A missense mutation (R565W) in Cirhin (FLJ14728) in North American Indian childhood cirrhosis

American Journal of Human Genetics

Volumn 71, Issue 6, 2002, Pages 1443-1449

  Chagnon, Pierre ^a   Michaud, Jacques ^a   Mitchell, Grant ^a   Mercier, Jocelyne ^a   Marion, Jean François ^a   Drouin, Eric ^a   Rasquin Weber, Andrée ^a   Hudson, Thomas J ^b   Richter, Andrea ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CIRHIN; PROTEIN; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BILIARY CIRRHOSIS; CHROMOSOME 16Q; CHROMOSOME MAP; DNA SEQUENCE; EXON; EXPRESSED SEQUENCE TAG; GENE CLUSTER; GENE LOCUS; GENE MAPPING; HOMOZYGOSITY; HUMAN; HUMAN CELL; INDIAN CHILDHOOD CIRRHOSIS; INTRAHEPATIC CHOLESTASIS; LIVER TRANSPLANTATION; MISSENSE MUTATION; NEWBORN JAUNDICE; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PORTAL HYPERTENSION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN SECONDARY STRUCTURE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ALIAS;

EID: 0036918537     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/344580     Document Type: Article

References (22)

1. Arnell H, Nemeth A, Anneren G, Dahl N (1997) Progressive familial intrahepatic cholestasis (PFIC): Evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22. Hum Genet 100:378-381
2. Betard 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 (2000) Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22 - And identification of a shared haplotype. Am J Hum Genet 67:222-228
3. Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LW, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RH, Freimer NB (1998) A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 18:219-224
4. Camacho JA, Obie C, Biery B, Goodman BK, Hu CA, Almashanu S, Steel G, Casey R, Lambert M, Mitchell GA, Valle D (1999) Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. Nat Genet 22:151-158
5. Chen HL, Chang PS, Hsu HC, Lee JH, Ni YH, Hsu HY, Jeng YM, Chang MH (2001) Progressive familial intrahepatic cholestasis with high γ-glutamyltranspeptidase levels in Taiwanese infants: Role of MDR3 gene defect? Pediatr Res 50: 50-55
6. de Vree JM, Jacquemin E, Sturm E, Cresteil D, Bosma PJ, Aten J, Deleuze JF, Desrochers M, Burdelski M, Bernard O, Oude Elferink RP, Hadchouel M (1998) Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci USA 95:282-287
7. Drouin E, Mitchell GA, Rasquin-Weber A (2000a) Other inherited cholestatic disorders. In: Walker AW, Durie PR, Hamilton JR, Walker-Smith JA, Watkins JB (eds) Pediatric Gastrointestinal Disease: Pathophysiology, Diagnosis, Management. 3rd Ed. BC Decker, Hamilton, Ontario, pp 1211-1218
8. Drouin E, Russo P, Tuchweber B, Mitchell G, Rasquin-Weber A (2000b) North American Indian cirrhosis in children: A review of 30 cases. J Pediatr Gastroenterol Nutr 31:395-404
9. Greenberg CR, Reimer D, Singal R, Triggs-Raine B, Chudley AE, Dilling LA, Philipps S, Haworth JC, Seargeant LE, Goodman SI (1995) A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I. Hum Mol Genet 4:493-495
10. Hegele RA (2001) Genes, environment and diabetes in Canadian aboriginal communities. Adv Exp Med Biol 498: 11-20
11. Jacquemin E (2000) Progressive familial intrahepatic cholestasis. Genetic basis and treatment. Clin Liver Dis 4:753-763
12. Jansen PL, Muller M (2000) Genetic cholestasis: Lessons from the molecular physiology of bile formation. Can J Gastroenterol 14:233-238
13. Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont ME, Rand EB, Piccoli DA, Hood L, Spinner NB (1997) Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 16:243-251
14. Meira LB, Graham JM Jr, Greenberg CR, Busch DB, Doughty AT, Ziffer DW, Coleman DM, Savre-Train I, Friedberg EC (2000) Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. Am J Hum Genet 66: 1221-1228
15. Mok A, Cao H, Zinman B, Hanley AJ, Harris SB, Kennedy BP, Hegele RA (2002) A single nucleotide polymorphism in protein tyrosine phosphatase PTP-1B is associated with protection from diabetes or impaired glucose tolerance in Oji-Cree. J Clin Endocrinol Metab 87:724-727
16. Robinson BH, Oei J, Sherwood WG, Applegarth D, Wong L, Haworth J, Goodyer P, Casey R, Zaleski LA (1984) The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency. Am J Hum Genet 36:283-294
17. Smith TF, Gaitatzes C, Saxena K, Neer EJ (1999) The WD repeat: A common architecture for diverse functions. Trends Biochem Sci 24:181-185
18. Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Nemeth A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ (1998) A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 20:233-238
19. Templeton AR, Clark AG, Weiss KM, Nickerson DA, Boerwinkle E, Sing CF (2000) Recombinational and mutational hotspots within the human lipoprotein lipase gene. Am J Hum Genet 66:69-83
20. Triggs-Raine BL, Kirkpatrick RD, Kelly SL, Norquay LD, Cattini PA, Yamagata K, Hanley AJ, Zinman B, Harris SB, Barrett PH, Hegele RA (2002) HNF-1alpha G319S, a trans-activation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community. Proc Natl Acad Sci USA 99:4614-4619
21. Weiler T, Greenberg CR, Nylen E, Halliday W, Morgan K, Eggertson D, Wrogemann K (1996) Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am J Hum Genet 59:872-878
22. Winzeler EA, Shoemaker DD, Astromoff A, Liang H, Anderson K, Andre B, Bangham R, et al (1999) Functional characterization of the S. cerevisiae genome by gene deletion and parallel analysis. Science 285:901-906