The hairless gene of the mouse: Relationship of phenotypic effects with expression profile and genotype
The hairless gene of the mouse: Relationship of phenotypic effects with expression profile and genotype
复制标题
小鼠无毛基因：表型效应与表达谱和基因型的关系
作者：
M. Begoña Cachón‐González;Isabel San‐José;A. Cano;José Antonio Vega;Natividad García;T. Freeman;T. Schimmang;J. Stoye
小鼠无毛（hr）基因的各种突变导致毛发脱落和其他皮肤缺陷。为了研究hr基因在小鼠发育中的作用，通过原位杂交确定了hr的表达谱，并将其与不同突变动物的遗传变化和形态异常的性质相关联。四个变异等位基因已在分子水平上进行了表征。hr/hr小鼠产生降低但显著水平的hr mRNA，而其它等位基因含有预期会妨碍功能产物合成的突变，这证明hr基因座的等位基因变异与表型严重性之间的相关性。HR表达被证明是广泛的和时间调节的。在软骨、发育中的牙齿、内耳、视网膜、结肠以及皮肤和大脑等新组织中发现了这种蛋白。对无毛犀牛等位基因纯合子小鼠的分析显示，尽管在许多正常表达hr的组织中没有检测到形态学缺陷，但在包括内耳、视网膜和结肠在内的几种组织中存在先前未描述的异常。这些发现表明，无毛基因产物在发育中发挥的作用比以前怀疑的更广泛。Dev Dyn 1999;216：113-126。© 1999 Wiley利斯公司
Various mutations of the hairless (hr) gene of mice result in hair loss and other integument defects. To examine the role of the hr gene in mouse development, the expression profile of hr has been determined by in situ hybridisation and correlated to the nature of genetic changes and morphological abnormalities in different mutant animals. Four variant alleles have been characterised at the molecular level. hr/hr mice produce reduced, but significant, levels of hr mRNA whereas other alleles contain mutations which would be expected to preclude the synthesis of functional product, demonstrating a correlation between allelic variation at the hr locus and phenotypic severity. hr expression was shown to be widespread and temporally regulated. It was identified in novel tissues such as cartilage, developing tooth, inner ear, retina, and colon as well as in skin and brain. Analysis of mice homozygous for the rhino allele of hairless revealed that, although no morphological defects were detectable in many tissues normally expressing hr, previously undescribed abnormalities were present in several tissues including inner ear, retina, and colon. These findings indicate that the hairless gene product plays a wider role in development than previously suspected. Dev Dyn 1999;216:113–126. © 1999 Wiley‐Liss, Inc.
过度表达鸟氨酸脱羧酶的转基因小鼠自发性皮肤肿瘤的发生率增加。
DOI：
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发表时间：
1995
期刊：
Cancer research.
影响因子：
--
作者：
Megosh,L;Gilmour,SK;Rosson,D;Soler,AP;Blessing,M;Sawicki,JA;O'Brien,TG
通讯作者：
O'Brien,TG
影响因子：
56.9
作者：
Ahmad, W;Haque, WFU;Christiano, AM
通讯作者：
Christiano, AM
多效性突变导致小鼠免疫系统和皮肤异常。
DOI：
10.1159/000413486
发表时间：
1987
期刊：
Current problems in dermatology
影响因子：
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作者：
Shultz,LD
通讯作者：
Shultz,LD