UTP4 explained

UTP4 is a gene that encodes the protein Cirhin, the gene is also known as CIRH1A and NAIC.^{[1] [2] [3]} This protein contains a WD40 repeat and is localized to the nucleolus where it colocates with UTP15 and WDR43.^[4] Biallelic mutations to UTP4 have been associated with North American Indian childhood cirrhosis, a form of inherited cirrhosis of the liver occurring in American Indian children from the Abitibi region of northern Quebec.^[5]

Further reading

• López-Fernández LA, del Mazo J . Characterization of genes expressed early in mouse spermatogenesis, isolated from a subtractive cDNA library . Mammalian Genome . 7 . 9 . 698–700 . September 1996 . 8703127 . 10.1007/s003359900210 . 29829690 .
• Nagase T, Kikuno R, Ohara O . Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins . DNA Research . 8 . 6 . 319–27 . December 2001 . 11853319 . 10.1093/dnares/8.6.319 .
• Scherl A, Couté Y, Déon C, Callé A, Kindbeiter K, Sanchez JC, Greco A, Hochstrasser D, Diaz JJ . 6 . Functional proteomic analysis of human nucleolus . Molecular Biology of the Cell . 13 . 11 . 4100–9 . November 2002 . 12429849 . 133617 . 10.1091/mbc.E02-05-0271 .
• Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, Mann M . Nucleolar proteome dynamics . Nature . 433 . 7021 . 77–83 . January 2005 . 15635413 . 10.1038/nature03207 . 2005Natur.433...77A . 4344740 .
• Yu B, Mitchell GA, Richter A . Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis . Experimental Cell Research . 311 . 2 . 218–28 . December 2005 . 16225863 . 10.1016/j.yexcr.2005.08.012 .

Notes and References

1. Bétard C, Rasquin-Weber A, Brewer C, Drouin E, Clark S, Verner A, Darmond-Zwaig C, Fortin J, Mercier J, Chagnon P, Fujiwara TM, Morgan K, Richter A, Hudson TJ, Mitchell GA . 6 . Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype . American Journal of Human Genetics . 67 . 1 . 222–8 . July 2000 . 10820129 . 1287080 . 10.1086/302993 .
2. Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A . 6 . A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis . American Journal of Human Genetics . 71 . 6 . 1443–9 . December 2002 . 12417987 . 378590 . 10.1086/344580 .
3. Web site: Entrez Gene: CIRH1A cirrhosis, autosomal recessive 1A (cirhin).
4. Sato M, Araki N, Kumeta M, Takeyasu K, Taguchi Y, Asai T, Furukawa K, Horigome T . 6 . Interaction, mobility, and phosphorylation of human orthologues of WD repeat-containing components of the yeast SSU processome t-UTP sub-complex . Biochemistry and Cell Biology . 91 . 6 . 466–75 . December 2013 . 24219289 . 10.1139/bcb-2013-0062 .
5. Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A . 6 . A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis . American Journal of Human Genetics . 71 . 6 . 1443–9 . December 2002 . 12417987 . 378590 . 10.1086/344580 . dead . https://archive.today/20130223080336/http://www.ajhg.org/AJHG/fulltext/S0002-9297(07)60865-9 . 2013-02-23 .