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solute carrier family 24, member 5
Identifiers
Symbol SLC24A5
Entrez 283652
HUGO 20611
OMIM 609802
RefSeq NM_205850
UniProt Q71RS6
Other data
Locus Chr. 15 q15.2

SLC24A5 (solute carrier family 24, member 5) is a gene that is thought to explain between 25 and 38% of skin pigmentation variation between Black African and White European humans.

Research led by cancer geneticist Keith Cheng and anthropologist Mark D. Shriver at Penn State University along with a number of other institutions discovered that the gene has two primary alleles that differ in only one nucleotide, changing the 111th amino acid from alanine to threonine. [1][2][3]

The threonine allele was present in 98.7 to 100% among several European samples, while the alanine form was found in 93 to 100% of samples of Africans, East Asians and Indigenous Americans. The variation is a SNP polymorphism rs1426654, which had been previously shown to be second among 3011 tabulated SNPs ranked as ancestry-informative markers. They also showed that SLC24A5 explains between 25 and 38% of the European-African difference in skin melanin index.

The discovery of this gene may have interesting social consequences because of its bearing on the genetics of ethnic differences. It has obvious application to forensic science as well.

The SLC24A5 gene is located on the long (q) arm of chromosome 15 on position 21.1, from base pair 46,200,461 to base pair 46,221,881.

It is currently estimated that the threonine allele became predominant amongst Europeans 5,300 to 12,000 years ago.[4]

See also

References

  1. ^ Lamason RL, Mohideen MA, Mest JR, et al. (2005). "SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans". Science 310 (5755): 1782–6. doi:10.1126/science.1116238. PMID 16357253.  
  2. ^ BBC article
  3. ^ Penn State University article
  4. ^ Gibbons A (2007). "American Association of Physical Anthropologists meeting. European skin turned pale only recently, gene suggests". Science 316 (5823): 364. doi:10.1126/science.316.5823.364a. PMID 17446367. http://img46.imageshack.us/img46/4784/eurospaleonlyrecentlypu0.jpg.  

External links

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