OMIA 001745-9823 : Coat colour, white belt, KIT-related in Sus scrofa

Possibly relevant human trait(s) and/or gene(s) (MIM number): 172800

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2012

Species-specific symbol: I^Be

History: This trait was first studied by Spillman (1907).

Inheritance: Spillman (1907) postulated that the belt phenotype required a dominant allele at each of two autosomal loci. By the early 1980s, the trait was regarded as single-locus autosomal dominant (Ollivier and Sellier, 1982). The results of Rubin et al. (2012) indicate four alleles at this locus, namely Wild-type, Dominant white (OMIA 000209-9825), Patch (OMIA 001743-9825) and Belt (this entry). (with thanks to Leif Andersson)

Mapping: From a genome scan with 65 microsatellite markers on 67 backcross offspring from matings between non-belted sires and F1 (belted x non-belted) dams, Giuffra et al. (1999) linkage-mapped the belt locus to the centromeric region of chromosome SSC8, which contains two potential candidate genes, namely KIT and EDNRA. They then showed complete co-segregation of the belt phenotype with a SNP at position 2678 of exon 19 of the KIT gene, which strongly suggested that belt is an allele at the KIT locus. This study established for the first time that Belt is an allele to the Dominant white allele (see OMIA 000209-9825). Before this study Belt and Dominant white were considered to be two independent loci in the pig. (with thanks to Leif Andersson)

Molecular basis: Utilising extensive genome sequence data from tens of pigs, Rubin et al. (2012) showed that Hampshire pigs (belted phenotype) have "a 4.3-kb duplication (DUP2) located ∼100 kb upstream of KIT and a 23-kb duplication (DUP3) ∼100 kb downstream of KIT, which in turn contained a fourth ∼4.3-kb duplication (DUP4) not present on wild-type chromosomes". Across four breeds, belted pigs always had DUP2 and DUP4, but some lacked DUP3. The authors "conclude that DUP2–4 is strongly associated with the presence of the Belt and propose that one or more of these duplications are required for manifestation of the Belt phenotype . . . DUP2 is the strongest causative candidate because it overlaps with one of the most well-conserved noncoding regions located upstream of KIT".

Breeds: Bavarian Landschwein, Essex, Hampshire, Wessex Saddleback.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog Sus scrofa 8 NC_010450.4 (41402334..41492306) KIT Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Bavarian Landschwein Essex Hampshire Wessex Saddleback Coat colour, white belt, KIT-related KIT complex rearrangement Hampshire pigs (belted phenotype) have "a 4.3-kb duplication (DUP2) located ~¼100 kb upstream of KIT and a 23-kb duplication (DUP3) ~100 kb downstream of KIT, which in turn contained a fourth ~4.3-kb duplication (DUP4) not present on wild-type chromosomes". Across four breeds, belted pigs always had DUP2 and DUP4, but some lacked DUP3. 2012 23151514

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2012 Rubin, C.J., Megens, H.J., Barrio, A.M., Maqbool, K., Sayyab, S., Schwochow, D., Wang, C., Carlborg, O., Jern, P., Jørgensen, C.B., Archibald, A.L., Fredholm, M., Groenen, M.A., Andersson, L. :
Strong signatures of selection in the domestic pig genome. Proc Natl Acad Sci U S A :, 2012. Pubmed reference: 23151514. DOI: 10.1073/pnas.1217149109.
2006 Xu, GL., Ren, J., Ding, NS., Ai, HS., Guo, YM., Chen, CY., Huang, LS. :
Genetic analysis of the KIT and MC1R genes in Chinese indigenous pigs with belt-like coat color phenotypes. Anim Genet 37:518-9, 2006. Pubmed reference: 16978185.
1999 Giuffra, E., Evans, G., Tornsten, A., Wales, R., Day, A., Looft, H., Plastow, G., Andersson, L. :
The Belt mutation in pigs is an allele at the Dominant white (I/KIT) locus Mammalian Genome 10:1132-1136, 1999. Pubmed reference: 10594235.
1982 Ollivier, L., Sellier, P. :
Pig genetics: a review Annales de Genetique et de Selection Animale 14:481-544, 1982.
1970 Ten Cate, C.L. :
[White-belted pigs in the middle ages.] Zeitschrift fur Tierzuchtung und Zuchtungsbiologie 87:220-229, 1970.
1954 Gamba, F.N. :
L'allevamento della razza suini Cinta senese nella tenuta di Arceno [Breeding the Sienese Belted on the Arceno estate] Rivista di Zootecnia 27:262-265, 1954.
1943 Bushnell, R.J. :
Linked color factors in Hampshire swine. Linkage of black and the basic white of the belt pattern Journal of Heredity 34:302-307, 1943.
1921 Durham, G.B. :
Inheritance of belting spotting in cattle and swine. American Naturalist 55:476-477, 1921.
1907 Spillman, W.J. :
Inheritance of the belt in Hampshire swine. Science 25:541-3, 1907. Pubmed reference: 17734524. DOI: 10.1126/science.25.640.541.

Edit History


  • Created by Frank Nicholas on 25 Nov 2012
  • Changed by Frank Nicholas on 25 Nov 2012