IFT88 explained

Intraflagellar transport protein 88 homolog is a protein that is encoded by the IFT88 gene.^{[1] [2]}

Function

This gene encodes a member of the tetratrico peptide repeat (TPR) family. Mutations of a similar gene in mouse can cause polycystic kidney disease. Two transcript variants encoding distinct isoforms have been identified for this gene. In 2012 a mutation was found to be responsible for a novel form of ciliopathy and anosmia in humans capable of remedy in mice by adenoviral mediated gene therapy.^[3]

Interactions

IFT88 has been shown to interact with BAT2 and WDR62.^{[4] [5]} WDR62 is required for IFT88 localization to the cilia basal body and the cilia axoneme. ^[6]

Further reading

• Murcia NS, Sweeney WE, Avner ED . New insights into the molecular pathophysiology of polycystic kidney disease . Kidney Int. . 55 . 4 . 1187–97 . 1999 . 10200981 . 10.1046/j.1523-1755.1999.00370.x . free .
• Moyer JH, Lee-Tischler MJ, Kwon HY, Schrick JJ, Avner ED, Sweeney WE, Godfrey VL, Cacheiro NL, Wilkinson JE, Woychik RP . Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice . Science . 264 . 5163 . 1329–33 . 1994 . 8191288 . 10.1126/science.8191288 . 1994Sci...264.1329M .
• Onuchic LF, Schrick JJ, Ma J, Hudson T, Guay-Woodford LM, Zerres K, Woychik RP, Reeders ST . Sequence analysis of the human hTg737 gene and its polymorphic sites in patients with autosomal recessive polycystic kidney disease . Mamm. Genome . 6 . 11 . 805–8 . 1995 . 8597639 . 10.1007/BF00539009 . 22176962 .
• Isfort RJ, Cody DB, Doersen CJ, Richards WG, Yoder BK, Wilkinson JE, Kier LD, Jirtle RL, Isenberg JS, Klounig JE, Woychik RP . The tetratricopeptide repeat containing Tg737 gene is a liver neoplasia tumor suppressor gene . Oncogene . 15 . 15 . 1797–803 . 1997 . 9362446 . 10.1038/sj.onc.1201535 . free .
• Bonura C, Paterlini-Brechot P, Brechot C . Structure and expression of Tg737, a putative tumor suppressor gene, in human hepatocellular carcinomas . Hepatology . 30 . 3 . 677–81 . 1999 . 10462374 . 10.1002/hep.510300325 . 29408388 .
• Taulman PD, Haycraft CJ, Balkovetz DF, Yoder BK . Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia . Mol. Biol. Cell . 12 . 3 . 589–99 . 2001 . 11251073 . 30966 . 10.1091/mbc.12.3.589 .
• Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S, Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L, Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N, Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J, Ducar M . Creation of genome-wide protein expression libraries using random activation of gene expression . Nat. Biotechnol. . 19 . 5 . 440–5 . 2001 . 11329013 . 10.1038/88107 . 25064683 .
• Lehner B, Semple JI, Brown SE, Counsell D, Campbell RD, Sanderson CM . Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region . Genomics . 83 . 1 . 153–67 . 2004 . 14667819 . 10.1016/S0888-7543(03)00235-0 .
• Khanna H, Hurd TW, Lillo C, Shu X, Parapuram SK, He S, Akimoto M, Wright AF, Margolis B, Williams DS, Swaroop A . RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins . J. Biol. Chem. . 280 . 39 . 33580–7 . 2005 . 16043481 . 1249479 . 10.1074/jbc.M505827200 . free .
• Robert A, Margall-Ducos G, Guidotti JE, Brégerie O, Celati C, Bréchot C, Desdouets C . The intraflagellar transport component IFT88/polaris is a centrosomal protein regulating G1-S transition in non-ciliated cells . J. Cell Sci. . 120 . Pt 4 . 628–37 . 2007 . 17264151 . 10.1242/jcs.03366 . free .

Notes and References

1. Schrick JJ, Onuchic LF, Reeders ST, Korenberg J, Chen XN, Moyer JH, Wilkinson JE, Woychik RP . Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease gene . Hum. Mol. Genet. . 4 . 4 . 559–67 . Sep 1995 . 7633404 . 10.1093/hmg/4.4.559 .
2. Web site: Entrez Gene: IFT88 intraflagellar transport 88 homolog (Chlamydomonas).
3. http://www.nature.com/nm/journal/vaop/ncurrent/full/nm.2860.html Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model
4. Lehner B, Semple JI, Brown SE, Counsell D, Campbell RD, Sanderson CM . Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region . Genomics . 83 . 1 . 153–67 . Jan 2004 . 14667819 . 10.1016/S0888-7543(03)00235-0 .
5. Shohayeb, B, et al. . The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development . Hum. Mol. Genet. . 29 . 2 . 248–263 . January 2020 . 10.1093/hmg/ddz281 . 31816041 . free .
6. Shohayeb, B, et al. . The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development . Hum. Mol. Genet. . 29 . 2 . 248–263 . January 2020 . 10.1093/hmg/ddz281 . 31816041 . free .