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Editor's Notes from literature on
Editor's Notes Bardet-Biedl Syndrome 2 Gene
(BBS2)

Recent update from: 14.03.2003

BBS2 Notes

  • Shares modest similarities with BBS2L2 over a range of 192 AA
  • No significant similarity to chaperonins
  • BB2, BBS2L1, BBS2L2, and BBS4 may be subtrates of MKKS
  • Initiated the identification of BBS7 (BBS2L1) by homology comparisons
  • Coiled-coil domain between AA 332 and 365
Species: Homo sapiens
See also:
Chromosomal localisation in man:

in mouse:
Gene Data

:
Exons:
Primers:
Protein Data
Amino acids: 721 AA
Molecular weight on SDS-PAGE:

calculated:
Reference: (1)
BBS2 Notes

  • Shares modest similarities (23% identity, 40% similarity) with BBS2L2 over a range of 192 AA (49 - 211)
Species: Homo sapiens
See also:
Chromosomal localisation in man:

in mouse:
Gene Data

:
Exons:
Primers:
Protein Data
Amino acids:
Molecular weight on SDS-PAGE:

calculated:
Reference: (2)
BBS2 Notes

  • Broad expression pattern
  • In tracheal tissue minor nothern blot bnad present
  • Gene structure
  • 89% identity, 94% similarity to rat
  • 90% identity, 95% similarity to mouse
  • 74% identity, 84% similarity to zebrafish
  • High level of sequence conservation in exon 2
  • No significant functional similarity to known proteins
Species: Homo sapiens
See also:
Chromosomal localisation in man: 16q21

in mouse:
Gene Data
mRNA: ~3.0 kb
Exons: 17
Primers:
Protein Data
Amino acids: 721 AA
Molecular weight on SDS-PAGE:

calculated:
Reference: (3)
References:
  1. Badano,J.L., Ansley,S.J., Leitch,C.C., Lewis,R.A., Lupski,J.R., and Katsanis,N. Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2. 2003; Am.J.Hum.Genet. 72: 650-658.
    Link to PubMed
    Goto Top

  2. Mykytyn,K., Nishimura,D.Y., Searby,C.C., Shastri,M., Yen,H.J., Beck,J.S., Braun,T., Streb,L.M., Cornier,A.S., Cox,G.F., Fulton,A.B., Carmi,R., Luleci,G., Chandrasekharappa,S.C., Collins,F.S., Jacobson,S.G., Heckenlively,J.R., Weleber,R.G., Stone,E.M., and Sheffield,V.C. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 2002; Nat.Genet. 31: 435-438.
    Link to PubMed
    Goto Top

  3. Nishimura,D.Y., Searby,C.C., Carmi,R., Elbedour,K., Maldergem,L.V., Fulton,A.B., Lam,B.L., Powell,B.R., Swiderski,R.E., Bugge,K.E., Haider,N.B., Kwitek-Black,A.E., Ying,L., Duhl,D.M., Gorman,S.W., Heon,E., Iannaccone,A., Bonneau,D., Biesecker,L.G., Jacobson,S.G., Stone,E.M., and Sheffield,V.C. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). 2001; Hum.Mol.Genet. 10: 865-874.
    Link to PubMed
    Goto Top
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Contact the editor 		This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz