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.
In: Animal Genetics, Vol. 42, No. 6, 2011, p. 578-584.Research output: Contribution to journal › Journal article › Research › peer-review
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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
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