title: Polymorphism of CAG repeats in androgen receptor of carnivores.
abstract: Androgen effect is mediated by the androgen receptor (AR). The polymorphism of CAG triplet repeat (polyCAG), in the N-terminal transactivation domain of the AR protein, has been involved either in endocrine or neurological disorders in human. We obtained partial sequence of AR exon 1 in 10 carnivore species. In most carnivore species, polyglutamine length polymorphism presented in all three CAG repeat regions of AR, in contrast, only CAG-I site polymorphism presented in primate species, and CAG-I and CAG-III sites polymorphism presented in Canidae. Therefore, studies focusing on disease-associated polymorphism of poly(CAG) in carnivore species AR should investigate all three CAG repeats sites, and should not only consider CAG-I sites as the human disease studies. The trinucleotide repeat length in carnivore AR exon 1 had undergone from expansions to contractions during carnivores evolution, unlike a linear increase in primate species. Furthermore, the polymorphisms of the triplet-repeats in the same tissue (somatic mosaicism) were demonstrated in Moutain weasel, Eurasian lynx, Clouded leopard, Chinese tiger, Black leopard and Leopard AR. And, the abnormal stop codon was found in the exon 1 of three carnivore species AR (Moutain weasel, Eurasian lynx and Black leopard). It seemed to have a high frequency presence of tissue-specific somatic in carnivores AR genes. Thus the in vivo mechanism leading to such highly variable phenotypes of the described mutations, and their impact on these animals, are worthwhile to be further elucidated.
authors.affiliation: Sichuan Key Laboratory of Conservation Biology on Endangered Wildlife, College of Life Sciences, Sichuan University, Chengdu 610064, People's Republic of China.
authors.forename: Qin
authors.initials: Q
authors.lastname: Wang
authors.forename: Xiuyue
authors.initials: X
authors.lastname: Zhang
authors.forename: Xiaofang
authors.initials: X
authors.lastname: Wang
authors.forename: Bo
authors.initials: B
authors.lastname: Zeng
authors.forename: Xiaodong
authors.initials: X
authors.lastname: Jia
authors.forename: Rong
authors.initials: R
authors.lastname: Hou
authors.forename: Bisong
authors.initials: B
authors.lastname: Yue
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002335:Carnivora / Q000235:genetics*; D018388:Codon, Terminator / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D019143:Evolution, Molecular; D006801:Humans; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic / Q000235:genetics*; D011944:Receptors, Androgen / Q000235:genetics*; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D013045:Species Specificity; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: D018388:Codon, Terminator; D017931:DNA Primers; D011944:Receptors, Androgen