TABLE 1

Candidate genes tested for sequence associations with human iris pigmentation

GeneNameHomology/model phenotypeaReferences
AP3B1 Adaptor-related protein complex 3, β-1 subunitMouse “pearl” human HPS2Balkema et al. (1983)
ASIP Agouti signaling proteinMouse “agouti”Kwon et al. (1994)
Klebig et al. (1995)
DCT Dopachrome tautomeraseTYR-related protein 2 mouse “slaty”Kwon (1993)
Jackson et al. (1992)
MC1R Melanocortin 1 receptorMouse “extension” (e ADP)Robbins et al. (1993)
OCA2 Oculocutaneous albinism IIMouse pink-eyed dilution (p)Lyon et al. (1992)
Gardner et al. (1992)
SILV Silver homologueMouse “silver” (si)Kwon et al. (1991)
TYR TyrosinaseMouse “albino” (c), HimalayanBarton et al. (1988)
King et al. (1989)
Kwon et al. (1989)
TYRP1 Tyrosinase related protein 1Mouse “brown” (b)Jackson (1988)
MYO5A Myosin VAMouse “dilute” (d)Copeland et al. (1983)
Strobel et al. (1990)
POMC ProopiomelanocortinMouse Pomc1Krude et al. (1998)
AIM (MATP or AIM-1)Membrane associated transporter proteinMouse “underwhite” (uw)Newton et al. (2001)
AP3D1 Adaptor-related protein complex 3, Δ-1 subunitMouse “mocha” (mh)None
RAB RAB27A oncogeneMouse “ashen” (ash)Wilson et al. (2000)
  • a Name of mutant is in parentheses.