HYLS1 explained

Hydrolethalus syndrome protein 1 is a protein that in humans is encoded by the HYLS1 gene.^{[1] [2]}

Function

Hyls1 is incorporated into centrioles as they are formed but is not required for centriole assembly. However Hyls1 is required for the formation of cilia.^[3]

Clinical significance

Mutations in this gene are associated with hydrolethalus syndrome.^[2]

Further reading

• Stelzl U, Worm U, Lalowski M, etal . A human protein-protein interaction network: a resource for annotating the proteome. . Cell . 122 . 6 . 957–68 . 2005 . 16169070 . 10.1016/j.cell.2005.08.029 . 11858/00-001M-0000-0010-8592-0 . 8235923 . free .
• Rose JE, Behm FM, Drgon T, etal . Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. . Mol. Med. . 16 . 7–8 . 247–53 . 2010. 20379614 . 10.2119/molmed.2009.00159 . 2896464.
• Visapää I, Salonen R, Varilo T . Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25. . Am. J. Hum. Genet. . 65 . 4 . 1086–95 . 1999 . 10486328 . 10.1086/302603 . 1288242. etal.
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery. . Genome Res. . 6 . 9 . 791–806 . 1996 . 8889548 . 10.1101/gr.6.9.791. free .
• 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 . 10.1073/pnas.242603899 . 139241. 2002PNAS...9916899M . free .
• Paetau A, Honkala H, Salonen R, etal . Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis. . J. Neuropathol. Exp. Neurol. . 67 . 8 . 750–62 . 2008 . 18648327 . 10.1097/NEN.0b013e318180ec2e . 12872658 .

Notes and References

1. Web site: Entrez Gene: hydrolethalus syndrome 1.
2. Mee L, Honkala H, Kopra O, Vesa J, Finnilä S, Visapää I, Sang TK, Jackson GR, Salonen R, Kestilä M, Peltonen L . Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1 . Hum. Mol. Genet. . 14 . 11 . 1475–88 . June 2005 . 15843405 . 10.1093/hmg/ddi157 . free .
3. Dammermann A, Pemble H, Mitchell BJ, McLeod I, Yates JR, Kintner C, Desai AB, Oegema K . The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation . Genes Dev. . 23 . 17 . 2046–59 . September 2009 . 19656802 . 2751977 . 10.1101/gad.1810409 .