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

Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH. Brian Sims Peter Im. Overview. Authors What is Alopecia? Purpose Methods Results Summary. Authors. Science Magazine – 10 November 2006 – pp 982-985. Anastasiya Kazantseva 1,2

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

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  1. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Brian Sims Peter Im

  2. Overview • Authors • What is Alopecia? • Purpose • Methods • Results • Summary

  3. Authors Science Magazine – 10 November 2006 – pp 982-985 • Anastasiya Kazantseva1,2 • Andrew Goltsov2,3 • Rena Zinchenko4 • Anastasia P. Grigorenko1,2 • Anna V. Abrukova5 • Yuri K. Moliaka1,2 • Alexander G. Kirillov6 • Zhiru Guo7 • Stephen Lyle7 • Evgeny K. Ginter4 • Evgeny I. Rogaev1,2,3,8

  4. Authors • 1Brudnick Neuropsychiatric Research Institute • 2Laboratory of Molecular Brain Genetics • 3Lomonosov Moscow State University • 4National Research Center for Medical Genetics • 5GUZ’s President’s Prenatal Center of Chuvash Republic • 6Ministry of Health and Social Development of Chuvash Republic • 7Department of Cancer Biology and Pathology • 8Vavilov Institute of General Genetics

  5. What is Alopecia? • Alopecia • Areata • Patches can occur anywhere on the body but most prominent on scalp • Totalis • Total hair loss on the scalp only • Universalis • Total loss of body hair and scalp

  6. Purpose • Identifying a gene mutation in LIPH within two populations • Trying to determine whether or not… • Gene mutation was disease associated • Lipase H participates in hair growth and development • Linked to chromosome 3q27

  7. Methods • Screened approximately 350,000 individuals • Half Mari individuals • Half Chuvash individuals • Affected individuals • Found by STR markers • PCR • RT-PCR

  8. Methods Hair fibers from affected individuals showed common dystrophic structural alterations.* Hair follicle of affected individual.* Hair follicle of unaffected individual.* B* - scale bar, 100µM C,D* - scale bar, 50µM

  9. Methods • Identification of a mutant gene

  10. Methods • Deletion of LIPH Exon 4 found in affected individuals

  11. Results • Upper panel = Mari populations • Lower panel = Chuvash populations Upper arrow represents normal allele Lower arrow represents mutant deletion allele

  12. Results • RT-PCR • Lane 1-affected • Lane 2- unaffected • Lane 3- negative control • Micrograph of hair follicle • Shows sections used for RNA preparation

  13. Results • Semiquantitative RT-PCR analysis of LIPH mRNA

  14. Summary • Alopecia • Mutations were not disease associated • Exon 4 on LIPH • Exon 4 is an evolutionarily conserved domain

  15. Questions?

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