Dynamics and processes of copy number instability in human γ-globin genes

Proceedings of the National Academy of Sciences of the United States of America

Volumn 107, Issue 18, 2010, Pages 8304-8309

  Neumann, Rita ^a   Lawson, Victoria E ^a   Jeffreys, Alec J ^a  

^a UNIVERSITY OF LEICESTER   (United Kingdom)

Author keywords

Base mutation; Blood; Ectopic; Recombination; Sperm

Indexed keywords

GAMMA GLOBIN; GENOMIC DNA;

ARTICLE; CHROMATID EXCHANGE; CHROMOSOME; DELETION MUTANT; DNA TRANSFER; DUPLICATE GENE; ELECTROPHORESIS; GENE DUPLICATION; GENE REARRANGEMENT; GENOME; GERM LINE; HAPLOTYPE; HETEROZYGOSITY; HUMAN; MALE; MEIOSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SPERM;

BASE SEQUENCE; GAMMA-GLOBINS; GENE DOSAGE; GENE REARRANGEMENT; GENOMIC INSTABILITY; HUMANS; MALE; MUTATION; RECOMBINATION, GENETIC; SPERMATOZOA;

EID: 77952359134     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1003634107     Document Type: Article

References (37)

1. Conrad DF, Andrews TD, Carter NP, Hurles ME, Pritchard JK (2006) A high-resolution survey of deletion polymorphism in the human genome. Nat Genet 38:75-81. (Pubitemid 43011885)
2. Redon R, et al. (2006) Global variation in copy number in the human genome. Nature 444:444-454. (Pubitemid 44809057)
3. Kidd JM, et al. (2008) Mapping and sequencing of structural variation from eight human genomes. Nature 453:56-64.
4. Alkan C, et al. (2009) Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet 41:1061-1067.
5. Conrad DF, et al. The Wellcome Trust Case Control Consortium (2009) Origins and functional impact of copy number variation in the human genome. Nature, in press.
6. Stankiewicz P, Lupski JR (2010) Structural variation in the human genome and its role in disease. Annu Rev Med 61:437-455.
7. Hastings PJ, Lupski JR, Rosenberg SM, Ira G (2009) Mechanisms of change in gene copy number. Nat Rev Genet 10:551-564.
8. Zhang F, et al. (2009) The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet 41:849-853.
9. Turner DJ, et al. (2008) Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat Genet 40:90-95.
10. Lam KWG, Jeffreys AJ (2006) Processes of copy-number change in human DNA: The dynamics of α-globin gene deletion. Proc Natl Acad Sci USA 103:8921-8927.
11. Lam KWG, Jeffreys AJ (2007) Processes of de novo duplication of human α-globin genes. Proc Natl Acad Sci USA 104:10950-10955.
12. A γ-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes. Cell 21:627-638.
13. Barrie PA, Jeffreys AJ, Scott AF (1981) Evolution of the -globin gene cluster in man and the primates. J Mol Biol 149:319-336.
14. Shen SH, Slightom JL, Smithies O (1981) A history of the human fetal globin gene duplication. Cell 26:191-203. (Pubitemid 12244497)
15. Smithies O, Powers PA (1986) Gene conversions and their relation to homologous chromosome pairing. Philos Trans R Soc Lond B Biol Sci 312:291-302.
16. Hill AVS, Bowden DK, Weatherall DJ, Clegg JB (1986) Chromosomes with one, two, three, and four fetal globin genes: Molecular and hematologic analysis. Blood 67:1611-1618.
17. Jeffreys AJ, Kauppi L, Neumann R (2001) Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex. Nat Genet 29:217-222. (Pubitemid 32952662)
18. Webb AJ, Berg IL, Jeffreys AJ (2008) Sperm cross-over activity in regions of the human genome showing extreme breakdown of marker association. Proc Natl Acad Sci USA 105:10471-10476.
19. Reiter LT, et al. (1996) A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet 12:288-297.
20. Reiter LT, et al. (1998) Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am J Hum Genet 62:1023-1033.
21. Lopes J, et al. (1999) Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: A study of 17p11.2 rearrangements associated with CMT1A and HNPP. Hum Mol Genet 8:2285-2292. (Pubitemid 29525344)
22. Crow JF (2000) The origins, patterns and implications of human spontaneous mutation. Nat Rev Genet 1:40-47.
23. Nachman MW, Crowell SL (2000) Estimate of the mutation rate per nucleotide in humans. Genetics 156:297-304.
24. Kondrashov AS (2003) Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases. Hum Mutat 21:12-27.
25. Xue Y, et al.; Asan (2009) Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree. Curr Biol 19:1453-1457.
26. Borts RH, Haber JE (1987) Meiotic recombination in yeast: alteration by multiple heterozygosities. Science 237:1459-1465.
27. Chen W, Jinks-Robertson S (1999) The role of the mismatch repair machinery in regulating mitotic and meiotic recombination between diverged sequences in yeast. Genetics 151:1299-1313. (Pubitemid 29177544)
28. Holloway K, Lawson VE, Jeffreys AJ (2006) Allelic recombination and de novo deletions in sperm in the human β-globin gene region. Hum Mol Genet 15:1099-1111.
29. Tiemann-Boege I, et al. (2002) The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect. Proc Natl Acad Sci USA 99:14952-14957. (Pubitemid 35334591)
30. Goriely A, McVean GAT, Röjmyr M, Ingemarsson B, Wilkie AOM (2003) Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science 301:643-646. (Pubitemid 36927947)
31. Goriely A, et al. (2005) Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia. Proc Natl Acad Sci USA 102:6051-6056. (Pubitemid 40594253)
32. Qin J, et al. (2007) The molecular anatomy of spontaneous germline mutations in human testes. PLoS Biol 5:e224. (Pubitemid 47416590)
33. Jeffreys AJ, Ritchie A, Neumann R (2000) High resolution analysis of haplotype diversity and meiotic crossover in the human TAP2 recombination hotspot. Hum Mol Genet 9:725-733. (Pubitemid 30162756)
34. Jeffreys AJ, Murray J, Neumann R (1998) High-resolution mapping of crossovers in human sperm defines a minisatellite-associated recombination hotspot. Mol Cell 2:267-273. (Pubitemid 128373653)
35. May CA, et al. (2000) Minisatellite mutation frequency in human sperm following radiotherapy. Mutat Res 453:67-75.
36. Jeffreys AJ, Neil DL, Neumann R (1998) Repeat instability at human minisatellites arising from meiotic recombination. EMBO J 17:4147-4157.
37. Lyle R, Wright TJ, Clark LN, Hewitt JE (1995) The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes. Genomics 28:389-397.