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.
We describe a hereditary form of alopecia in an aboriginal Finno-Ugric population. Linkage and mutation analyses of 21 families showed that the disorder was not linked to the hairless gene on chromosome 8. This implies that an isolated hairless defect caused by a single gene is a genetically heterogeneous disorder in human populations.
