Expanded HOXA13 polyalanine tracts in a monotreme
نویسندگان
چکیده
منابع مشابه
Expanded HOXA13 polyalanine tracts in a monotreme.
The N-terminal region of human HOXA13 has seven discrete polyalanine tracts. Our previous analysis of these tracts in multiple major vertebrate clades suggested that three are mammal-specific. We now report the N-terminal HOXA13 repetitive tract structures in the monotreme Tachyglossus aculeatus (echidna). Contrary to our expectations, echidna HOXA13 possesses a unique set of polyalanine tracts...
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Polyalanine expansions in two of three large imperfect trinucleotide repeats encoded by the first exon of HOXA13 have been reported in hand-foot-genital syndrome (HFGS). Here we report additional families with expansions in the third repeat of 11 and 12 alanine residues, the latter being the largest expansion reported. We also report a patient with a novel, de novo 8-alanine expansion in the fi...
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Polyalanine repeat expansion diseases are hypothesized to result from unequal chromosomal recombination, yet mechanistic studies are lacking. We identified two de novo cases of hand-foot-genital syndrome (HFGS) associated with polyalanine expansions in HOXA13 that afforded rare opportunities to investigate the mechanism. The first patient with HFGS was heterozygous for a de novo nine codon poly...
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Polyglutamine (polyQ) tracts have been studied extensively for their roles in a number of human diseases such as Huntington’s or different Ataxias. However, it has also been recognized that polyQ tracts are abundant and may have important functional and evolutionary roles. Especially the association of polyQ and also polyalanine (polyA) tracts with transcription factors and their activation act...
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ژورنال
عنوان ژورنال: Evolution & Development
سال: 2008
ISSN: 1520-541X,1525-142X
DOI: 10.1111/j.1525-142x.2008.00254.x