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

Peter Karlskov-Mortensen; Susanna Cirera Salicio; Ole Lerberg Nielsen; Jens Arnbjerg; Jesper Reibel; Merete Fredholm; Jørgen Steen Agerholm

doi:10.1111/j.1365-2052.2011.02192.x

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

Peter Karlskov-Mortensen, Susanna Cirera Salicio, Ole Lerberg Nielsen, Jens Arnbjerg, Jesper Reibel, Merete Fredholm, Jørgen Steen Agerholm

Section 02 - Paediatric Dentistry

8 Citations (Scopus)

Abstract

Summary 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 reading frame and a premature stop codon early in EDA exon 2 and is probably the cause of XHED in this Danish Red Holstein family.

Original language	English
Journal	Animal Genetics
Volume	42
Issue number	6
Pages (from-to)	578-584
Number of pages	7
ISSN	0268-9146
DOIs	https://doi.org/10.1111/j.1365-2052.2011.02192.x
Publication status	Published - Dec 2011

Keywords

Former LIFE faculty

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10.1111/j.1365-2052.2011.02192.x

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title = "Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle",

abstract = "Summary 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 reading 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",

month = dec,

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",

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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 - 2011/12

Y1 - 2011/12

N2 - Summary 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 reading 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 - Summary 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 reading 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

SN - 0268-9146

VL - 42

SP - 578

EP - 584

JO - Animal Genetics

JF - Animal Genetics

IS - 6

ER -

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

Abstract

Keywords

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