Philip Dei
Mon, Feb-09-04, 14:18
Annual Review of Genetics December 2003, Vol. 37, pp. 67-90
(doi:10.1146/annurev.genet.37.110801.143233) First published
online as a Review in Advance on June 17, 2003 GENETICS OF
HAIR AND SKIN COLOR
Jonathan L. Rees
Systems Group, Dermatology, University of Edinburgh, Lauriston
Buildings, Lauriston Place, Edinburgh, EH3 9YW, United
Kingdom; email: jrees@staffmail.ed.ac.uk
Abstract: Differences in skin and hair color are principally
genetically determined and are due to variation in the
amount, type, and packaging of melanin polymers produced by
melanocytes secreted into keratinocytes. Pigmentary phenotype
is genetically complex and at a physiological level
complicated. Genes determining a number of rare Mendelian
disorders of pigmentation such as albinism have been
identified, but only one gene, the melanocortin 1 receptor
(MCR1), has so far been identified to explain variation in
the normal population such as that leading to red hair,
freckling, and sun-sensitivity. Genotype-phenotype relations
of the MC1R are reviewed, as well as methods to improve the
phenotypic assessment of human pigmentary status. It is
argued that given advances in model systems, increases in
technical facility, and the lower cost of genotype
assessment, the lack of standardized phenotype assessment is
now a major limit on advance.
http://arjournals.annualreviews.org/action/doSearch?action=ru-
nSearch&type=advanced&result=true&prevSearch=%2Bauthorsfield%-
3A(Rees,JL)
(doi:10.1146/annurev.genet.37.110801.143233) First published
online as a Review in Advance on June 17, 2003 GENETICS OF
HAIR AND SKIN COLOR
Jonathan L. Rees
Systems Group, Dermatology, University of Edinburgh, Lauriston
Buildings, Lauriston Place, Edinburgh, EH3 9YW, United
Kingdom; email: jrees@staffmail.ed.ac.uk
Abstract: Differences in skin and hair color are principally
genetically determined and are due to variation in the
amount, type, and packaging of melanin polymers produced by
melanocytes secreted into keratinocytes. Pigmentary phenotype
is genetically complex and at a physiological level
complicated. Genes determining a number of rare Mendelian
disorders of pigmentation such as albinism have been
identified, but only one gene, the melanocortin 1 receptor
(MCR1), has so far been identified to explain variation in
the normal population such as that leading to red hair,
freckling, and sun-sensitivity. Genotype-phenotype relations
of the MC1R are reviewed, as well as methods to improve the
phenotypic assessment of human pigmentary status. It is
argued that given advances in model systems, increases in
technical facility, and the lower cost of genotype
assessment, the lack of standardized phenotype assessment is
now a major limit on advance.
http://arjournals.annualreviews.org/action/doSearch?action=ru-
nSearch&type=advanced&result=true&prevSearch=%2Bauthorsfield%-
3A(Rees,JL)