title: Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH.
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.
authors.affiliation: Brudnick Neuropsychiatric Research Institute, Department of Psychiatry, University of Massachusetts Medical School, 303 Belmont Street, Worcester, MA 01604, USA.
authors.forename: Anastasiya
authors.initials: A
authors.lastname: Kazantseva
authors.forename: Andrey
authors.initials: A
authors.lastname: Goltsov
authors.forename: Rena
authors.initials: R
authors.lastname: Zinchenko
authors.forename: Anastasia P
authors.initials: AP
authors.lastname: Grigorenko
authors.forename: Anna V
authors.initials: AV
authors.lastname: Abrukova
authors.forename: Yuri K
authors.initials: YK
authors.lastname: Moliaka
authors.forename: Alexander G
authors.initials: AG
authors.lastname: Kirillov
authors.forename: Zhiru
authors.initials: Z
authors.lastname: Guo
authors.forename: Stephen
authors.initials: S
authors.lastname: Lyle
authors.forename: Evgeny K
authors.initials: EK
authors.lastname: Ginter
authors.forename: Evgeny I
authors.initials: EI
authors.lastname: Rogaev
mesh_terms: D020087:Alu Elements; D000595:Amino Acid Sequence; D001483:Base Sequence; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D005091:Exons; D005260:Female; D017353:Gene Deletion; D015870:Gene Expression; D005819:Genetic Markers; D006197:Hair / Q000254:growth & development*; D018859:Hair Follicle / Q000201:enzymology; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D008049:Lipase / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D050356:Lipid Metabolism; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017434:Protein Structure, Tertiary; D011995:Recombination, Genetic; D018626:Retroelements; D012426:Russia; D020080:Tandem Repeat Sequences
chemical_list: D005819:Genetic Markers; C504173:LIPC protein, human; D018626:Retroelements; D008049:Lipase