首页> 美国卫生研究院文献>Comparative Medicine >Allelic Diversity in the Serum Amyloid A2 Gene and Amyloid A Amyloidosis in a Breeding Colony of Zebra Finches (Taeniopygia guttata)
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Allelic Diversity in the Serum Amyloid A2 Gene and Amyloid A Amyloidosis in a Breeding Colony of Zebra Finches (Taeniopygia guttata)

机译:斑马雀(Taeniopygia guttata)繁殖群体中血清淀粉样蛋白A2基因的等位基因多样性和淀粉样蛋白A淀粉样变性

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摘要

A high incidence of amyloid A (AA) amyloidosis was observed in the research breeding colony of zebra finches at our institution. Some birds with hepatic AA amyloidosis were asymptomatic for comorbid conditions frequently associated with the development of AA amyloidosis, whereas other birds with comorbid conditions failed to develop AA amyloidosis, suggesting a potential genetic component to the disease. Sequencing the gene from 20 birds yielded 18 distinct sequences that coded for 5 isoforms of the protein. Most of the amino acid substitutions are unlikely to affect the protein's structure or function, but 2 changes—R52L and V84M—were predicted to be disruptive. In particular, R52 is highly conserved across vertebrates, with only arginine or lysine found at this position in reported sequences to date. The atypical R52L substitution occurred in 2 otherwise healthy birds with hepatic AA amyloidosis, supporting the idea that this change is pathogenic.
机译:在我们机构的斑马雀的研究繁殖群体中,淀粉样蛋白A(AA)淀粉样变性病的发生率很高。一些患有AA淀粉样变性的鸡没有症状,但常常与AA淀粉样变性的发展有关,而其他患有合并病的鸟则没有AA淀粉样变性,这表明该病可能是遗传的。对来自20只禽类的基因进行测序后,产生了18个不同的序列,编码该蛋白的5个同工型。大多数氨基酸取代不太可能影响蛋白质的结构或功能,但据预测有两个变化(R52L和V84M)具有破坏性。特别是,R52在整个脊椎动物中高度保守,迄今在报道的序列中仅在该位置发现了精氨酸或赖氨酸。非典型R52L替代发生在2例原本为健康的肝脏AA淀粉样变性病的禽类中,支持这一变化是致病性的观点。

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