Hair Loss: Genetics

Abstract

Hair formation is a complex molecular process, and abnormal hair is a feature of many genetic disorders. There is increasing understanding of the molecular basis of several single‐gene disorders with hair loss, although the genetic basis for the commonest forms of hair loss is not well understood.

Keywords: skin disorder; genodermatoses; epidermis; dermis; dermatology

References

Ahmad M, ul Haque MF, Brancolini V, et al. (1997) Alopecia universalis associated with a mutation in the human hairless gene. Science 279: 720–724.

Barsh G (1999) Of ancient tales and hairless tails. Nature Genetics 22: 315–316.

Chavanas S, Bodemer C, Rochat A, et al. (2000) Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nature Genetics 25: 141–142.

Cotsarelis G and Millar SE (2001) Towards a molecular understanding of hair loss and its treatment. Trends in Molecular Medicine 7: 293–301.

Cotsarelis G, Sun T‐T and Lavker RM (1990) Label‐retaining cells reside in the bulge area of pilosebaceous unit: implications for follicular stem cells, hair cycle, and skin carcinogenesis. Cell 61: 1329–1337.

Frank J, Pignata C, Panteleyev AA, et al. (1999) Exposing the human nude phenotype. Nature 398: 473–474.

Küster W and Happle R (1984) The inheritance of common baldness: two B or not two B? Journal of the American Academy of Dermatology 11: 921–926.

Ludecke HJ, Schaper J, Meinecke P, et al. (2001) Genotypic and phenotypic spectrum in tricho‐rhino‐phalangeal syndrome types I and III. American Journal of Human Genetics 68: 81–91.

McGrath JA, Duijf PH, Doetsch V, et al. (2001) Hay–Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Human Molecular Genetics 10: 221–229.

McGrath JA, McMillan JR, Shemanko CS, et al. (1997) Mutations in the plakophilin 1 gene can result in ectodermal dysplasia/skin fragility syndrome. Nature Genetics 17: 240–244.

Panteleyev AA, Paus R, Ahmad W and Sundberg JP (1998) Towards defining the pathogenesis of the hairless phenotype. Journal of Investigative Dermatology 110: 902–907.

Sprecher E, Bergman R, Richard G, et al. (2001) Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P‐cadherin. Nature Genetics 29: 134–136.

Zhu W, Malloy PJ, Delvin E, Chabot G and Feldman D (1998) Hereditary 1,25‐dihydroxyvitamin D‐resistant rickets due to an opal mutation causing premature termination of the vitamin D receptor. Journal of Bone and Mineral Research 13: 259–264.

Further Reading

Freire‐Maria N and Pinheiro M (1985) Ectodermal Dysplasias. New York, NY: AR Liss Incorporated.

Hardy MH (1992) The secret life of the hair follicle. Trends in Genetics 8: 55–61.

Irvine AD and Christiano AM (2001) Hair on a gene string: recent advances in understanding the molecular genetics of hair loss. Clinical and Experimental Dermatology 26: 59–71.

Irvine AD and McLean WH (1999) Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype–genotype correlation. British Journal of Dermatology 140: 815–828.

Kaufman CK and Fuchs E (2000) Its got you covered. NF‐κB in the epidermis. Journal of Cell Biology 149: 999–1004.

Monreal AW, Ferguson BM, Headon DJ, et al. (1999) Mutations in the human homolog of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nature Genetics 22: 366–369.

Oro AE and Scott MP (1998) Splitting hairs: dissecting roles of signaling systems in epidermal development. Cell 95: 575–578.

Price JA, Bowden DW, Wright JT, Pettenati MJ and Hart TC (1998) Identification of a mutation in DLX3 associated with tricho‐dento‐osseous (TDO) syndrome. Human Molecular Genetics 7: 563–569.

Priolo M and Lagana C (2001) Ectodermal dysplasias: a new clinical–genetic classification. Journal of Medical Genetics 38: 579–585.

Richard G (2000) Connexins: a connection with the skin. Experimental Dermatology 9: 77–96.

Stenn KS and Paus R (2001) Controls of hair follicle cycling. Physiological Reviews 81: 449–494.

Zhou P, Byrne C, Jacobs J and Fuchs E (1995) Lymphoid enhancer factor 1 directs hair follicle patterning and epithelial cell fate. Genes and Development 9: 700–713.

Zonana J, Elder ME, Schneider LC, et al. (2000) A novel X‐linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK‐gamma (NEMO). American Journal of Human Genetics 67: 1555–1562.

Web Links

ATP7A (ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome)); Locus ID: 538. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=538

EDAR (ectodysplasin 1, anhidrotic receptor); Locus ID: 10913. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=10913

GJB6 (gap junction protein, beta 6 (connexin 30)); Locus ID: 10804. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=10804

JUP (junction plakoglobin); Locus ID: 3728. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3728

ATP7A (ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome)); MIM number: 300011. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?300011

EDAR (ectodysplasin 1, anhidrotic receptor); MIM number: 604095. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?604095

GJB6 (gap junction protein, beta 6 (connexin 30)); MIM number: 604418. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?604418

JUP (junction plakoglobin); MIM number: 173325. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?173325

Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

How to Cite close
Irvine, Alan(Jan 2006) Hair Loss: Genetics. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0006103]