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

doi:10.1126/science.1133276

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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 scalphair loss are poorly understood. By screening about 350,000individuals in two populations from the Volga-Ural region ofRussia, we identified a gene mutation in families who show aninherited form of hair loss and a hair growth defect. Affectedindividuals were homozygous for a deletion in the LIPH geneon chromosome 3q27, caused by short interspersed nuclear element–retrotransposon–mediatedrecombination. The LIPH gene is expressed in hair folliclesand encodes a phospholipase called lipase H (alternatively knownas membrane-associated phosphatidic acid–selective phospholipaseA1 ${alpha}$ ), an enzyme that regulates the production of bioactive lipids.These results suggest that lipase H participates in hair growthand 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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