Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

Nature Genetics

Volumn 31, Issue 4, 2002, Pages 435-438

  Mykytyn, Kirk ^a   Nishimura, Darryl Y ^a   Searby, Charles C ^a   Shastri, Mythreyi ^a   Yen, Hsan jan ^a   Beck, John S ^a   Braun, Terry ^b   Streb, Luan M ^c   Cornier, Alberto S ^d   Cox, Gerald F ^e   Fulton, Anne B ^e   Carmi, Rivka ^f   Lüleci, Güven ^g   Chandrasekharappa, Settara C ^h   Collins, Francis S ^h   Jacobson, Samuel G ⁱ   Heckenlively, John R ^j   Weleber, Richard G ^k   Stone, Edwin M ^c   Sheffield, Val C ^a  

^a UNIVERSITY OF IOWA   (United States)

^b Ponce School of Medicine ^*  (United States)

^c UNIVERSITY OF IOWA   (United States)

^d PONCE SCHOOL OF MEDICINE   (Puerto Rico)

^e BOSTON CHILDREN S HOSPITAL   (United States)

^f BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^g Arkdeniz University   (Turkey)

^h NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

ⁱ UNIVERSITY OF PENNSYLVANIA   (United States)

^j JULES STEIN EYE INSTITUTE   (United States)

^k OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONIN;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BARDET BIEDL SYNDROME; BBS1 GENE; CLINICAL FEATURE; CONTROLLED STUDY; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; HUMAN; INHERITANCE; MCKUSICK KAUFMAN SYNDROME; MISSENSE MUTATION; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; OBESITY; PHENOTYPE; PRIORITY JOURNAL; THERMOPLASMA ACIDOPHILUM;

BARDET-BIEDL SYNDROME; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HOMOZYGOTE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS;

THERMOPLASMA ACIDOPHILUM;

EID: 0036699538     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng935     Document Type: Article

References (22)

1. Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis, Univ. of Paris, Note: No. 479 (1920).
2. Biedl, A. Ein Geschwisterpaar mit adiposo-genitaler Dystrophie. Dtsch. Med. Wschr. 48, 1630 (1922).
3. Solis-Cohen, S. & Weiss, E. Dystrophia adiposogenitalis, with atypical retinitis pigmentosa and mental deficiency, possibly of cerebral origin: a report of four cases in one family. Trans. Assoc. Am. Phys. 39, 356-358 (1924).
4. Green, J.S. et al. The cardinal manifestations at Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. New Engl. J. Med. 321, 1002-1009 (1989).
5. Harnett, J.D. et al. The spectrum of renal disease in Laurence-Moon-Biedl syndrome. New Engl. J. Med. 319, 615-618 (1988).
6. Elbedour, K., Kucker, N., Zalstein, E., Barki, Y. & Carmi, R. Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients. Am. J. Med. Genet. 52, 164-169 (1994).
7. Leppert, M. et al. Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. Nature Genet. 7, 108-112 (1994).
8. Kwitek-Black, A.E. et al. Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nature Genet. 5, 392-396 (1993).
9. Sheffield, V.C. et al. Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum. Mol. Genet. 3, 1331-1335 (1994).
10. Carmi, R. et al. Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum. Mol. Genet. 4, 9-13 (1995).
11. Young, T.-L. et al. A fifth locus for 8ardet-Biedl syndrome maps to chromosome 2q31. Am. J. Hum. Genet. 64, 901-904 (1999).
12. Slavotinek, A.M. et al. Mutations in MKKS cause Bardet-Biedl syndrome. Nature Genet. 26, 15-16 (2000).
13. Katsanis, N. et al. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nature Genet. 26, 67-70 (2000).
14. Robinow, M. & Shaw, A. The McKusick-Kaufman syndrome: recessively inherited vaginal atresia, hydrometrocolpos, uterovaginal duplications, anorectal anomalies, postaxial polydactyly, and congenital heart disease. J. Pediatr. 94, 776-778(1979).
15. Stone, D.L. et al. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nature Genet. 25, 79-82 (2000).
16. Nishimura, D.Y. et al. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum. Mol. Genet. 10, 865-874 (2001).
17. Mykytyn, K. et al. Identification of the gene, that when mutated, causes the human obesity syndrome BBS4. Nature Genet. 28, 188-191 (2001).
18. Katsanis, N. et al. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 293, 2256-2259 (2001).
19. Katsanis, N. et al. Delineation of the critical interval of Bardet Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. Am. J. Hum. Genet. 65, 1672-1679 (1999).
20. Young, T-L. et al. A founder effect in the Newfoundland population reduces the Bardet-Biedl syndrome 1 (BBS1) interval to 1 cM. Am. J. Hum. Genet. 65, 1680-1687 (1999).
21. Bassam, B.J., Caetano-Anolles, G. & Gresshoff, RM. Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal. Biochem. 196, 80-83 (1991).
22. Altschul, S.F., Gish, W., Miller, W., Myers, E.W. & Lipman, D.J. Basic local alignment search tool. J. Mol. Biol. 215, 403-410 (1990).