Kazantseva, AnastasiyaGoltsov, AndreyZinchenko, Rena A.Grigorenko, Anastasia P.Abrukova, Anna V.Moliaka, Yuri K.Kirillov, Alexander G.Guo, ZhiruLyle, StephenGinter, Evgeny K.Rogaev, Evgeny I2022-08-232022-08-232006-11-112009-03-31Science. 2006 Nov 10;314(5801):982-5. <a href="http://dx.doi.org/10.1126/science.1133276">Link to article on publisher's site</a>1095-9203 (Electronic)10.1126/science.113327617095700https://hdl.handle.net/20.500.14038/38785The 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.en-USAlu ElementsAmino Acid SequenceBase SequenceChromosomes, Human, Pair 3ExonsFemaleGene DeletionGene ExpressionGenetic MarkersHairHair FollicleHeterozygoteHomozygoteHumansHypotrichosisLipaseLipid MetabolismLod ScoreMaleMolecular Sequence DataPedigreeProtein Structure, TertiaryRecombination, GeneticRetroelementsRussiaTandem Repeat SequencesCancer BiologyLife SciencesMedicine and Health SciencesJournal Articlehttps://escholarship.umassmed.edu/oapubs/1630805451oapubs/1630