The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans

Human Genetics

Volumn 116, Issue 5, 2005, Pages 402-406

  Bonilla, Carolina ^a,b   Boxill, Lesley Anne ^b   Mc Donald, Stacey Ann ^b   Williams, Tyisha ^b   Sylvester, Nadeje ^b   Parra, Esteban J ^c   Dios, Sonia ^d   Norton, Heather L ^d   Shriver, Mark D ^d   Kittles, Rick A ^a  

^a OHIO STATE UNIVERSITY   (United States)

^b HOWARD UNIVERSITY COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF TORONTO   (Canada)

^d PENNSYLVANIA STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AGOUTI PROTEIN; ALPHA MELANOCYTE STIMULATING HORMONE RECEPTOR; EUMELANIN; HORMONE RECEPTOR; INTERMEDIN; MELANIN; PHEOMELANIN; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ADULT; AFRICAN AMERICAN; AGOUTI SIGNALING PROTEIN GENE; ALLELE; ANALYSIS OF VARIANCE; ARTICLE; EYE COLOR; FEMALE; GENDER; GENE; GENOTYPE; HAIR COLOR; HUMAN; MALE; MELANOGENESIS; NORMAL HUMAN; PLESIOMORPHY; PRIORITY JOURNAL; REFLECTOMETRY; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN COLOR;

ADULT; AFRICAN AMERICANS; AGE FACTORS; ANALYSIS OF VARIANCE; FEMALE; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEX FACTORS; SKIN PIGMENTATION; VARIATION (GENETICS);

AGOUTI;

EID: 20244369752     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-004-1251-2     Document Type: Article

References (22)

1. Alaluf S, Atkins D, Barrett K, Blount M, Carter N, Heath A (2002) Ethnic variation in melanin content and composition in photoexposed and photoprotected human skin. Pigment Cell Res 15:112-118
2. Bonilla C (2003) Admixture in three Hispanic populations: Ancestry proportions, population structure, and gene mapping. PhD dissertation, The Pennsylvania State University, Pennsylvania
3. Bonilla C, Shriver M, Parra E, Jones A, Fernandez J (2004) Ancestral proportions and their association with skin pigmentation and bone mineral density in Puerto Rican women from New York city. Hum Genet 115:57-68
4. Halder I, Shriver M (2003) Measuring and using admixture to study the genetics of complex diseases. Hum Genomics 1:52-62
5. Hanis C, Chakraborty R, Ferrell R, Schull W (1986) Individual admixture estimates: Disease associations and individual risk of diabetes and gallbladder disease among Mexican-Americans in Starr County, Texas. Am J Phys Anthropol 70:433-441
6. Hoggart C, Parra E, Shriver M, Bonilla C, Kittles R, Clayton D, McKeigue P (2003) Control of confounding of genetic associations in stratified populations. Am J Hum Genet 72:1492-1504 10.1086/375613
7. Hunt G, Donatien P, Lunec J, Todd C, Kyne S, Thody A (1994) Cultured human melanocytes respond to MSH peptides and ACTH. Pigment Cell Res 7:217-221
8. Kanetsky P, Swoyer J, Panossian S, Holmes R, Guerry D, Rebbeck T (2002) A polymorphism in the agouti signaling protein gene is associated with human pigmentation. Am J Hum Genet 70:770-775
9. Kittles R, Chen W, Panguluri R, Ahaghotu C, Jackson A, Ademabowo C, Griffin R, Williams T, Ukoli F, Adams-Campbell L, Kwagyan J, Isaacs W, Freeman V, Dunston G (2002) CYP3A4-V and prostate cancer in African Americans: Causal or confounding association because of population stratification? Hum Genet 110:553-560
10. Lu D, Willard D, Patel I, Kadwell S, Overton L, Kost T, Luther M, Chen W, Woychik R, Wilkinson W, Cone R (1994) Agouti protein is an antagonist of the melanocyte-stimulating-hormone receptor. Nature 371:799-802 10.1038/371799a0
11. Parra E, Hoggart C, Bonilla C, Dios S, Norris J, Marshall J, Hamman R, Ferrell R, McKeigue P, Shriver M (2004) Relation of type 2 diabetes to individual admixture and candidate gene polymorphisms in the Hispanic American population of San Luis Valley, Colorado. J Med Genet 41:e116
12. Rees J (2003) Genetics of hair and skin color. Annu Rev Genet 37:67-90
13. A Robins 1991 Biological perspectives on human pigmentation Cambridge University Press Cambridge
14. Shriver M, Kittles R (2004) Opinion: Genetic ancestry and the search for personalized genetic histories. Nat Rev Genet 5:611-618
15. Shriver MD, Parra EJ (2000) Comparison of narrow-band reflectance spectroscopy and tristimulus colorimetry for measurements of skin and hair color in persons of different biological ancestry. Am J Phys Anthropol 112:17-27
16. Shriver M, Parra E, Dios S, Bonilla C, Norton H, Jovel C, Pfaff C, Jones C, Massac A, Cameron N, Baron A, Jackson T, Argyropoulos G, Jin L, Hoggart C, McKeigue P, Kittles R (2003) Skin pigmentation, biogeographical ancestry and admixture mapping. Hum Genet 112:387-399 12579416
17. Suzuki I, Tada A, Ollmann M, Barsh G, Im S, Lamoreux M, Hearing V, Nordlund J, Abdel-Malek Z (1997) Agouti signaling protein inhibits melanogenesis and the response of human melanocytes to alpha-melanotropin. J Invest Dermatol 108:838-842
18. Voisey J, Van Daal A (2002) Agouti: From mouse to man, from skin to fat. Pigment Cell Res 15:10-18
19. Voisey J, Imbeault P, Hutley L, Prins J, Van Daal A (2002) Body mass index-related human adipocyte agouti expression is sex-specific but not depot-specific. Obes Res 10:447-452
20. Voisey J, Kelly G, Van Daal A (2003) Agouti signal protein regulation in human melanoma cells. Pigment Cell Res 16:65-71
21. Wilson B, Ollmann M, Kang L, Stoffel M, Bell G, Barsh G (1995) Structure and function of ASP, the human homolog of the mouse agouti gene. Hum Mol Genet 4:223-230
22. Zeigler-Johnson C, Panossian S, Gueye S, Jalloh M, Ofori-Adjei D, Kanetsky P (2004) Population differences in the frequency of the agouti signaling protein g.8188A>G polymorphism. Pigment Cell Res 17:185-187