Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH
Authors
Kazantseva, AnastasiyaGoltsov, Andrey
Zinchenko, Rena A.
Grigorenko, Anastasia P.
Abrukova, Anna V.
Moliaka, Yuri K.
Kirillov, Alexander G.
Guo, Zhiru
Lyle, Stephen
Ginter, Evgeny K.
Rogaev, Evgeny I.
UMass Chan Affiliations
Department of Cancer BiologyBrudnick Neuropsychiatric Research Institute, Department of Psychiatry
Document Type
Journal ArticlePublication Date
2006-11-11Keywords
Alu ElementsAmino 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
Metadata
Show full item recordAbstract
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.Source
Science. 2006 Nov 10;314(5801):982-5. Link to article on publisher's siteDOI
10.1126/science.1133276Permanent Link to this Item
http://hdl.handle.net/20.500.14038/38785PubMed ID
17095700Related Resources
Link to Article in PubMedae974a485f413a2113503eed53cd6c53
10.1126/science.1133276