Ignet

Gene Information

Gene symbol: BBS1

Gene name: Bardet-Biedl syndrome 1

HGNC ID: 966

Synonyms: FLJ23590

Related Genes

#	Gene Symbol	Number of hits
1	ARL6	1 hits
2	BBS2	1 hits
3	BBS4	1 hits
4	BBS5	1 hits
5	BBS7	1 hits
6	HSPD1	1 hits
7	IDDM4	1 hits
8	INS	1 hits
9	LEPR	1 hits
10	MKKS	1 hits
11	PGL2	1 hits
12	POLD4	1 hits
13	TTC8	1 hits

Related Sentences

#	PMID	Sentence
1	9405936	The map encompasses all the candidate loci of Bardet-Biedle syndrome type I (BBS1) and spinocerebellar ataxia type 5 (SCA5), one-third of the distal region for hereditary paraganglioma 2 (PGL2), and one-third of the central region for insulin-dependent diabetes mellitus 4 (IDDM4).
2	11381270	Six distinct BBS loci map to 11q13 (BBS1), 16q21 (BBS2), 3p13-p12 (BBS3), 15q22.3-q23 (BBS4), 2q31 (BBS5), and 20p12 (BBS6).
3	11381270	MKKS has sequence homology to the alpha subunit of a prokaryotic chaperonin in the thermosome Thermoplasma acidophilum.
4	11381270	Here we report the positional cloning and identification of mutations in BBS patients in a novel gene designated BBS4.
5	12118255	What was once thought to be a homogeneous autosomal recessive disorder is now known to map to at least six loci: 11q13 (BBS1), 16q21 (BBS2), 3p13 p12 (BBS3), 15q22.3 q23 (BBS4), 2q31 (BBS5) and 20p12 (BBS6).
6	12118255	Cases of BBS mapping ro BBS6 are caused by mutations in MKKS; mutations in this gene also cause McKusick-Kaufman syndrome (hydrometrocolpos, post-axial polydactyly and congenital heart defects).
7	12118255	In addition, we recently used positional cloning to identify the genes underlying BBS2 (ref. 16) and BBS4 (ref. 17).
8	12118255	The BBS6 protein has similarity to a Thermoplasma acidophilum chaperonin, whereas BBS2 and BBS4 have no significant similarity to chaperonins.
9	12118255	Here we report the identification of the gene BBS1 and show that a missense mutation of this gene is a frequent cause of BBS.
10	12118255	What was once thought to be a homogeneous autosomal recessive disorder is now known to map to at least six loci: 11q13 (BBS1), 16q21 (BBS2), 3p13 p12 (BBS3), 15q22.3 q23 (BBS4), 2q31 (BBS5) and 20p12 (BBS6).
11	12118255	Cases of BBS mapping ro BBS6 are caused by mutations in MKKS; mutations in this gene also cause McKusick-Kaufman syndrome (hydrometrocolpos, post-axial polydactyly and congenital heart defects).
12	12118255	In addition, we recently used positional cloning to identify the genes underlying BBS2 (ref. 16) and BBS4 (ref. 17).
13	12118255	The BBS6 protein has similarity to a Thermoplasma acidophilum chaperonin, whereas BBS2 and BBS4 have no significant similarity to chaperonins.
14	12118255	Here we report the identification of the gene BBS1 and show that a missense mutation of this gene is a frequent cause of BBS.
15	12524598	BBS is known to map to at least six loci: 11q13 (BBS1), 16q21 (BBS2), 3p13-p12 (BBS3), 15q22.3-q23 (BBS4), 2q31 (BBS5), and 20p12 (BBS6).
16	12524598	Although these loci were all mapped on the basis of an autosomal recessive mode of inheritance, it has recently been suggested-on the basis of mutation analysis of the identified BBS2, BBS4, and BBS6 genes-that BBS displays a complex mode of inheritance in which, in some families, three mutations at two loci are necessary to manifest the disease phenotype.
17	12524598	In the present study we evaluate the involvement of the BBS1 gene in a cohort of 129 probands with BBS and report 10 novel BBS1 mutations.
18	12524598	BBS is known to map to at least six loci: 11q13 (BBS1), 16q21 (BBS2), 3p13-p12 (BBS3), 15q22.3-q23 (BBS4), 2q31 (BBS5), and 20p12 (BBS6).
19	12524598	Although these loci were all mapped on the basis of an autosomal recessive mode of inheritance, it has recently been suggested-on the basis of mutation analysis of the identified BBS2, BBS4, and BBS6 genes-that BBS displays a complex mode of inheritance in which, in some families, three mutations at two loci are necessary to manifest the disease phenotype.
20	12524598	In the present study we evaluate the involvement of the BBS1 gene in a cohort of 129 probands with BBS and report 10 novel BBS1 mutations.
21	15155861	The BBS6 gene is predicted to code for a protein with sequence similarity to the chaperonin family of proteins.
22	15155861	The predicted BBS1, BBS2, BBS4, BBS7, and BBS8 gene products do not seem to be molecular chaperones, on the basis of a lack of sequence similarity to the chaperonin family of proteins.
23	15155861	The identification of BBS8 suggests a possible role in cilia function for BBS gene products.
24	15666242	A mutation of the BBS1 gene on chromosome 11q13 is observed in 30%-40% of BBS cases.
25	15666242	In six cases, we identified a recessive mutation in a BBS gene (three in BBS2, two in BBS4, and one in BBS6).
26	15666242	No BBS1, BBS3, BBS5, BBS7, or BBS8 mutations were identified in our series.
27	15666242	These results suggest that the antenatal presentation of BBS may mimic Meckel syndrome.
28	15666242	A mutation of the BBS1 gene on chromosome 11q13 is observed in 30%-40% of BBS cases.
29	15666242	In six cases, we identified a recessive mutation in a BBS gene (three in BBS2, two in BBS4, and one in BBS6).
30	15666242	No BBS1, BBS3, BBS5, BBS7, or BBS8 mutations were identified in our series.
31	15666242	These results suggest that the antenatal presentation of BBS may mimic Meckel syndrome.
32	17003356	In this study, we performed mutation analysis of the coding and conserved regions of BBS1, BBS2, BBS4, and BBS6 in 48 French Caucasian individuals.
33	17003356	Variants in BBS2, BBS4, and BBS6 showed evidence of association with common obesity in an age-dependent manner, the BBS2 single nucleotide polymorphism (SNP) being associated with common adult obesity (P = 0.0005) and the BBS4 and BBS6 SNPs being associated with common early-onset childhood obesity (P = 0.0003) and common adult morbid obesity (0.0003 < P < 0.007).
34	17003356	The BBS6 variants also showed nominal evidence of association with quantitative components of the metabolic syndrome (e.g., dyslipidemia, hyperglycemia), a complication previously described in BBS patients.
35	19150989	Here, we show that BBS proteins are required for leptin receptor (LepR) signaling in the hypothalamus.
36	19150989	We found that Bbs2(-/-), Bbs4(-/-) and Bbs6(-/-) mice are resistant to the action of leptin to reduce body weight and food intake regardless of serum leptin levels and obesity.
37	19150989	In addition, activation of hypothalamic STAT3 by leptin is significantly decreased in Bbs2(-/-), Bbs4(-/-) and Bbs6(-/-) mice.
38	19150989	In contrast, downstream melanocortin receptor signaling is unaffected, indicating that LepR signaling is specifically impaired in Bbs2(-/-), Bbs4(-/-) and Bbs6(-/-) mice.
39	19150989	Impaired LepR signaling in BBS mice was associated with decreased Pomc gene expression.
40	19150989	Furthermore, we found that BBS1 protein physically interacts with the LepR and that loss of BBS proteins perturbs LepR trafficking.
41	19150989	Our data indicate that BBS proteins mediate LepR trafficking and that impaired LepR signaling underlies energy imbalance in BBS.
42	22500027	To date, 16 BBS genes have been reported, seven of which (BBS1, 2, 4, 5, 7, 8, and 9) code for proteins that form a complex known as the BBSome.
43	22500027	Three additional BBS genes (BBS6, BBS10, and BBS12) have homology to type II chaperonins and interact with CCT/TRiC proteins and BBS7 to form a complex termed the BBS-chaperonin complex.
44	22500027	By characterizing BBSome assembly intermediates, we show that the BBS-chaperonin complex plays a role in BBS7 stability.
45	22500027	BBS7 interacts with BBS2 and becomes part of a BBS7-BBS2-BBS9 assembly intermediate referred to as the BBSome core complex because it forms the core of the BBSome.
46	22500027	BBS1, BBS5, BBS8, and finally BBS4 are added to the BBSome core to form the complete BBSome.
47	22500027	To date, 16 BBS genes have been reported, seven of which (BBS1, 2, 4, 5, 7, 8, and 9) code for proteins that form a complex known as the BBSome.
48	22500027	Three additional BBS genes (BBS6, BBS10, and BBS12) have homology to type II chaperonins and interact with CCT/TRiC proteins and BBS7 to form a complex termed the BBS-chaperonin complex.
49	22500027	By characterizing BBSome assembly intermediates, we show that the BBS-chaperonin complex plays a role in BBS7 stability.
50	22500027	BBS7 interacts with BBS2 and becomes part of a BBS7-BBS2-BBS9 assembly intermediate referred to as the BBSome core complex because it forms the core of the BBSome.
51	22500027	BBS1, BBS5, BBS8, and finally BBS4 are added to the BBSome core to form the complete BBSome.