| References |
|
|
Ballabio A and
Andria G
(1992)
Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses.
Human Molecular Genetics
1:
221–227.
|
|
|
Bondeson ML,
Dahl N,
Malmgren H et al.
(1995)
Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome.
Human Molecular Genetics
4(4):
615–621.
|
|
|
Chance PF,
Abbas N,
Lensch MW et al.
(1994)
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.
Human Molecular Genetics
3:
223–228.
|
|
|
Chen KS,
Manian P,
Koeuth T et al.
(1997)
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.
Nature Genetics
17:
154–163.
|
|
|
Christian SL,
Fantes JA,
Mewborn SK,
Huang B and
Ledbetter DH
(1999)
Large genomic duplicons map to sites of instability in Prader–Willi/Angelman syndrome chromosome region (15q11–q13).
Human Molecular Genetics
8(6):
1025–1037.
|
|
|
Dehal P,
Predki P,
Olsen AS et al.
(2001)
Human chromosome 19 and related regions in mouse: conservative and lineage-specific evolution.
Science
293(5527):
104–111.
|
|
|
Dorschner MO,
Sybert VP,
Weaver M,
Pletcher BA and
Stephens K
(2000)
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.
Human Molecular Genetics
9(1):
35–46.
|
|
|
Edelmann L,
Pandita RK and
Morrow BE
(1999a)
Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.
American Journal of Human Genetics
64:
1076–1086.
|
|
|
Edelmann L,
Pandita RK,
Spiteri E et al.
(1999b)
A common molecular basis for rearrangement disorders on chromosome 22q11.
Human Molecular Genetics
8(7):
1157–1167.
|
|
|
Eichler EE
(2001)
Recent duplication, domain accretion and the dynamic mutation of the human genome.
Trends in Genetics
17:
661–669.
|
|
|
Eichler EE,
Budarf ML,
Rocchi M et al.
(1997)
Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity.
Human Molecular Genetics
6(7):
991–1002.
|
|
|
Eichler EE,
Lu F,
Shen Y et al.
(1996)
Duplication of a gene rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution.
Human Molecular Genetics
5(7):
899–912.
|
|
|
Emanuel BS and
Shaikh TH
(2001)
Segmental duplications: an ‘expanding’ role in genomic instability and disease.
Nature Reviews Genetics
2:
791–800.
|
|
|
Giglio S,
Broman KW,
Matsumoto N et al.
(2001)
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.
American Journal of Human Genetics
68(4):
874–883.
|
|
|
Gratacos M,
Nadal M,
Martin-Santos R et al.
(2001)
A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders.
Cell
106(3):
367–379.
|
|
|
IHGSC (International Human Genome Sequencing Consortium)
(2001)
Initial sequencing and analysis of the human genome.
Nature
409:
860–921.
|
|
|
Ji Y,
Eichler EE,
Schwartz S and
Nicholls RD
(2000)
Structure of chromosomal duplicons and their role in mediating human genomic disorders.
Genome Research
10(5):
597–610.
|
|
|
Ji Y,
Walkowicz MJ,
Buiting K et al.
(1999)
The ancestral gene for transcribed, low-copy repeats in the Prader–Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities.
Human Molecular Genetics
8(3):
533–542.
|
|
|
Kiyosawa H and
Chance PF
(1996)
Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hot spot.
Human Molecular Genetics
8:
745–753.
|
|
|
Kurahashi H,
Shaikh TH,
Hu P et al.
(2000a)
Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22).
Human Molecular Genetics
9:
1665–1670.
|
|
|
Kurahashi H,
Shaikh TH,
Zackai EH et al.
(2000b)
Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).
American Journal of Human Genetics
67(3):
763–768.
|
|
|
Kuroda-Kawaguchi T,
Skaletsky H,
Brown LG et al.
(2001)
The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men.
Nature Genetics
29(3):
279–286.
|
|
|
Lakich D,
Kazazian HH,
Antonarakis SE and
Gitschier J
(1993)
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A.
Nature Genetics
5:
236–241.
|
|
|
Landgraf JM,
Ji Y,
Gottlieb W et al.
(1999)
Chromosome breakage in the Prader–Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.
American Journal of Human Genetics
65(2):
370–386.
|
|
|
Li XM,
Yen PH and
Shapiro LJ
(1992)
Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosome.
Nucleic Acids Research
20(5):
1117–1122.
|
|
|
Locke DP,
Yavor AM,
Lehoczky J et al.
(2001)
Structure and evolution of genomic duplication in 15q11-q13 [abstract].
American Journal of Human Genetics
69:
17.
|
|
|
Lopez-Correa C,
Dorschner M,
Brems H et al.
(2001)
Recombination hot spot in NF1 microdeletion patients.
Human Molecular Genetics
10(13):
1387–1392.
|
|
|
Lund J,
Roe B,
Chen F et al.
(1999)
Sequence-ready physical map of the mouse chromosome 16 region with conserved synteny to the human velocardiofacial syndrome region on 22q11.2.
Mammalian Genome
10(5):
438–443.
|
|
|
Lupski JR
(1998a)
Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits.
Trends in Genetics
14(10):
417–422.
|
|
|
Lupski JR
(1998b)
Charcot–Marie–Tooth disease: lessons in genetic mechanisms.
Molecular Medicine
4:
3–11.
|
|
|
Mazzarella R and
Schlessinger D
(1998)
Pathological consequences of sequence duplications in the human genome.
Genome Research
8(10):
1007–1021.
|
|
|
McTaggart KE,
Budarf ML,
Driscoll DA et al.
(1998)
Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints.
Cytogenetics and Cell Genetics
81:
222–228.
|
|
|
Naylor JA,
Buck D,
Green P et al.
(1995)
Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions.
Human Molecular Genetics
4(7):
1217–1224.
|
|
|
Naylor JA,
Nicholson P,
Goodeve A et al.
(1996)
A novel DNA inversion causing severe hemophilia A.
Blood
87(8):
3255–3261.
|
|
|
Nickerson E and
Nelson DL
(1998)
Molecular definition of pericentric inversion breakpoints occurring during the evolution of humans and chimpanzees.
Genomics
50(3):
368–372.
|
|
|
Osborne LR,
Li M,
Pober B et al.
(2001)
A 1.5 million-base pair inversion polymorphism in families with Williams–Beuren syndrome.
Nature Genetics
29(3):
321–325.
|
|
|
Park SS,
Stankiewicz P,
Bi W et al.
(2002)
Structure and evolution of the Smith-magenis syndrome repeat gene clusters, SMS-REPs.
Genome Research
12(5):
729–738.
|
|
|
Peoples R,
Franke Y,
Wang YK et al.
(2000)
A physical map, including a BAC/PAC clone contig, of the Williams–Beuren syndrome – deletion region at 7q11.23.
American Journal of Human Genetics
66(1):
47–68.
|
|
|
Perez-Jurado LA,
Wang YK,
Peoples R et al.
(1998)
A duplicated gene in the breakpoint regions of the 7q11.23 Williams–Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK.
Human Molecular Genetics
7:
325–334.
|
|
|
Potocki L,
Chen KS,
Park SS et al.
(2000)
Molecular mechanism for duplication 17p11.2 – the homologous recombination reciprocal of the Smith–Magenis microdeletion.
Nature Genetics
24(1):
84–87.
|
|
|
Pujana MA,
Nadal M,
Gratacos M et al.
(2001)
Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11–q13, 15q24, and 15q26.
Genome Research
11(1):
98–111.
|
|
|
Regnier V,
Meddeb M,
Lecointre G et al.
(1997)
Emergence and scattering of multiple neurofibromatosis (NF-1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition.
Human Molecular Genetics
6:
9–16.
|
|
|
Reiter LT,
Murakami T,
Koeuth T,
Gibbs RA and
Lupski JR
(1997)
The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.
Human Molecular Genetics
6(9):
1595–1603.
|
|
|
Reiter LT,
Murakami T,
Koeuth T et al.
(1996)
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.
Nature Genetics
12:
288–297.
|
|
|
Shaffer LG and
Lupski JR
(2000)
Molecular mechanisms for constitutional chromosomal rearrangements in humans.
Annual Review of Genetics
34:
297–329.
|
|
|
Shaikh TH,
Kurahashi H and
Emanuel BS
(2001)
Evolutionarily conserved duplications in 22q11 mediate deletions, duplications, translocations and genomic instability.
Genetics in Medicine
3(1):
6–13.
|
|
|
Shaikh TH,
Kurahashi H,
Saitta SC et al.
(2000)
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis.
Human Molecular Genetics
9:
489–501.
|
|
|
Small K ,
Iber J and
Warren ST
(1997)
Emerin deletion reveals common X-chromosome inversion mediated by inverted repeats.
Nature Genetics
16:
96–99.
|
|
|
Stankiewicz P and
Lupski JR
(2002a)
Genome architecture, rearrangements and genomic disorders.
Trends in Genetics
18:
74–80.
|
|
|
Stankiewicz P and
Lupski JR
(2002b)
Molecular-evolutionary mechanisms for genomic disorders.
Current Opinion in Genetics and Development
12(3):
312–319.
|
|
|
Trask B,
Friedman B,
Martin-Gallardo A et al.
(1998a)
Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes.
Human Molecular Genetics
7(1):
13–26.
|
|
|
Trask BJ,
Massa H,
Brand-Arpon V et al.
(1998b)
Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome.
Human Molecular Genetics
7(13):
2007–2020.
|
|
|
Valero MC,
de Luis O,
Cruces J and
Perez Jurado LA
(2000)
Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams–Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion.
Genomics
69(1):
1–13.
|
|
|
Wandstrat AE,
Leana-Cox J,
Jenkins L and
Schwartz S
(1998)
Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.
American Journal of Human Genetics
62(4):
925–936.
|
|
|
Wandstrat AE and
Schwartz S
(2000)
Isolation and molecular analysis of inv dup(15) and construction of a physical map of a common breakpoint in order to elucidate their mechanism of formation.
Chromosoma
109(7):
498–505.
|
|
|
Yen PH,
Li XM,
Tsai SP et al.
(1990)
Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements.
Cell
61(4):
603–610.
|
| Further Reading |
|
|
Bailey JA and
Eichler EE
(2006)
Primate segmental duplications: crucibles of evolution, diversity and disease.
Nature Reviews Genetics
7:
552–564.
|
|
|
Bailey JA,
Gu Z,
Clark RA et al.
(2002)
Recent segmental duplications in the human GENOME.
Science
297:
1003–1007.
|
|
|
Conrad B and
Antonarakis SE
(2007)
Gene duplication: a drive for phenotypic diversity and cause of human disease.
Annual Review of Genomics and Human Genetics
8:
17–35.
|
| Web Links |
|
|
ePath
Emerin (Emery-Dreifuss muscular dystrophy) (EMD); Locus ID: 2010. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2010
|
|
|
ePath
Emerin (Emery-Dreifuss muscular dystrophy) (EMD); MIM number: 300384. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?300384
|
|
|
ePath
Hect domain and RLD 2 (HERC2); Locus ID: 8924. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=8924
|
|
|
ePath
Hect domain and RLD 2 (HERC2); MIM number: 605837. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?605837
|
|
|
ePath
Iduronate 2-sulfatase (Hunter syndrome) (IDS); Locus ID: 3423. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3423
|
|
|
ePath
Iduronate 2-sulfatase (Hunter syndrome) (IDS); MIM number: 309900. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?309900
|
|
|
ePath
Peripheral myelin protein 22 (PMP22); Locus ID: 5376. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5376
|
|
|
ePath
Peripheral myelin protein 22 (PMP22); MIM number: 601097. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?601097
|
