| Both sides previous revision Previous revision | |
| iris_color [2026/01/06 20:29] – Scott Larson | iris_color [2026/01/07 20:21] (current) – [Genes responsible for iris pigmentation] Scott Larson |
|---|
| * 75% of variance is from the OCA2 gene(chromosome 15) | * 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 | * single base change rs12913832 T/C within intron 86 of the upstream HERC2 locus explains almost all of the OCA gene iris pigmentation variation |
| ===MITF=== | |
| |
| ===PAX6=== | ^ 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==== | ====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]] | * [[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]] |