Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH |
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Authors: | Kazantseva Anastasiya Goltsov Andrey Zinchenko Rena Grigorenko Anastasia P Abrukova Anna V Moliaka Yuri K Kirillov Alexander G Guo Zhiru Lyle Stephen Ginter Evgeny K Rogaev Evgeny I |
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Institution: | Brudnick Neuropsychiatric Research Institute, Department of Psychiatry, University of Massachusetts Medical School, 303 Belmont Street, Worcester, MA 01604, USA. |
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Abstract: | 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 A1alpha), an enzyme that regulates the production of bioactive lipids. These results suggest that lipase H participates in hair growth and development. |
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