Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH.
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.
Kazantseva
Anastasiya
A
Brudnick Neuropsychiatric Research Institute, Department of Psychiatry, University of Massachusetts Medical School, 303 Belmont Street, Worcester, MA 01604, USA.
Goltsov
Andrey
A
Zinchenko
Rena
R
Grigorenko
Anastasia P
AP
Abrukova
Anna V
AV
Moliaka
Yuri K
YK
Kirillov
Alexander G
AG
Guo
Zhiru
Z
Lyle
Stephen
S
Ginter
Evgeny K
EK
Rogaev
Evgeny I
EI
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
D005819:Genetic Markers; C504173:LIPC protein, human; D018626:Retroelements; D008049:Lipase