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Science 314 (5801): 982-985

Copyright © 2006 by the American Association for the Advancement of Science

Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH

Anastasiya Kazantseva,1,2 Andrey Goltsov,2,3 Rena Zinchenko,4 Anastasia P. Grigorenko,1,2 Anna V. Abrukova,5 Yuri K. Moliaka,1,2 Alexander G. Kirillov,6 Zhiru Guo,7 Stephen Lyle,1 Evgeny K. Ginter,4 Evgeny I. Rogaev1,2,3,8*

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 A1{alpha}), an enzyme that regulates the production of bioactive lipids. These results suggest that lipase H participates in hair growth and development.

1 Brudnick Neuropsychiatric Research Institute, Department of Psychiatry, University of Massachusetts Medical School, 303 Belmont Street, Worcester, MA 01604, USA.
2 Laboratory of Molecular Brain Genetics, Research Center of Mental Health, Russian Academy of Medical Sciences (RAMS), 113152, Moscow, Russian Federation (RF).
3 Lomonosov Moscow State University, Faculty of Bioengineering and Bioinformatics, 119992, Moscow, RF.
4 National Research Center for Medical Genetics, RAMS, RF.
5 GUZ President's Prenatal Center of Chuvash Republic, Cheboksary, Uritsky Street 43, RF.
6 Ministry of Health and Social Development of Chuvash Republic, Cheboksary, Uritsky Street 43, RF.
7 Department of Cancer Biology and Pathology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
8 Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, RF.

* To whom correspondence should be addressed. E-mail: Evgeny.Rogaev{at}umassmed.edu


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