Table 2.
Genes implicated in mammalian hcoErosions that harbor monogenic disease variants in human patients (disease mutations in HGMD (28))
| Gene | Associated human monogenic disease | Species with gene hcoErosion |
|---|---|---|
| A2ML1 | • Noonan syndrome | Naked mole-rat, brush-tailed rat, guinea pig, chinchilla |
| • Otitis media (susceptibility to) | ||
| CETP | • Higher/Lower HDL cholesterol level | (I)Bactrian camel, alpaca |
| • Hyperalphalipoproteinaemia | (II)Goat, sheep, Tibetan antelope, cow | |
| • Cholesterol ester transfer protein deficiency | ||
| CRYBB3 | • Cataract | Microbat, big brown bat, David‘s myotis bat |
| CRYGB | • Congenital cataract | Cape golden mole, tenrec |
| EYS | • Retinitis pigmentosa | Mouse, rat, Chinese hamster, golden hamster, prairie vole |
| • Retinal dystrophy | ||
| • Peripheral dystrophy | ||
| • Usher syndrome | ||
| FCN2 | • FCN2 deficiency | Goat, sheep, Tibetan antelope, cow |
| GCKR | • Elevated HDL-cholesterol | Microbat, big brown bat, David‘s myotis bat |
| • Hypertriglyceridaemia | ||
| HMGCS2 | • Mitochondrial HMG-CoA synthase deficiency | Black flying-fox, megabat |
| HSD3B2 | • 3 beta-hydroxysteroid dehydrogenase deficiency | Goat, sheep, Tibetan antelope, cow |
| • Adrenal hyperplasia | ||
| • Hypospadias, non-syndromic | ||
| • Idiopathic hypospadias | ||
| • Pseudohermaphroditism | ||
| KLKB1 | • Prekallikrein deficiency | Dolphin, killer whale |
| KRT3 | • Corneal dystrophy, Meesmann | Mouse, rat |
| MESP1 | • Tetralogy of Fallot | Naked mole-rat, brush-tailed rat, guinea pig, chinchilla |
| • Ventricular septal defect | ||
| MMP21 | • Heterotaxy | Pig, dolphin, killer whale, Bactrian camel, alpaca, goat, sheep, Tibetan antelope, cow |
| MYD88 | • MYD88 deficiency | Brush-tailed rat, chinchilla |
| OPTC | • Glaucoma, primary open angle | Cape golden mole, tenrec, microbat, big brown bat, David‘s myotis bat |
| PCSK9 | • Hypercholesterolaemia | (I)Cat, dog, ferret, panda, pacific walrus, Weddell seal |
| • Low/High LDL cholesterol | (II)Goat, sheep, Tibetan antelope, cow | |
| PLA2G2A | • Colorectal cancer | Dolphin, killer whale |
| RIPPLY1 | • Intellectual disability | Black flying-fox, megabat |
| SFXN4 | • Colorectal cancer | (I)Chinese hamster, golden hamster, prairie vole |
| • Mitochondriopathy and macrocytic anaemia | (II)Naked mole-rat, brush-tailed rat, guinea pig, chinchilla | |
| STAP1 | • Hypercholesterolaemia | Dolphin, killer whale |
| TCN1 | • Transcobalamin I deficiency | Mouse, rat |
| TNFRSF6B | • Systemic lupus erythematosus | Mouse, rat, Chinese hamster, golden hamster, prairie vole |
| UMOD | • Chronic kidney disease | Microbat, big brown bat, David‘s myotis bat, black flying-fox, megabat |
| • Congenital anomalies of the kidney and urinary tract | ||
| • FJHN/MCKD syndrome | ||
| • Glomerulocystic kidney disease | ||
| • Uromodulin-associated kidney disease | ||
| • Hyperuricaemic nephropathy | ||
| XAF1 | • Multiple sessile serrated adenoma | Cat, dog, ferret, panda, pacific walrus, Weddell seal |
| ZNF543 | • IgA nephropathy | Cat, dog, ferret, panda, pacific walrus, Weddell seal |
| ZNF589 | • Intellectual disability | Ferret, panda, pacific walrus, Weddell seal |
| ZP1 | • Infertility | Pig, dolphin, killer whale, Bactrian camel, alpaca, goat, sheep, Tibetan antelope, cow |
(I), (II) Independent hcoErosion loss events: (I) species belonging to group I (II) species belonging to group II.