is a powerful tool for understanding the dynamics of cryptic genetic variation.
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spelling	10.3389/fpls.2016.01311 doi (DE-627)DOAJ011608811 (DE-599)DOAJ4db1fc70c22a4a3d9521abd7d8093b36 DE-627 ger DE-627 rakwb eng SB1-1110 Amanda Tabib verfasserin aut A polynucleotide repeat expansion causing temperature-sensitivity persists in wild Irish accessions of Arabidopsis thaliana 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Triplet repeat expansions underlie several human genetic diseases such as Huntington’s disease and Friedreich’s ataxia. Although such mutations are primarily known from humans, a triplet expansion associated genetic defect has also been reported at the IIL1 locus in the Bur-0 accession of the model plant Arabidopsis thaliana. The IIL1 triplet expansion is an example of cryptic genetic variation as its phenotypic effects are seen only under genetic or environmental perturbation, with high temperatures resulting in a growth defect. Here we demonstrate that the IIL1 triplet expansion associated growth defect is not a general stress response and is specific to particular environmental perturbations. We also confirm and map genetic modifiers that suppress the effect of IIL1 triplet repeat expansion. By collecting and analysing accessions from the island of Ireland, we recover the repeat expansion in wild populations suggesting that the repeat expansion has persisted at least 60 years in Ireland. Through genome-wide genotyping, we show that the repeat expansion is present in diverse Irish populations. Our findings indicate that even deleterious alleles can persist in populations if their effect is conditional. Our study demonstrates that analysis of groups of wild populations is a powerful tool for understanding the dynamics of cryptic genetic variation. Arabidopsis thaliana natural variation QTL analysis ambient temperature Cryptic genetic variation Genetic modifiers Plant culture Sailaja Vishwanathan verfasserin aut Andrei Seleznev verfasserin aut Peter McKeown verfasserin aut Tim Downing verfasserin aut Tim Downing verfasserin aut Craig Dent verfasserin aut Eduardo Sanchez-Bermejo verfasserin aut Luana Colling verfasserin aut Charles Spillane verfasserin aut Sureshkumar Balasubramanian verfasserin aut In Frontiers in Plant Science Frontiers Media S.A., 2011 7(2016) (DE-627)662359240 (DE-600)2613694-6 1664462X nnns volume:7 year:2016 https://doi.org/10.3389/fpls.2016.01311 kostenfrei https://doaj.org/article/4db1fc70c22a4a3d9521abd7d8093b36 kostenfrei http://journal.frontiersin.org/Journal/10.3389/fpls.2016.01311/full kostenfrei https://doaj.org/toc/1664-462X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 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_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 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 7 2016
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allfieldsSound	10.3389/fpls.2016.01311 doi (DE-627)DOAJ011608811 (DE-599)DOAJ4db1fc70c22a4a3d9521abd7d8093b36 DE-627 ger DE-627 rakwb eng SB1-1110 Amanda Tabib verfasserin aut A polynucleotide repeat expansion causing temperature-sensitivity persists in wild Irish accessions of Arabidopsis thaliana 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Triplet repeat expansions underlie several human genetic diseases such as Huntington’s disease and Friedreich’s ataxia. Although such mutations are primarily known from humans, a triplet expansion associated genetic defect has also been reported at the IIL1 locus in the Bur-0 accession of the model plant Arabidopsis thaliana. The IIL1 triplet expansion is an example of cryptic genetic variation as its phenotypic effects are seen only under genetic or environmental perturbation, with high temperatures resulting in a growth defect. Here we demonstrate that the IIL1 triplet expansion associated growth defect is not a general stress response and is specific to particular environmental perturbations. We also confirm and map genetic modifiers that suppress the effect of IIL1 triplet repeat expansion. By collecting and analysing accessions from the island of Ireland, we recover the repeat expansion in wild populations suggesting that the repeat expansion has persisted at least 60 years in Ireland. Through genome-wide genotyping, we show that the repeat expansion is present in diverse Irish populations. Our findings indicate that even deleterious alleles can persist in populations if their effect is conditional. Our study demonstrates that analysis of groups of wild populations is a powerful tool for understanding the dynamics of cryptic genetic variation. Arabidopsis thaliana natural variation QTL analysis ambient temperature Cryptic genetic variation Genetic modifiers Plant culture Sailaja Vishwanathan verfasserin aut Andrei Seleznev verfasserin aut Peter McKeown verfasserin aut Tim Downing verfasserin aut Tim Downing verfasserin aut Craig Dent verfasserin aut Eduardo Sanchez-Bermejo verfasserin aut Luana Colling verfasserin aut Charles Spillane verfasserin aut Sureshkumar Balasubramanian verfasserin aut In Frontiers in Plant Science Frontiers Media S.A., 2011 7(2016) (DE-627)662359240 (DE-600)2613694-6 1664462X nnns volume:7 year:2016 https://doi.org/10.3389/fpls.2016.01311 kostenfrei https://doaj.org/article/4db1fc70c22a4a3d9521abd7d8093b36 kostenfrei http://journal.frontiersin.org/Journal/10.3389/fpls.2016.01311/full kostenfrei https://doaj.org/toc/1664-462X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 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_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 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 7 2016
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callnumber-first	S - Agriculture
author	Amanda Tabib
spellingShingle	Amanda Tabib misc SB1-1110 misc Arabidopsis thaliana misc natural variation misc QTL analysis misc ambient temperature misc Cryptic genetic variation misc Genetic modifiers misc Plant culture A polynucleotide repeat expansion causing temperature-sensitivity persists in wild Irish accessions of Arabidopsis thaliana
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topic_title	SB1-1110 A polynucleotide repeat expansion causing temperature-sensitivity persists in wild Irish accessions of Arabidopsis thaliana Arabidopsis thaliana natural variation QTL analysis ambient temperature Cryptic genetic variation Genetic modifiers
topic	misc SB1-1110 misc Arabidopsis thaliana misc natural variation misc QTL analysis misc ambient temperature misc Cryptic genetic variation misc Genetic modifiers misc Plant culture
topic_unstemmed	misc SB1-1110 misc Arabidopsis thaliana misc natural variation misc QTL analysis misc ambient temperature misc Cryptic genetic variation misc Genetic modifiers misc Plant culture
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title	A polynucleotide repeat expansion causing temperature-sensitivity persists in wild Irish accessions of Arabidopsis thaliana
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title_full	A polynucleotide repeat expansion causing temperature-sensitivity persists in wild Irish accessions of Arabidopsis thaliana
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title_sort	polynucleotide repeat expansion causing temperature-sensitivity persists in wild irish accessions of arabidopsis thaliana
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title_auth	A polynucleotide repeat expansion causing temperature-sensitivity persists in wild Irish accessions of Arabidopsis thaliana
abstract	Triplet repeat expansions underlie several human genetic diseases such as Huntington’s disease and Friedreich’s ataxia. Although such mutations are primarily known from humans, a triplet expansion associated genetic defect has also been reported at the IIL1 locus in the Bur-0 accession of the model plant Arabidopsis thaliana. The IIL1 triplet expansion is an example of cryptic genetic variation as its phenotypic effects are seen only under genetic or environmental perturbation, with high temperatures resulting in a growth defect. Here we demonstrate that the IIL1 triplet expansion associated growth defect is not a general stress response and is specific to particular environmental perturbations. We also confirm and map genetic modifiers that suppress the effect of IIL1 triplet repeat expansion. By collecting and analysing accessions from the island of Ireland, we recover the repeat expansion in wild populations suggesting that the repeat expansion has persisted at least 60 years in Ireland. Through genome-wide genotyping, we show that the repeat expansion is present in diverse Irish populations. Our findings indicate that even deleterious alleles can persist in populations if their effect is conditional. Our study demonstrates that analysis of groups of wild populations is a powerful tool for understanding the dynamics of cryptic genetic variation.
abstractGer	Triplet repeat expansions underlie several human genetic diseases such as Huntington’s disease and Friedreich’s ataxia. Although such mutations are primarily known from humans, a triplet expansion associated genetic defect has also been reported at the IIL1 locus in the Bur-0 accession of the model plant Arabidopsis thaliana. The IIL1 triplet expansion is an example of cryptic genetic variation as its phenotypic effects are seen only under genetic or environmental perturbation, with high temperatures resulting in a growth defect. Here we demonstrate that the IIL1 triplet expansion associated growth defect is not a general stress response and is specific to particular environmental perturbations. We also confirm and map genetic modifiers that suppress the effect of IIL1 triplet repeat expansion. By collecting and analysing accessions from the island of Ireland, we recover the repeat expansion in wild populations suggesting that the repeat expansion has persisted at least 60 years in Ireland. Through genome-wide genotyping, we show that the repeat expansion is present in diverse Irish populations. Our findings indicate that even deleterious alleles can persist in populations if their effect is conditional. Our study demonstrates that analysis of groups of wild populations is a powerful tool for understanding the dynamics of cryptic genetic variation.
abstract_unstemmed	Triplet repeat expansions underlie several human genetic diseases such as Huntington’s disease and Friedreich’s ataxia. Although such mutations are primarily known from humans, a triplet expansion associated genetic defect has also been reported at the IIL1 locus in the Bur-0 accession of the model plant Arabidopsis thaliana. The IIL1 triplet expansion is an example of cryptic genetic variation as its phenotypic effects are seen only under genetic or environmental perturbation, with high temperatures resulting in a growth defect. Here we demonstrate that the IIL1 triplet expansion associated growth defect is not a general stress response and is specific to particular environmental perturbations. We also confirm and map genetic modifiers that suppress the effect of IIL1 triplet repeat expansion. By collecting and analysing accessions from the island of Ireland, we recover the repeat expansion in wild populations suggesting that the repeat expansion has persisted at least 60 years in Ireland. Through genome-wide genotyping, we show that the repeat expansion is present in diverse Irish populations. Our findings indicate that even deleterious alleles can persist in populations if their effect is conditional. Our study demonstrates that analysis of groups of wild populations is a powerful tool for understanding the dynamics of cryptic genetic variation.
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title_short	A polynucleotide repeat expansion causing temperature-sensitivity persists in wild Irish accessions of Arabidopsis thaliana
url	https://doi.org/10.3389/fpls.2016.01311 https://doaj.org/article/4db1fc70c22a4a3d9521abd7d8093b36 http://journal.frontiersin.org/Journal/10.3389/fpls.2016.01311/full https://doaj.org/toc/1664-462X
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A polynucleotide repeat expansion causing temperature-sensitivity persists in wild Irish accessions of Arabidopsis thaliana

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