Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH
Brudnick Neuropsychiatric Research Institute, Department of Psychiatry; Department of Cancer Biology
Alu Elements; Amino Acid Sequence; Base Sequence; Chromosomes, Human, Pair 3; Exons; Female; Gene Deletion; Gene Expression; Genetic Markers; Hair; Hair Follicle; Heterozygote; Homozygote; Humans; Hypotrichosis; Lipase; Lipid Metabolism; Lod Score; Male; Molecular Sequence Data; Pedigree; Protein Structure, Tertiary; Recombination, Genetic; Retroelements; Russia; Tandem Repeat Sequences
Cancer Biology | Life Sciences | Medicine and Health Sciences
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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Citation: Science. 2006 Nov 10;314(5801):982-5. Link to article on publisher's site
Kazantseva, Anastasiya; Goltsov, Andrey; Zinchenko, Rena A.; Grigorenko, Anastasia P.; Abrukova, Anna V.; Moliaka, Yuri K.; Kirillov, Alexander G.; Guo, Zhiru; Lyle, Stephen; Ginter, Evgeny K.; and Rogaev, Evgeny I., "Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH" (2006). Open Access Articles. Paper 1630.