Hypermutability at a poly(A/T) tract in the human germline

Nucleic Acids Research

Volumn 29, Issue 21, 2001, Pages 4405-4413

  Bacon, Andrea L ^a   Dunlop, Malcolm G ^a   Farrington, Susan M ^a,b  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b WESTERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; DNA; POLYADENYLIC ACID; POLYLYSINE; POLYTHYMIDYLIC ACID; PROTEIN; THYMINE;

ALLELE; ARTICLE; BLOOD; COLORECTAL CANCER; CONTROLLED STUDY; DNA POLYMORPHISM; DNA REPAIR; DNA TEMPLATE; FAMILY; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENOME; GERM LINE; HEREDITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MICROSATELLITE INSTABILITY; MUTAGENICITY; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPERM;

STAPHYLOCOCCUS PHAGE 187;

EID: 0035504023     PISSN: 03051048     EISSN: None     Source Type: Journal    
DOI: 10.1093/nar/29.21.4405     Document Type: Article

References (35)

1. A second-generation linkage map of the human
2. Clues to the pathogenesis of familial colorectal cancer
3. Microsatellite instability in cancer of the proximal colon
4. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis
5. A National Cancer Institute workshop on hereditary nonpolyposis colorectal cancer syndrome: Meeting highlights and Bethesda guidelines
6. Diagnostic microsatellite instability: Definition and correlation with mismatch repair protein expression
7. Sequence interruptions confer differential stability at microsatellite alleles in mismatch repair-deficient cells
8. Microsatellite instability in tumors as a model to study the process of microsatellite
9. Mutation rate in human microsatellites: Influence of the structure and length of the tandem repeat
10. Mutation of human short tandem repeats
11. Complex gene conversion events in germline mutation at human minisatellites
12. Mutation rate heterogeneity and the generation of allele diversity at the human minisatellite MS205 (D16S309)
13. Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males
14. Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCR
15. The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing
16. Analysis of germline variation at the FMR1 CGG repeat shows variation in the normal-premutated borderline range
17. Microsatellites in different eukaryotic genomes: Survey and analysis
18. Initial sequencing and analysis of the human genome
19. TGF-beta receptors and DNA repair genes, coupled targets in a pathway of human colon carcinogenesis
20. Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability
21. Microsatellite instability and mutations of the transforming growth factor beta type II receptor gene in colorectal cancer
22. Characterization of human 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase gene and its expression in mammalian cells
23. A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer
24. Genetic instability occurs in the majority of young patients with colorectal cancer
25. Allelic profiles of mononucleotide repeat microsatellites in control individuals and in colorectal tumours with and without replication errors
26. BAT-26 and BAT-40 instability in colorectal adenomas and carcinomas and germline polymorphisms
27. Repeat unit sequence variation in minisatellites: A novel source of DNA polymorphism for studying variation and mutation by single molecule analysis
28. Extensive somatic microsatellite mutations in normal human tissue
29. Distribution of germline BAT-40 poly-adenine tract microsatellite variants in the Japanese
30. Poly(A), poly(A) binding protein and the regulation of mRNA stability
31. Aberrant splicing of the ATM gene associated with shortening of the intronic mononucleotide tract in human colon tumour cell lines: A novel mutation target of microsatellite instability
32. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
33. Mutation frequency in coding and non-coding repeat sequences in mismatch repair deficient cells derived from normal human tissue
34. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
35. Loci for efficient detection of microsatellite instability in hereditary non-polyposis colorectal cancer