TTC8 explained

Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a protein that in humans is encoded by the TTC8 gene.^[1]

TTC8 is associated with gamma-tubulin, BBS4, and PCM1 in the centrosome.^[1] PCM1 in turn is involved in centriolar replication during ciliogenesis.^[2]

TTC8 is located in the cilia of spermatids, retina, and bronchial epithelium cells.^[1]

Clinical significance

Mutations in the TTC8 gene is one of 14 genes^[3] identified as causal for Bardet–Biedl syndrome.^{[1] [4]}

Further reading

• Nachury MV, Loktev AV, Zhang Q, et al . 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 . free .
• Chung WK, Patki A, Matsuoka N, et al . Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. . Hum. Hered. . 67 . 3 . 193–205 . 2009 . 19077438 . 2715950 . 10.1159/000181158 .
• Gerhard DS, Wagner L, Feingold EA, et al . 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 . 528928 . 10.1101/gr.2596504 .
• Ota T, Suzuki Y, Nishikawa T, et al . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Riazuddin SA, Iqbal M, Wang Y, et al . A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. . Am. J. Hum. Genet. . 86 . 5 . 805–12 . 2010 . 20451172 . 2869005 . 10.1016/j.ajhg.2010.04.001 .
• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 139241 . 10.1073/pnas.242603899 . 2002PNAS...9916899M . free .
• Bin J, Madhavan J, Ferrini W, et al . BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. . Hum. Mutat. . 30 . 7 . E737–46 . 2009 . 19402160 . 10.1002/humu.21040 . 11446097 .

External links

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

Notes and References

1. Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N . Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome . Nature . 425 . 6958 . 628–33 . October 2003 . 14520415 . 10.1038/nature02030 . 2003Natur.425..628A . 4310157 .
2. Kubo A, Sasaki H, Yuba-Kubo A, Tsukita S, Shiina N . Centriolar satellites: molecular characterization, ATP-dependent movement toward centrioles and possible involvement in ciliogenesis . J. Cell Biol. . 147 . 5 . 969–80 . November 1999 . 10579718 . 2169353 . 10.1083/jcb.147.5.969 .
3. Web site: Hamosh. Ada . OMIM entry #209900 Bardet-Biedl Syndrome; BBS. 2012-11-02 . Online Mendelian Inheritance in Man . McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine . 2013-09-04.
4. Stoetzel C, Laurier V, Faivre L, Mégarbané A, Perrin-Schmitt F, Verloes A, Bonneau D, Mandel JL, Cossee M, Dollfus H . BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families . J. Hum. Genet. . 51 . 1 . 81–4 . 2006 . 16308660 . 10.1007/s10038-005-0320-2 . free .