A 19-Mb de novo deletion on BTA 22 including MITF leads to microphthalmia and the absence of pigmentation in a Holstein calf.

Wiedemar, Natalie; Drögemüller, Cord (2014). A 19-Mb de novo deletion on BTA 22 including MITF leads to microphthalmia and the absence of pigmentation in a Holstein calf. Animal genetics, 45(6), pp. 868-870. Blackwell 10.1111/age.12213

[img] Text
age12213.pdf - Published Version
Restricted to registered users only
Available under License Publisher holds Copyright.

Download (206kB) | Request a copy

Mutations in MITF lead to a large variety of phenotypes in human, mice and other species. They mostly affect pigmentation and hearing, whereas in mice, they may additionally cause microphthalmia and osteopetrosis. In this study, we report a single case of a Holstein calf with lack of pigmentation and microphthalmia born to healthy parents. Mendelian analysis of high-density SNP genotypes reveals a large number of parentage errors showing missing paternal alleles in the offspring, indicating a deletion encompassing 19 Mb on BTA 22. The genomic deletion affects the paternal allele and includes MITF and 131 other annotated genes. As the calf shows only one copy of the BTA 22 segment, the observed phenotype is probably caused by haploinsufficiency of the genes in that genomic region. Both the observed lack of skin pigmentation and reduced eye size can most likely be explained by a lack of MITF function.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Research Foci > DermFocus
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)

UniBE Contributor:

Wiedemar, Natalie and Drögemüller, Cord

Subjects:

500 Science > 590 Animals (Zoology)
600 Technology > 610 Medicine & health
600 Technology > 630 Agriculture

ISSN:

0268-9146

Publisher:

Blackwell

Language:

English

Submitter:

Tosso Leeb

Date Deposited:

03 Feb 2015 16:13

Last Modified:

12 Oct 2015 15:21

Publisher DOI:

10.1111/age.12213

PubMed ID:

25199536

Uncontrolled Keywords:

cattle, coat color

BORIS DOI:

10.7892/boris.62470

URI:

https://boris.unibe.ch/id/eprint/62470

Actions (login required)

Edit item Edit item
Provide Feedback