BBS9 explained

Bardet–Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene.^{[1] [2]}

The expression of the Bardet–Biedl syndrome 9 protein is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones.^[3]

Mutations in this gene are associated with the Bardet–Biedl syndrome.^[2]

Further reading

• Scherer SW, Cheung J, MacDonald JR . Human chromosome 7: DNA sequence and biology. . Science . 300 . 5620 . 767–72 . 2003 . 12690205 . 2882961 . 10.1126/science.1083423. 2003Sci...300..767S . etal.
• Kang H, Lee SK, Kim MH . Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure . Hum. Reprod. . 23 . 6 . 1457–65 . 2008 . 18349106 . 10.1093/humrep/den086. etal. free .
• Nachury MV, Loktev AV, Zhang Q . A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. . Cell . 129 . 6 . 1201–13 . 2007 . 17574030 . 10.1016/j.cell.2007.03.053. 11917072 . etal. free .
• Vernon EG, Malik K, Reynolds P . The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour. . Oncogene . 22 . 9 . 1371–80 . 2003 . 12618763 . 10.1038/sj.onc.1206332. etal. free .
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928. etal.
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285. etal. free .
• Strausberg RL, Feingold EA, Grouse LH . 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 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241. 2002PNAS...9916899M . etal. free .

External links

• GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl Syndrome

Notes and References

1. Adams AE, Rosenblatt M, Suva LJ . Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells . Bone . 24 . 4 . 305–13 . April 1999 . 10221542 . 10.1016/S8756-3282(98)00188-4 .
2. Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM, Sheffield VC . Comparative genomics and gene expression analysis identifies BBS9, a new Bardet–Biedl syndrome gene . Am. J. Hum. Genet. . 77 . 6 . 1021–33 . December 2005 . 16380913 . 1285160 . 10.1086/498323 .
3. Web site: Entrez Gene: Bardet–Biedl syndrome 9 .