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. 2022 Oct 19;17(10):e0276376. doi: 10.1371/journal.pone.0276376

Table 1. Loss-of-function phenotypes of melanogenesis genes across vertebrates.

Gene Species with identified loss-of-function variants Role of protein Loss-of-function phenotype
TYR Fish Japanese carp [35], Japanese rice fish [36] Rate-limiting enzyme in melanin synthesis pathway Severe loss of melanin
Frogs and snakes Japanese wild frogs (three species) [37], Japanese rat snake [38]
Birds Chicken [3941]
Ungulates Water buffalo [42], Cattle [43], Red deer [44], Asinara donkey [45]
Rodents House mouse [46], Wistar rat [47], Domestic guinea pig [48]
Primates Crab-eating macaque [49], Capuchin monkey [50], Hamadryas baboon [51], Human [reviewed in 52]
Other mammals Humpback whale [53], Ferret [54], American mink [55], Domestic cat [5658], Silver fox [59]
OCA2 Fish Mexican cavefish [60], Lake Malawi cichlid [61] Cl- channel regulating melanosome pH Moderate loss of melanin
Snakes Corn snake [62]
Mammals Domestic dog [63], Bama miniature pig [64], House mouse [65], Human [reviewed in 52]
TYRP1 Fish Zebrafish [66] Enzymes contributing to melanin synthesis Mild loss of melanin
Birds Saker falcon [67]
Mammals Chinese indigenous pig [68], Liangshan pig [69], Domestic dog [reviewed in 70], Domestic cat [58,71], Soay sheep [72], Valais Red sheep [73], American mink [74], Human [reviewed in 52]
TYRP2 Mammals House mouse [75,76]
SLC7A11 Mammals House mouse [77] Solute transporters
SLC24A5 Fish Zebrafish [78]
Mammals Horse [79], Human [reviewed in 52]
SLC45A2 Fish Japanese rice fish [80]
Birds Chicken and Japanese quail [81]
Mammals Domestic dog [82], Horse [83], House mouse [84], Bengal tiger [85], Western lowland gorilla [86], Human [reviewed in 52]