Journal ArticleDOI
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
Kirk Mykytyn,Terry A. Braun,Terry A. Braun,Rivka Carmi,Neena B. Haider,Charles Searby,Mythreyi Shastri,Gretel Beck,Alan F. Wright,Alessandro Iannaccone,Khalil Elbedour,Ruth Riise,Alfonso Baldi,Annick Raas-Rothschild,Susan W. Gorman,David Duhl,Samuel G. Jacobson,Thomas L. Casavant,Edwin M. Stone,Val C. Sheffield +19 more
TLDR
The positional cloning and identification of mutations in BBS patients in a novel gene designated BBS4 is reported, which has no significant similarity to other chaperonins or known proteins.Abstract:
Bardet–Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism1,2,3,4. The disorder is also associated with diabetes mellitus, hypertension, and congenital heart disease4,5,6. Six distinct BBS loci map to 11q13 (BBS1), 16q21 (BBS2), 3p13–p12 (BBS3), 15q22.3–q23 (BBS4), 2q31 (BBS5), and 20p12 (BBS6)7,8,9,10,11,12,13. Although BBS is rare in the general population (<1/100,000), there is considerable interest in identifying the genes causing BBS because components of the phenotype, such as obesity and diabetes, are common. We and others have demonstrated that BBS6 is caused by mutations in the gene MKKS (refs. 12,13), mutation of which also causes McKusick–Kaufman syndrome (hydrometrocolpos, post-axial polydactyly, and congenital heart defects)14,15. MKKS has sequence homology to the alpha subunit of a prokaryotic chaperonin in the thermosome Thermoplasma acidophilum15. We recently identified a novel gene that causes BBS216. The BBS2 protein has no significant similarity to other chaperonins or known proteins. Here we report the positional cloning and identification of mutations in BBS patients in a novel gene designated BBS4.read more
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The primary cilium: a signalling centre during vertebrate development
TL;DR: The connections between cilia and developmental signalling have begun to clarify the basis of human diseases associated with ciliary dysfunction, and the cilium represents a nexus for signalling pathways during development.
Journal ArticleDOI
The human obesity gene map: the 2005 update.
Tuomo Rankinen,Aamir Zuberi,Yvon C. Chagnon,S. John Weisnagel,George Argyropoulos,Brandon Walts,Louis Pérusse,Claude Bouchard +7 more
TL;DR: The 12th update of the human obesity gene map is presented, which incorporates published results up to the end of October 2005, and shows putative loci on all chromosomes except Y.
Journal ArticleDOI
The Ciliopathies: An Emerging Class of Human Genetic Disorders
TL;DR: The molecular data linking seemingly unrelated clinical entities are beginning to highlight a common theme, where defects in ciliary structure and function can lead to a predictable phenotypic pattern that has potentially predictive and therapeutic value.
Journal ArticleDOI
The human obesity gene map: the 2004 update.
Louis Pérusse,Tuomo Rankinen,Aamir Zuberi,Yvon C. Chagnon,S. John Weisnagel,George Argyropoulos,Brandon Walts,Eric E. Snyder,Claude Bouchard +8 more
TL;DR: This paper presents the 12th update of the human obesity gene map, which incorporates published results up to the end of October 2005, and shows putative loci on all chromosomes except Y.
Journal ArticleDOI
Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene
Jin Billy Li,Jantje M. Gerdes,Courtney J. Haycraft,Yanli Fan,Tanya M. Teslovich,Helen May-Simera,Haitao Li,Oliver E. Blacque,Linya Li,Carmen C. Leitch,Richard A. Lewis,Jane Green,Patrick S. Parfrey,Michel R. Leroux,William S. Davidson,Philip L. Beales,Lisa M. Guay-Woodford,Bradley K. Yoder,Gary D. Stormo,Nicholas Katsanis,Susan K. Dutcher +20 more
TL;DR: BBS5, a novel gene for Bardet-Biedl syndrome is identified and it is shown that this novel protein localizes to basal bodies in mouse and C. elegans, is under the regulatory control of daf-19, and is necessary for the generation of both cilia and flagella.
References
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TL;DR: A new approach to rapid sequence comparison, basic local alignment search tool (BLAST), directly approximates alignments that optimize a measure of local similarity, the maximal segment pair (MSP) score.
Journal ArticleDOI
Fast and sensitive silver staining of DNA in polyacrylamide gels
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Journal ArticleDOI
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Jane Green,Patrick S. Parfrey,John D. Harnett,Nadir R. Farid,Benvon C. Cramer,Gordon J. Johnson,Olga Heath,P J McManamon,Elizabeth O'Leary,William Pryse-Phillips +9 more
TL;DR: The characteristic features of Bardet-Biedl syndrome are severe retinal dystrophy, dysmorphic extremities, obesity, renal abnormalities, and (in male patients only) hypogenitalism.
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Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene
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