Show pageOld revisionsBacklinksBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ====== Genetics of Iris Color ====== FIXME * Eye color is determined by the presence and degree of melanin pigment in the iris * The degree of pigmentation is a polygenic trait ====Genes responsible for iris pigmentation==== ===OCA2=== * 75% of variance is from the OCA2 gene(chromosome 15) * single base change rs12913832 T/C within intron 86 of the upstream HERC2 locus explains almost all of the OCA gene iris pigmentation variation ^ Locus ^ Chromosome ^ Protein ^ SNP ^ Amino Acid ^ Genetic Dz ^ Reference ^ | TYR | 11q14.3 | Tyrosinase | rs1042602 C>A | Ser 192 TYR | Oculocutaneous Albinism type 1 | [[https://onlinelibrary.wiley.com/doi/10.1111/j.1755-148X.2009.00606.x#b59| Frudakis et. al. 2003]] [[https://onlinelibrary.wiley.com/doi/10.1111/j.1755-148X.2009.00606.x#b168|Sulem et al. 2007]] [[https://onlinelibrary.wiley.com/doi/10.1111/j.1755-148X.2009.00606.x#b118|Liu et al. 2009]] | | ::: | ::: | ::: | rs1800422 G>A | Arg402Gln | ::: | ::: | | ::: | ::: | ::: | rs 1126809 G>A | ARG402Gln | ::: | ::: | | ::: | ::: | ::: | rs1393350 G>A | | ::: | ::: | | TYRP1 | 9p23 | TYRP1 | rs1408799 C<T | | Oculocutaneous Albinism type 3 | [[https://onlinelibrary.wiley.com/doi/10.1111/j.1755-148X.2009.00606.x#b59| Frudakis et. al. 2003]] [[https://onlinelibrary.wiley.com/doi/10.1111/j.1755-148X.2009.00606.x#b168|Sulem et al. 2007]] [[https://onlinelibrary.wiley.com/doi/10.1111/j.1755-148X.2009.00606.x#b118|Liu et al. 2009]] | | ::: | ::: | ::: | rs2733832 C>T | | | ::: | | ::: | ::: | ::: | rs683 C>A | | | ::: | | DCT | 13q32 | DCT, TRYP2 | | | | [[https://onlinelibrary.wiley.com/doi/10.1111/j.1755-148X.2009.00606.x#b59| Frudakis et. al. 2003]] | | OCA2-HERC2 | 15q11.2-q12 | P-protein | rs1800401 C>T | Arg305Trp | Oculocutaneous Albinism type 2 | [[https://onlinelibrary.wiley.com/doi/10.1111/j.1755-148X.2009.00606.x#b59| Frudakis et. al. 2003]] [[https://onlinelibrary.wiley.com/doi/10.1111/j.1755-148X.2009.00606.x#b118|Liu et al. 2009]] | | ::: | ::: | ::: | rs1800407 G>A | Arg419Gln | ::: | | | ::: | ::: | ::: | rs1800414 A>G | His615Arg | ::: | | | ::: | ::: | ::: | rs12913832 T>C | | ::: | | | ASIP | 20q11.22 | ASIP | rs4911442 A>G | | | [[https://onlinelibrary.wiley.com/doi/10.1111/j.1755-148X.2009.00606.x#b59| Frudakis et. al. 2003]] | | | | | rs6058017 A>G | | | | | | | | rs6058017(8818 A>G) | | | | | | | | rs4911414 G>T | | | | | SILV | 12q13-q14 | Silver | | | | [[https://onlinelibrary.wiley.com/doi/10.1111/j.1755-148X.2009.00606.x#b59| Frudakis et. al. 2003]] | | MYO5A | 15q21 | MyosinVa | | | Griscelli syndrome | [[https://onlinelibrary.wiley.com/doi/10.1111/j.1755-148X.2009.00606.x#b59| Frudakis et. al. 2003]] | | IRF4 | 6p25.3 | | rs12203592 C>T | | | | | ::: | ::: | | rs1540771 G>A | | | [[https://onlinelibrary.wiley.com/doi/10.1111/j.1755-148X.2009.00606.x#b71|Han et al. 2008]] | | SLC24A4 | 14q32.12 | SLC24A4 | rs12896399 G>T | | | [[https://onlinelibrary.wiley.com/doi/10.1111/j.1755-148X.2009.00606.x#b168|Sulem et al. 2007]] | ====References==== * [[https://onlinelibrary.wiley.com/doi/10.1111/j.1755-148X.2009.00606.x|Genetics of human iris colour and patterns. Sturm RA, Larsson M. Pigment Cell & Melanoma Research 2009;22(5):544-562]]