Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH
Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH
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DOI：
10.1126/science.1133276
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发表时间：
2006-11-10
期刊：
影响因子：
56.9
通讯作者：
Ginter, Evgeny K.
中科院分区：
文献类型：
--
作者：
Kazantseva, Anastasiya;Goltsov, Andrey;Ginter, Evgeny K.
控制人类头发生长和头皮脱发的分子机制知之甚少。通过对来自俄罗斯伏尔加-乌拉尔地区的两个人群中约35万人进行筛查，我们在显示遗传性脱发和毛发生长缺陷的家庭中发现了一种基因突变。受影响的个体是染色体3q 27上LIPH基因缺失的纯合子，由短散布核元件-逆转录转座子介导的重组引起。LIPH基因在毛囊中表达并编码称为脂肪酶H的磷脂酶（或者称为膜相关磷脂酸选择性磷脂酶A1 α），这是一种调节生物活性脂质产生的酶。这些结果表明，脂肪酶H参与头发的生长和发育。
The molecular mechanisms controlling human hair growth and scalp hair loss are poorly understood. By screening about 350,000 individuals in two populations from the Volga-Ural region of Russia, we identified a gene mutation in families who show an inherited form of hair loss and a hair growth defect. Affected individuals were homozygous for a deletion in the LIPH gene on chromosome 3q27, caused by short interspersed nuclear element - retrotransposon - mediated recombination. The LIPH gene is expressed in hair follicles and encodes a phospholipase called lipase H ( alternatively known as membrane-associated phosphatidic acid - selective phospholipase A1 alpha), an enzyme that regulates the production of bioactive lipids. These results suggest that lipase H participates in hair growth and development.