Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene
Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene
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DOI：
10.1007/s00335-021-09926-9
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发表时间：
2022-01
期刊：
影响因子：
2.5
通讯作者：
M. Mori;Chang Liu;T. Yoshizawa;Hiroki Miyahara;Jian Dai;Yuichi Igarashi;Xiaoran Cui;Ying Li;X. Kang;K. Higuchi
中科院分区：
文献类型：
--
作者：
M. Mori;Chang Liu;T. Yoshizawa;Hiroki Miyahara;Jian Dai;Yuichi Igarashi;Xiaoran Cui;Ying Li;X. Kang;K. Higuchi
中野白内障小鼠（NCT）的第一根毛发表现出波浪状的皮毛，这是一种遗传特征。在这项研究中，我们探讨了波浪形外套的分子遗传基础。我们发现，通过杂交实验，波浪形外套是由一个主基因控制的NCT的7号染色体上，纯合性是一个先决条件的发展波浪形外套，并通过9号染色体上的基因与一个较小的影响，以加强表现的性状。在人类中，已知同源染色体上的蛋白酶丝氨酸53（PRSS 53）基因的多态性与卷曲的头皮毛发相关。然后我们研究了Prss 53基因，发现NCT在该基因的第一个内含子中插入了一个脑池内A颗粒元件。然而，在NCT皮肤中，Prss 53的表达在转录物和蛋白质水平上都没有改变。随后，我们创建了C57 BL/6 J-Prss 53 em 1基因敲除小鼠，发现这些小鼠表现出模糊的波浪状皮毛。部分C57 BL/6 J-Prss 53 em 1与NCT回交和互交小鼠的皮毛呈强烈或模糊的波浪状。这些发现证明了NCT和Prss 53基因敲除小鼠波浪状毛发的多基因性质，并强调了与PRSS 53改变相关的人类卷曲毛发性状的相似性。
The Nakano cataract mouse (NCT) manifests a wavy coat for their first hair as a genetic trait. In this study, we explored the molecular genetic basis of the wavy coat. We revealed by crossing experiments that the wavy coat is controlled by a major gene on chromosome 7 of NCT, homozygosity of which is a prerequisite for developing the wavy coat, and by a gene on chromosome 9 with a minor effect to reinforce the manifestation of the trait. In humans, a polymorphism of the protease, serine 53 (PRSS53) gene on the homologous chromosome is known to be associated with curly scalp hair. We then investigated thePrss53gene and discovered that NCT has an insertion of an intracisternal A particle element in the first intron of the gene. Nevertheless, the expression of thePrss53is not altered in the NCT skin both in transcript and protein levels. Subsequently, we created C57BL/6J-Prss53em1knockout mice and found that these mice manifest vague wavy coats. A portion of backcross and intercross mice between the C57BL/6J-Prss53em1and NCT manifested intense or vague wavy coats. These findings demonstrate the polygenic nature of the wavy coat of NCT andPrss53knockout mice and highlight the similarity of the trait to the curly hair of humans associated with thePRSS53alteration.