A deletion spanning the promoter and first exon of the hair cycle-specific ASIP transcript isoform in black and tan rabbits.

Letko, A.; Ammann, B.; Jagannathan, V.; Henkel, J.; Leuthard, F.; Schelling, C.; Carneiro, M.; Drögemüller, C.; Leeb, T. (2020). A deletion spanning the promoter and first exon of the hair cycle-specific ASIP transcript isoform in black and tan rabbits. Animal genetics, 51(1), pp. 137-140. Wiley 10.1111/age.12881

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Black and tan animals have tan-coloured ventral body surfaces separated by sharp boundaries from black-coloured dorsal body surfaces. In the at mouse mutant, a retroviral 6 kb insertion located in the hair cycle-specific promoter of the murine Asip gene encoding agouti signalling protein causes the black and tan phenotype. In rabbits, three ASIP alleles are thought to exist, including an at allele causing a black and tan coat colour that closely resembles the mouse black and tan phenotype. The goal of our study was to identify the functional genetic variant causing the rabbit at allele. We performed a WGS-based comparative analysis of the ASIP gene in one black and tan and three wt agouti-coloured rabbits. The analysis identified 75 at -associated variants including an 11 kb deletion. The deletion is located in the region of the hair cycle-specific ASIP promoter and thus in a region homologous to the site of the retroviral insertion causing the at allele in mice. We observed perfect association of the genotypes at this deletion with the coat colour phenotype in 49 rabbits. The comparative analysis and the previous knowledge about the regulation of ASIP expression suggest that the 11 kb deletion is the most likely causative variant for the black and tan phenotype in rabbits.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)
05 Veterinary Medicine > Research Foci > DermFocus

Graduate School:

Graduate School for Cellular and Biomedical Sciences (GCB)

UniBE Contributor:

Letko, Anna; Jagannathan, Vidya; Henkel, Jan Wolfgang; Leuthard, Fabienne Nadja; Drögemüller, Cord and Leeb, Tosso

Subjects:

500 Science > 590 Animals (Zoology)
600 Technology > 630 Agriculture
500 Science > 570 Life sciences; biology
600 Technology > 610 Medicine & health

ISSN:

1365-2052

Publisher:

Wiley

Language:

English

Submitter:

Tosso Leeb

Date Deposited:

21 Nov 2019 11:05

Last Modified:

28 Jul 2020 16:37

Publisher DOI:

10.1111/age.12881

PubMed ID:

31729778

Uncontrolled Keywords:

Oryctolagus cuniculus coat colour non-coding pigmentation promoter structural variant whole-genome sequence

BORIS DOI:

10.7892/boris.135288

URI:

https://boris.unibe.ch/id/eprint/135288

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