Missense Mutations in hMLH1 and hMSH2 Are Associated with Exonic Splicing Enhancers

American Journal of Human Genetics

Volumn 73, Issue 5, 2003, Pages 1157-1161

  Gorlov, Ivan P ^a   Gorlova, Olga Y ^a   Frazier, Marsha L ^a   Amos, Christopher I ^a  

^a UNIVERSITY OF TEXAS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; COLON CANCER; COMPARATIVE STUDY; CONTROLLED STUDY; EXON; GENE; GENE DELETION; GENE LOCATION; HMLH1 GENE; HMSH2 GENE; HUMAN; MISMATCH REPAIR; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN MOTIF; RNA SPLICING; STATISTICAL SIGNIFICANCE;

EID: 0242522413     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/378819     Document Type: Article

References (17)

1. Ars E, Serra E, Garcia J, Kruyer H, Gaona A, Lazaro C, Estivill X (2000) Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet 9:237-247
2. Blencowe BJ (2000) Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases. Trends Biochem Sci 25:106-110
3. Cartegni L, Chew SL, Krainer AR (2002) Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3:285-298
4. Cartegni L, Krainer AR (2002) Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet 30: 377-384
5. Chabot B, LeBel C, Hutchison S, Nasim FH, Simard MJ (2003) Heterogeneous nuclear ribonucleoprotein particle A/B proteins and the control of alternative splicing of the mammalian heterogeneous nuclear ribonucleoprotein particle A1 pre-mRNA. Prog Mol Subcell Biol 31:59-88
6. Dagan T, Talmor Y, Graur D (2002) Ratios of radical to conservative amino acid replacement are affected by mutational and compositional factors and may not be indicative of positive Darwinian selection. Mol Biol Evol 19:1022-1025
7. Fackenthal JD, Cartegni L, Krainer AR, Olopade OI (2002) BRCA2 T2722R is a deleterious allele that causes exon skipping. Am J Hum Genet 71:625-631
8. Graveley BR (2000) Sorting out the complexity of SR protein functions. RNA 6:1197-1211
9. Hastings ML, Krainer AR (2001) Pre-mRNA splicing in the new millennium. Curr Opin Cell Biol 13:302-309
10. Liu HX, Chew SL, Cartegni L, Zhang MQ, Krainer AR (2000) Exonic splicing enhancer motif recognized by human SC35 under splicing conditions. Mol Cell Biol 20:1063-1071
11. Liu HX, Zhang M, Krainer AR (1998) Identification of functional exonic splicing enhancer motifs recognized by indiovidual SR proteins. Genes Dev 12:1998-2012
12. Martin AC, Facchiano AM, Cuff AL, Hernandez-Boussard T, Olivier M, Hainaut P, Thornton JM (2002) Integrating mutation data and structural analysis of the TP53 tumor-suppressor protein. Hum Mutat 19:149-164
13. Moseley CT, Mullis PE, Prince MA, Phillips JA 3rd (2002) An exon splice enhancer mutation causes autosomal dominant GH deficiency. J Clin Endocrinol Metab 87:847-852
14. Olivier M, Eeles R, Hollstein M, Khan MA, Harris CC, Hainaut P (2002) The IARC TP53 database: new online mutation analysis and recommendations to users. Hum Mutat 19:607-614
15. Peltomaki P, Vasen HF (1997) Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. Gastroenterology 113:1146-1158
16. Pollard AJ, Krainer AR, Robson SC, Europe-Finner GN (2002) Alternative splicing of the adenylyl cyclase stimulatory G-protein G α(s) is regulated by SF2/ASF and heterogeneous nuclear ribonucleoprotein A1 (hnRNPA1) and involves the use of an unusual TG 3′-splice site. J Biol Chem 277:15241-15251
17. Stojdl DF, Bell JC (1999) SR protein kinases: the splice of life. Biochem Cell Biol 77:293-298