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Titolo:
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
Autore:
Mykytyn, K; Braun, T; Carmi, R; Haider, NB; Searby, CC; Shastri, M; Beck, G; Wright, AF; Iannaccone, A; Elbedour, K; Riise, R; Baldi, A; Raas-Rothschild, A; Gorman, SW; Duhl, DM; Jacobson, SG; Casavant, T; Stone, EM; Sheffield, VC;
Indirizzi:
Univ Iowa, Dept Pediat, Div Med Genet, Iowa City, IA 52242 USA Univ Iowa Iowa City IA USA 52242 , Div Med Genet, Iowa City, IA 52242 USA Univ Iowa, Howard Hughes Med Inst, Iowa City, IA 52242 USA Univ Iowa IowaCity IA USA 52242 Hughes Med Inst, Iowa City, IA 52242 USA Ben Gurion Univ Negev, Soroka Med Ctr, Inst Genet, IL-84105 Beer Sheva, Israel Ben Gurion Univ Negev Beer Sheva Israel IL-84105 4105 Beer Sheva, Israel Western Gen Hosp, MRC, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland Western Gen Hosp Edinburgh Midlothian Scotland EH4 2XU dlothian, Scotland Univ Tennessee, Hlth Sci Ctr, Dept Ophthalmol, Memphis, TN 38103 USA Univ Tennessee Memphis TN USA 38103 ept Ophthalmol, Memphis, TN 38103 USA Cent Hosp Hedmark, Dept Ophthalmol, Hamar, Norway Cent Hosp Hedmark Hamar Norway Hedmark, Dept Ophthalmol, Hamar, Norway Ist Regina Elena, I-00161 Rome, Italy Ist Regina Elena Rome Italy I-00161 st Regina Elena, I-00161 Rome, Italy Hadassah Univ Hosp, Dept Human Genet, IL-91120 Jerusalem, Israel Hadassah Univ Hosp Jerusalem Israel IL-91120 IL-91120 Jerusalem, Israel Chiron Corp, Emeryville, CA 94608 USA Chiron Corp Emeryville CA USA 94608Chiron Corp, Emeryville, CA 94608 USA Univ Penn, Scheie Eye Inst, Philadelphia, PA 19104 USA Univ Penn Philadelphia PA USA 19104 Eye Inst, Philadelphia, PA 19104 USA Univ Iowa, Dept Elect Engn, Iowa City, IA 52242 USA Univ Iowa Iowa City IA USA 52242 Dept Elect Engn, Iowa City, IA 52242 USA Univ Iowa, Dept Ophthalmol, Iowa City, IA 52242 USA Univ Iowa Iowa City IA USA 52242 Dept Ophthalmol, Iowa City, IA 52242 USA
Titolo Testata:
NATURE GENETICS
fascicolo: 2, volume: 28, anno: 2001,
pagine: 188 - 191
SICI:
1061-4036(200106)28:2<188:IOTGTW>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
BARDET-BIEDL-SYNDROME; TETRATRICOPEPTIDE REPEAT; SYNDROME LOCUS; PROTEIN; DNA; MUTATIONS; LINKAGE; DISEASE;
Tipo documento:
Letter
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
27
Recensione:
Indirizzi per estratti:
Indirizzo: Sheffield, VC Univ Iowa, Dept Pediat, Div Med Genet, Iowa City, IA 52242 USA Univ Iowa Iowa City IA USA 52242 t, Iowa City, IA 52242 USA
Citazione:
K. Mykytyn et al., "Identification of the gene that, when mutated, causes the human obesity syndrome BBS4", NAT GENET, 28(2), 2001, pp. 188-191

Abstract

Bardet-Biedl syndrome (BBS. MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy. polydactyly, renal malformations, mental retardation, and hypogenitalism(1-4). The disorder is also associated with diabetes mellitus, hypertension, and congenital heart disease(4-6). Six distinct BBS loci map to 11q13 (BBS1), 16q21 (BBS2). 3p13-p12 (BBS3). 15q22,3-q23 (BBS4), 2q31 (BBS5). and 20p12 (BBS6)(7-13). 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 othershave 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). MKKShas sequence homology to the alpha subunit of a prokaryotic chaperonin in the thermosome Thermoplasma acidophilum(15). We recently identified a novelgene that causes BBS2(16). 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.

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Documento generato il 29/03/20 alle ore 08:22:43