The molecular genetics of Bardet-Biedl syndrome

Authors
Sheffield, VC Nishimura, D Stone, EM
Citation
Vc. Sheffield et al., The molecular genetics of Bardet-Biedl syndrome, CUR OP GEN, 11(3), 2001, pp. 317-321
Citations number
47
Categorie Soggetti
Cell & Developmental Biology
Journal title
CURRENT OPINION IN GENETICS & DEVELOPMENT
ISSN journal
0959437X → ACNP
Volume
11
Issue
3
Year of publication
2001
Pages
317 - 321
Database
ISI
SICI code
0959-437X(200106)11:3<317:TMGOBS>2.0.ZU;2-N
Abstract
Bardet-Biedl syndrome (BBS) has been shown to be a genetically heterogeneou s disorder involving genes mapping to at least six known loci. One BBS gene (MKKS) has been identified and the form of the disorder caused by this gen e is allelic to McKusick-Kaufman syndrome. MKKS codes for a putative chaper onin, suggesting that other BBS genes may also code for components of chape rone complexes or be substrates of chaperone function.