Disorders of the genome architecture

Genomic Medicine

Volumn 2, Issue 3-4, 2008, Pages 69-76

  Kumar, Dhavendra ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

De novo mutations; Genome; Genome architecture; Genomic disorder; Genomic rearrangements; Malformation syndrome; Mendelian disease; Sporadic disease

Indexed keywords

EID: 68049120574     PISSN: 18717934     EISSN: 18717942     Source Type: Journal    
DOI: 10.1007/s11568-009-9028-2     Document Type: Review

References (29)

1. JI Bell 2003 The double helix in clinical practice Nature 421 6921 414 416 (Pubitemid 36157945)
2. P Blanco 2000 Divergent outcomes of intrachromosomal recombination on the human Y chromosome male infertility and recurrent polymorphisms J Med Genet 37 752 758 (Pubitemid 30793787)
3. E Boch MA Jobling 2003 Duplication of the AZFa region of the human Y chromosome are mediated by homolgous recombination between HERVs and are compatible with male fertility Hum Mol Genet 12 341 347 (Pubitemid 36204430)
4. IR Cardon JI Bell 2001 Association study designs for complex diseases Nat Rev Genet 2 91 99 (Pubitemid 33674000)
5. PF Chance N Abbas MW Lesch 1994 Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17 Hum Mol Genet 3 223 228 (Pubitemid 24060934)
6. A De Luca I Bottillo MC Dasdia 2007 Deletions of NF1 gene and exons detected by multiplex ligation dependent probe amplification J Med Genet 44 800 808 (Pubitemid 350275056)
7. L Edelman 1999 A common molecular basis for rearrangement disorders on chromosome 22q11 Hum Mol Genet 8 1157 1167
8. B Frank JL Bermejo K Hemminki 2007 Copy number variant in the candidate tumor suppressor gene MTUS1 and familial breast cancer risk Carcinogenesis 28 7 1442 1445 (Pubitemid 47241793)
9. F Greenberg V Guzzeta R Montes de Oca-Luna RE Magenis ACM Smith 1991 Molecular analysis of the Smith-Magenis syndrome: a possible contiguous gene syndrome associated with del(17)(p11.2) Am J Hum Genet 49 1207 1218 (Pubitemid 21891766)
10. Lee JA, Carvalho CM, Lupski JR (2007) A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell. 28;131(7):1235-1247 (Pubitemid 350297419)
11. FL Long DP Duckett LJ Billam 1998 Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay J Med Genet 35 425 428 (Pubitemid 28211641)
12. JR Lupski 1998 Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits Trends Genet 14 417 420
13. JR Lupski 2003 Genomic disorders: recombination-based disease resulting from genome architecture Am J Hum Genet 72 246 252 (Pubitemid 36194236)
14. JR Lupski 2007 Genomic rearrangements and sporadic disease Nat Genet 39 S43 S47
15. JR Lupski P Stankiewicz 2005 Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes PLoS Genet 1 e49
16. JR Lupski R Montes de Oca-Luna S Slaugenhaupt L Pentao 1991 DNA duplication associated with Charcot-Marie-Tooth disease type 1A Cell 66 219 232 (Pubitemid 121001361)
17. LR Osborne 2008 Genomic rearrangements in the spotlight Nat Genet 40 1 6 7
18. P Patel JR Lupski 1994 Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease Trends Genet 10 128 133 (Pubitemid 24107645)
19. L Pentao CA Wise AC Chinault PI Patel JR Lupski 1992 Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit Nat Genet 2 292 300
20. L Potocki K-S Chen T Koeuth J Killian ST Iannaccone 1999 DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome Am J Hum Genet 64 471 478 (Pubitemid 129500529)
21. L Potocki 2000 Molecular mechanisms for duplication 17p11.2-the homologous recombination reciprocal of the Smith-Magenis microdeletion Nat Genet 24 84 87 (Pubitemid 30041427)
22. L Potocki 2007 Characterization of the Pottocki-Lupski syndrome [dup(17)(p11.2p11.3) and delineation of dosage-sensitive critical interval that can convey autism phenotype Am J Hum Genet 80 633 649 (Pubitemid 46564401)
23. A Rauch HG Dörr 2007 Chromosome 5q subtelomeric deletion syndrome Am J Med Genet C Semin Med Genet 145 4 372 376 (Pubitemid 350155975)
24. R Redon 2006 Global variation in copy number in the human genome Nature 444 444 454 (Pubitemid 44809057)
25. LT Reiter T Murakami T Koeuth L Pentao 1996 A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element Nat Genet 12 288 297 (Pubitemid 26080088)
26. CJ Shaw JR Lupski 2004 Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease Hum Mol Genet 13 1 R57 R64
27. RE Slager TL Newton CN Vlangos B Finucane SH Elsea 2003 Mutations in RAII associated with Smith-Magenis syndrome Nat Genet 33 466 468 (Pubitemid 36390007)
28. MJ Somerville 2005 Severe expressive-language delay related to duplication of the William-Beuren locus N Eng J Med 353 1694 1701 (Pubitemid 41464708)
29. DJ Turner M Miretti D Rajan H Fiegler NP Carter 2008 Germline rates of de novo meiotic deletions and duplications causing several genomic disorders Nat Genet 40 1 90 95