Human pigmentation genes: identification, structure and consequences of polymorphic variation

Sturm, R. A., Teasdale, R. D. and Box, N. F. (2001) Human pigmentation genes: identification, structure and consequences of polymorphic variation. Gene, 277 1-2: 49-62. doi:10.1016/S0378-1119(01)00694-1


Author Sturm, R. A.
Teasdale, R. D.
Box, N. F.
Title Human pigmentation genes: identification, structure and consequences of polymorphic variation
Journal name Gene   Check publisher's open access policy
ISSN 0378-1119
ISBN 0378-119
Publication date 2001-01-01
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1016/S0378-1119(01)00694-1
Volume 277
Issue 1-2
Start page 49
End page 62
Total pages 14
Place of publication Amsterdam, North Holland
Publisher Elsevier Science
Language eng
Subject C1
270200 Genetics
780105 Biological sciences
Abstract The synthesis of the visible pigment melanin by the melanocyte cell is the basis of the human pigmentary system, those genes directing the formation, transport and distribution of the specialised melanosome organelle in which melanin accumulates can legitimately be called pigmentation genes. The genes involved in this process have been identified through comparative genomic studies of mouse coat colour mutations and by the molecular characterisation of human hypopigmentary genetic diseases such as OCA1 and OCA2. The melanocyte responds to the peptide hormones a-MSH or ACTH through the MC1R G-protein coupled receptor to stimulate melanin production through induced maturation or switching of melanin type. The pheomelanosome, containing the key enzyme of the pathway tyrosinase, produces light red/yellowish melanin, whereas the eumelanosome produces darker melanins via induction of additional TYRP1, TYRP2, SILV enzymes, and the P-protein. Intramelanosomal pH governed by the P-protein may act as a critical determinant of tyrosinase enzyme activity to control the initial step in melanin synthesis or TYRP complex formation to facilitate melanogenesis and melanosomal maturation. The search for genetic variation in these candidate human pigmentation genes in various human populations has revealed high levels of polymorphism in the MC1R locus, with over 30 variant alleles so far identified. Functional correlation of MC1R alleles with skin and hair colour provides evidence that this receptor molecule is a principle component underlying normal human pigment variation. (C) 2001 Elsevier Science B.V. All rights reserved.
Keyword Genetics & Heredity
Melanocyte
Melanin
Tyrosinase
P-gene
Mcir
Human Melanocortin-1 Receptor
Human Tyrosinase Gene
Red Hair
Silver Locus
Genomic Organization
Murine Melanocytes
Ocular Albinism
Human Tyrp1
Protein
Q-Index Code C1

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collection: School of Medicine Publications
 
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Created: Wed, 15 Aug 2007, 02:01:15 EST