SBDS

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Shwachman-Bodian-Diamond syndrome
Identifiers
Symbol(s) SBDS; SDS; CGI-97; FLJ10917; SWDS
External IDs OMIM: 607444 MGI: 1913961 HomoloGene: 6438
Orthologs
Human Mouse
Entrez 51119 66711
Ensembl ENSG00000126524 ENSMUSG00000025337
Uniprot Q9Y3A5 P70122
Refseq NM_016038 (mRNA)
NP_057122 (protein)		 NM_023248 (mRNA)
NP_075737 (protein)
Location Chr 7: 66.09 - 66.1 Mb Chr 5: 130.53 - 130.54 Mb
Pubmed search [1] [2]

Shwachman-Bodian-Diamond syndrome, also known as SBDS, is a human gene.[1]

This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located.[1]

[edit] References

  1. ^ a b Entrez Gene: SBDS Shwachman-Bodian-Diamond syndrome.

[edit] Further reading

  • Lai CH, Chou CY, Ch'ang LY, et al. (2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.". Genome Res. 10 (5): 703–13. PMID 10810093. 
  • Popovic M, Goobie S, Morrison J, et al. (2002). "Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene.". Eur. J. Hum. Genet. 10 (4): 250–8. doi:10.1038/sj.ejhg.5200798. PMID 12032733. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Boocock GR, Morrison JA, Popovic M, et al. (2003). "Mutations in SBDS are associated with Shwachman-Diamond syndrome.". Nat. Genet. 33 (1): 97–101. doi:10.1038/ng1062. PMID 12496757. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
  • Nakashima E, Mabuchi A, Makita Y, et al. (2004). "Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.". Hum. Genet. 114 (4): 345–8. doi:10.1007/s00439-004-1081-2. PMID 14749921. 
  • Woloszynek JR, Rothbaum RJ, Rawls AS, et al. (2004). "Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.". Blood 104 (12): 3588–90. doi:10.1182/blood-2004-04-1516. PMID 15284109. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Andersen JS, Lam YW, Leung AK, et al. (2005). "Nucleolar proteome dynamics.". Nature 433 (7021): 77–83. doi:10.1038/nature03207. PMID 15635413. 
  • Kuijpers TW, Alders M, Tool AT, et al. (2005). "Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship.". Blood 106 (1): 356–61. doi:10.1182/blood-2004-11-4371. PMID 15769891. 
  • Austin KM, Leary RJ, Shimamura A (2005). "The Shwachman-Diamond SBDS protein localizes to the nucleolus.". Blood 106 (4): 1253–8. doi:10.1182/blood-2005-02-0807. PMID 15860664. 
  • Kawakami T, Mitsui T, Kanai M, et al. (2005). "Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations.". Tohoku J. Exp. Med. 206 (3): 253–9. PMID 15942154. 
  • Boocock GR, Marit MR, Rommens JM (2006). "Phylogeny, sequence conservation, and functional complementation of the SBDS protein family.". Genomics 87 (6): 758–71. doi:10.1016/j.ygeno.2006.01.010. PMID 16529906. 
  • Erdos M, Alapi K, Balogh I, et al. (2007). "Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene.". Exp. Hematol. 34 (11): 1517–21. doi:10.1016/j.exphem.2006.06.009. PMID 17046571. 
  • Nishimura G, Nakashima E, Hirose Y, et al. (2007). "The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.". J. Med. Genet. 44 (4): e73. doi:10.1136/jmg.2006.043869. PMID 17400792. 
  • Calado RT, Graf SA, Wilkerson KL, et al. (2007). "Mutations in the SBDS gene in acquired aplastic anemia.". Blood 110 (4): 1141–6. doi:10.1182/blood-2007-03-080044. PMID 17478638. 
  • Wang Y, Yagasaki H, Hama A, et al. (2007). "Mutation of SBDS and SH2D1A is not associated with aplastic anemia in Japanese children.". Haematologica 92 (11): 1573. doi:10.3324/haematol.11568. PMID 18024409. 
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