Quick Search:

uzh logo
Browse by:
bullet
bullet
bullet
bullet

Zurich Open Repository and Archive 

Krebs, Stefan; Medugorac, Ivica; Russ, Ingolf; Ossent, Pete; Bleul, Ulrich; Schmahl, Wolfgang; Förster, Martin (2006). Fine-mapping and candidate gene analysis of bovine spinal muscular atrophy. Mammalian Genome, 17(1):67-76.

Full text not available from this repository.

Abstract

Bovine spinal muscular atrophy (SMA), an autosomal recessive neurodegenerative disease, has been mapped at moderate resolution to the distal part of Chromosome 24. In this article we confirm this location and fine-map the SMA locus to an interval of approximately 0.8 cM at the very distal end of BTA24. Despite remarkable similarity to human SMA, the causative gene SMN can be excluded in bovine SMA. However, the interval where the disease now has been mapped contains BCL2, like SMN an antiapoptotic factor, and shown to bind to SMN. Moreover, knockout mice lacking the BCL2 gene show rapid motor neuron degeneration with early postnatal onset, as observed in bovine SMA. A comparative cattle/human map of the distal end of BTA24, based on the emerging bovine genome sequencing data, shows conserved synteny to HSA18 with hints of a segmental duplication and pericentric inversion just after the last available bovine marker DIK4971. This synteny lets us conclude that SMA is in immediate vicinity of the telomere. Candidate gene analysis of BCL2, however, excludes most of this gene, except its promoter region, and draws attention to the neighboring gene VPS4B, part of the endosomal protein-sorting machinery ESCRT-III which is involved in several neurodegenerative diseases.

Item Type:Journal Article, refereed, original work
Communities & Collections:05 Vetsuisse Faculty > Veterinary Clinic > Department of Farm Animals > Clinic for Reproductive Medicine
DDC:570 Life sciences; biology
630 Agriculture
Language:English
Date:2006
Deposited On:09 Aug 2012 15:01
Last Modified:27 Nov 2013 23:33
Publisher:Springer
ISSN:0938-8990
Publisher DOI:10.1007/s00335-005-0102-3
PubMed ID:16416092
Citations:Web of Science®. Times Cited: 4
Google Scholar™

Users (please log in): suggest update or correction for this item

Repository Staff Only: item control page