Alopecia universalis associated with a mutation in the human hairless gene
Alopecia universalis associated with a mutation in the human hairless gene
复制标题
DOI：
10.1126/science.279.5351.720
复制
发表时间：
1998-01-30
期刊：
影响因子：
56.9
通讯作者：
Christiano, AM
中科院分区：
文献类型：
--
作者：
Ahmad, W;Haque, WFU;Christiano, AM
人类遗传性脱发有几种形式，统称为脱发，其分子基础完全未知。用纯合性作图法对一个具有罕见遗传型普秃的家系进行定位，在染色体8p12上以B厘摩间隔建立连锁（连锁得分的优势对数为6.19）。人类同源的小鼠基因，无毛，定位在这一区间的辐射杂交映射，错义突变被发现在受影响的个人。人类无毛基因编码一种在大脑和皮肤中表达受限的锌指转录因子蛋白。
There are several forms of hereditary human hair loss, known collectively as alopecias, the molecular bases of which are entirely unknown. A kindred with a rare, recessively inherited type of alopecia universalis was used to search for a locus by homozygosity mapping, and linkage was established in a B-centimorgan interval on chromosome 8p12 (the logarithm of the odds favoring linkage score was 6.19). The human homolog of a murine gene, hairless, was localized in this interval by radiation hybrid mapping, and a missense mutation was found in affected individuals. Human hairless encodes a putative single zinc finger transcription factor protein with restricted expression in the brain and skin.