The mouse hairy ears mutation exhibits an extended growth (anagen) phase in hair follicles and altered Hoxc gene expression in the ears
The mouse hairy ears mutation exhibits an extended growth (anagen) phase in hair follicles and altered Hoxc gene expression in the ears
复制标题
小鼠毛耳突变表现出毛囊生长期（生长期）延长和耳朵中 Hoxc 基因表达的改变
DOI：
10.1111/j.1365-3164.2008.00709.x
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发表时间：
2008-12-01
影响因子：
1.4
通讯作者：
You, Yun
中科院分区：
文献类型：
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作者：
Mentzer, Sarah E.;Sundberg, John P.;You, Yun
小鼠In(15)2Rl（毛茸茸的耳朵，Eh）突变是15号染色体远端一半（Chr 15）的准中心反转。杂合子Eh/+小鼠表现出畸形和多毛的耳朵，比它们的野生型同伴的耳朵有更多更长的毛发。我们对两个反转断点进行了映射、克隆和测序。任何一个断点都没有破坏蛋白质编码转录本。近端断点位于syntrophin碱性1 （Sntb1）和透明质酸合成酶2 （Has2）之间，远端断点位于同源盒C4 （Hoxc4）和单链选择性单功能尿嘧啶DNA糖基酶（Smug1）之间，分别靠近Chr 15的中间和端粒端。反转跨越47兆基。我们的遗传分析表明，毛耳表型是由倒位基因Chr 15的近端断点引起的。通过实时聚合酶链反应对断点两侧基因进行定量RNA分析，除了一些同源盒C （Hoxc）基因的表达水平在发育和成熟的耳朵皮肤中升高，而在其他身体部位则没有变化外，其他基因的表达水平没有变化。组织学分析表明，Eh/+小鼠耳毛长度的增加是由于毛发周期中毛发生长阶段的延长。我们的数据表明Eh表型是由Hoxc基因的错误表达引起的。
The mouse In(15)2Rl (hairy ears, Eh) mutation is a paracentric inversion of the distal half of chromosome 15 (Chr 15). Heterozygous Eh/+ mice display misshaped and hairy ears that have more and longer hair than the ears of their wild-type littermates. We mapped, cloned and sequenced both inversion breakpoints. No protein-coding transcript was disrupted by either breakpoint. The proximal breakpoint is located between syntrophin basic 1 (Sntb1) and hyaluronan synthase 2 (Has2), and the distal breakpoint maps between homeobox C4 (Hoxc4) and single-strand selective monofunctional uracil DNA glycosylase (Smug1), near the middle and the telomere ends of Chr 15, respectively. The inversion spans 47 megabases. Our genetic analysis suggests that the hairy-ear phenotype is caused by the proximal breakpoint of the inversion-bearing Chr 15. Quantitative RNA analysis by real-time polymerase chain reaction for the genes flanking the breakpoint indicated no changes in expression levels except for some homeobox C (Hoxc) genes whose expression was elevated in developing and mature skin of the ears but not of other body regions. The increased hair length on the ears of Eh/+ mice was due to an extension of the anagen stage in the hair cycle, as determined by histological analysis. Our data indicate that the Eh phenotype arises from mis-expression of Hoxc genes.