Table 2.
Important discoveries of the molecular basis of Mendelian traits not mentioned elsewhere in this review, arranged chronologically.
| Important discovery | OMIA ID | References† |
|---|---|---|
| First report of a mutation causing increased ovulation rate in sheep [fecundity, Inverdale, FecX(I)] | 000386-9940 | Galloway et al. (2000) |
| Discovery of a causal mutation for the Booroola fecundity gene in sheep | 000383-9940 | Wilson et al. (2001); Mulsant et al. (2001); Souza et al. (2001) |
| Discovery of a causal mutation for adverse reaction to a range of important drugs in dogs | 001402-9615 | Mealey et al. (2001) |
| Discovery of a causal mutation for the callipyge mutation in sheep | 001354-9940 | Freking et al. (2002); Smit et al. (2003) |
| Discovery of a causal mutation for the ‘trademark’ Siamese and Burmese phenotypes in cats | 000202-9685 | Lyons et al. (2005); Schmidt-Küntzel et al. (2005) |
| First report of an inherited disorder in non-laboratory animals being due to an expanded repeat | 000690-9615 | Lohi et al. (2005) |
| Discovery of a coat colour polymorphism in the woolly mammoth | 001199-37349 | Rompler et al. (2006) |
| First report of an animal disorder due to a spontaneous mutation in mitochondrial DNA | 001130-9615 | Li et al. (2006) |
| Discovery of the coding sequence for yellow skin in chickens, which also showed that present-day poultry evolved not only from the red jungle fowl (as Darwin had correctly surmised), but also from the grey jungle fowl, which was the source of the yellow-skin allele | 001449-9031 | Eriksson et al. (2008) |
| Discovery of a most unusual causal mutation for the iconic white fleece phenotype of sheep | 000201-9940 | Norris & Whan (2008) |
| Discovery of the causal mechanism for a classic horse phenotype, namely greying with age | 001356-9796 | Rosengren Pielberg et al. (2008) |
| Discovery of the causal mutation for the classic feline tabby coat colour pattern | 001429-9685 | Kaelin et al. (2012) |
| Discovery of the most unusual molecular basis of colour sidedness in cattle | 001576-9913 | Durkin et al. (2012) |
| An explanation of the molecular basis of rose comb in chickens that also provides a molecular explanation for the very first case of epistasis ever reported (by Bateson & Punnett 1905), namely the interaction between the rose comb and pea comb loci, resulting in walnut comb | 000884-9031 | Imsland et al. (2012) |
| Identification of a candidate causal mutation for polledness in non-Holstein cattle | 000483-9913 | Medugorac et al. (2012) |
| Discovery of a mutation that plays a major role in determining modes of locomotion in mammals | 001715-9796 | Andersson et al. (2012) |
OMIA, Online Mendelian Inheritance in Animals.
†
These and other ‘landmark’ papers are presented in an annotated list under a tab labelled ‘Landmarks, Reviews, Maps’, accessible from the OMIA home page (http://omia.angis.org.au).