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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

BBS10  -  Bardet-Biedl syndrome 10

Homo sapiens

Synonyms: Bardet-Biedl syndrome 10 protein, C12orf58, FLJ23560
 
 
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High impact information on BBS10

  • BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus [1].
  • FLJ35630 was selected as a candidate gene, because it was predicted to encode a protein with similarity to members of the type II chaperonin superfamily, which includes BBS6 and BBS10 [2].
  • Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10 [3].
  • Mutation analysis of candidate genes within the target interval, including the BBS10 gene, revealed a homozygous frameshift mutation in FLJ23560 and mutations were also detected in four smaller consanguineous families with regions of autozygosity at 12q21 [3].
 

Biological context of BBS10

  • We found BBS10 to be mutated in about 20% of an unselected cohort of families of various ethnic origins, including some families with mutations in other BBS genes, consistent with oligogenic inheritance [1].
  • We mapped a BBS locus to a 10.1 Mb region at 12q15-q21.2 in a large Omani BBS family (peak lod score 8.3 at theta=0.0 for marker D12S1722) that contained the recently described BBS10 locus [3].

References

  1. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Stoetzel, C., Laurier, V., Davis, E.E., Muller, J., Rix, S., Badano, J.L., Leitch, C.C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., Sarda, P., Hamel, C., Lacombe, D., Holder, M., Odent, S., Holder, S., Brooks, A.S., Elcioglu, N.H., Da Silva, E., Rossillion, B., Sigaudy, S., de Ravel, T.J., Alan Lewis, R., Leheup, B., Verloes, A., Amati-Bonneau, P., Mégarbané, A., Poch, O., Bonneau, D., Beales, P.L., Mandel, J.L., Katsanis, N., Dollfus, H. Nat. Genet. (2006) [Pubmed]
  2. Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome. Stoetzel, C., Muller, J., Laurier, V., Davis, E.E., Zaghloul, N.A., Vicaire, S., Jacquelin, C., Plewniak, F., Leitch, C.C., Sarda, P., Hamel, C., de Ravel, T.J., Lewis, R.A., Friederich, E., Thibault, C., Danse, J.M., Verloes, A., Bonneau, D., Katsanis, N., Poch, O., Mandel, J.L., Dollfus, H. Am. J. Hum. Genet. (2007) [Pubmed]
  3. Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10. White, D.R., Ganesh, A., Nishimura, D., Rattenberry, E., Ahmed, S., Smith, U.M., Pasha, S., Raeburn, S., Trembath, R.C., Rajab, A., Macdonald, F., Banin, E., Stone, E.M., Johnson, C.A., Sheffield, V.C., Maher, E.R. Eur. J. Hum. Genet. (2007) [Pubmed]
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