Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle

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Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle. / Karlskov-Mortensen, Peter; Cirera Salicio, Susanna; Nielsen, Ole Lerberg; Arnbjerg, Jens; Reibel, Jesper; Fredholm, Merete; Agerholm, Jørgen Steen.

I: Animal Genetics, Bind 42, Nr. 6, 2011, s. 578-584.

Publikation: Bidrag til tidsskriftTidsskriftartikelfagfællebedømt

Harvard

Karlskov-Mortensen, P, Cirera Salicio, S, Nielsen, OL, Arnbjerg, J, Reibel, J, Fredholm, M & Agerholm, JS 2011, 'Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle', Animal Genetics, bind 42, nr. 6, s. 578-584. https://doi.org/10.1111/j.1365-2052.2011.02192.x

APA

Karlskov-Mortensen, P., Cirera Salicio, S., Nielsen, O. L., Arnbjerg, J., Reibel, J., Fredholm, M., & Agerholm, J. S. (2011). Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle. Animal Genetics, 42(6), 578-584. https://doi.org/10.1111/j.1365-2052.2011.02192.x

Vancouver

Karlskov-Mortensen P, Cirera Salicio S, Nielsen OL, Arnbjerg J, Reibel J, Fredholm M o.a. Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle. Animal Genetics. 2011;42(6):578-584. https://doi.org/10.1111/j.1365-2052.2011.02192.x

Author

Karlskov-Mortensen, Peter ; Cirera Salicio, Susanna ; Nielsen, Ole Lerberg ; Arnbjerg, Jens ; Reibel, Jesper ; Fredholm, Merete ; Agerholm, Jørgen Steen. / Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle. I: Animal Genetics. 2011 ; Bind 42, Nr. 6. s. 578-584.

Bibtex

@article{91958ccc571f402d9051e4bb93251378,
title = "Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle",
abstract = "A case of X-linked hypohidrotic ectodermal dysplasia (XHED) was identified in a family of Danish Red Holstein cattle. The ectodysplasin-signalling protein (EDA) is known to be central in the normal development of ectodermal structures, and mutations in the ectodysplasin A (EDA) gene have been reported to cause XHED. In this study, we analysed different EDA transcript variants in affected and unaffected cattle and identified a new transcript variant including a LINE1-derived pseudoexon between EDA exons 1 and 2. The 161-bp-long pseudoexon introduces a shift in reaing frame and a premature stop codon early in EDA exon 2 and is probably the cause of XHED in this Danish Red Holstein family.",
keywords = "Former LIFE faculty, Bos taurus, etodysplasin A, LINE1, X-linked hypohidrotic ectodermal dysplasia",
author = "Peter Karlskov-Mortensen and {Cirera Salicio}, Susanna and Nielsen, {Ole Lerberg} and Jens Arnbjerg and Jesper Reibel and Merete Fredholm and Agerholm, {J{\o}rgen Steen}",
year = "2011",
doi = "10.1111/j.1365-2052.2011.02192.x",
language = "English",
volume = "42",
pages = "578--584",
journal = "Animal Genetics",
issn = "0268-9146",
publisher = "Wiley-Blackwell",
number = "6",

}

RIS

TY - JOUR

T1 - Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle

AU - Karlskov-Mortensen, Peter

AU - Cirera Salicio, Susanna

AU - Nielsen, Ole Lerberg

AU - Arnbjerg, Jens

AU - Reibel, Jesper

AU - Fredholm, Merete

AU - Agerholm, Jørgen Steen

PY - 2011

Y1 - 2011

N2 - A case of X-linked hypohidrotic ectodermal dysplasia (XHED) was identified in a family of Danish Red Holstein cattle. The ectodysplasin-signalling protein (EDA) is known to be central in the normal development of ectodermal structures, and mutations in the ectodysplasin A (EDA) gene have been reported to cause XHED. In this study, we analysed different EDA transcript variants in affected and unaffected cattle and identified a new transcript variant including a LINE1-derived pseudoexon between EDA exons 1 and 2. The 161-bp-long pseudoexon introduces a shift in reaing frame and a premature stop codon early in EDA exon 2 and is probably the cause of XHED in this Danish Red Holstein family.

AB - A case of X-linked hypohidrotic ectodermal dysplasia (XHED) was identified in a family of Danish Red Holstein cattle. The ectodysplasin-signalling protein (EDA) is known to be central in the normal development of ectodermal structures, and mutations in the ectodysplasin A (EDA) gene have been reported to cause XHED. In this study, we analysed different EDA transcript variants in affected and unaffected cattle and identified a new transcript variant including a LINE1-derived pseudoexon between EDA exons 1 and 2. The 161-bp-long pseudoexon introduces a shift in reaing frame and a premature stop codon early in EDA exon 2 and is probably the cause of XHED in this Danish Red Holstein family.

KW - Former LIFE faculty

KW - Bos taurus

KW - etodysplasin A

KW - LINE1

KW - X-linked hypohidrotic ectodermal dysplasia

U2 - 10.1111/j.1365-2052.2011.02192.x

DO - 10.1111/j.1365-2052.2011.02192.x

M3 - Journal article

C2 - 22034998

VL - 42

SP - 578

EP - 584

JO - Animal Genetics

JF - Animal Genetics

SN - 0268-9146

IS - 6

ER -

ID: 33347484