Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs

Genome Research

Volumn 12, Issue 5, 2002, Pages 729-738

  Park, Sung Sup ^a,b,c,d,e   Stankiewicz, Pawe ^a,b,c,d,e   Bi, Weimin ^a,b,c,d,e   Shaw, Christine ^a,b,c,d,e   Lehoczky, Jessica ^a,b,c,d,e   Dewar, Ken ^a,b,c,d,e   Birren, Bruce ^a,b,c,d,e   Lupski, James R ^a,b,c,d,e  

^a Departments of Molecular and Human Genetics   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c TEXAS CHILDREN S HOSPITAL   (United States)

^d WHITEHEAD INSTITUTE FOR BIOMEDICAL RESEARCH   (United States)

^e Seoul National University Hospital   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

CONTIG;

ANIMAL CELL; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CHROMOSOME 17P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; CONTROLLED STUDY; DNA FLANKING REGION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE CLUSTER; GENE ORDER; GENE STRUCTURE; GENETIC ENGINEERING; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HOMOLOGOUS RECOMBINATION; HUMAN; HUMAN CELL; HUMAN GENOME; MEIOSIS; MITOSIS; MOLECULAR EVOLUTION; MONKEY; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHILADELPHIA 1 CHROMOSOME; PRIMATE; PRIORITY JOURNAL; PSEUDOGENE; SEQUENCE HOMOLOGY; SMITH MAGENIS SYNDROME; SPECIES DIFFERENTIATION;

ABNORMALITIES, MULTIPLE; BASE COMPOSITION; CELL LINE; CELL LINE, TRANSFORMED; CHROMOSOMES, HUMAN, PAIR 17; CLONING, MOLECULAR; CONTIG MAPPING; DNA FINGERPRINTING; EVOLUTION, MOLECULAR; GENE DOSAGE; GENE DUPLICATION; GENOME, HUMAN; HUMANS; MENTAL RETARDATION; MULTIGENE FAMILY; REPETITIVE SEQUENCES, NUCLEIC ACID; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, NUCLEIC ACID; SYNDROME;

ANIMALIA; BACTERIA (MICROORGANISMS); PLATYRRHINI; PRIMATES;

EID: 0036105179     PISSN: 10889051     EISSN: None     Source Type: Journal    
DOI: 10.1101/gr.82802     Document Type: Article

References (45)

1. Gapped BLAST and PSI-BLAST: A new generation of protein database search programs
2. Genes in the Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of mouse
3. Molecular mechanisms for CMT1A duplication and HNPP deletion
4. An anchored framework BAC map of mouse chromosome 11 assembled using multiplex oligonucleotide hybridization
5. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
6. Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13)
7. Comparative mapping of the region of human chromosome 7 deleted in Williams syndrome
8. Construction of a detailed physical and transcript map of the candidate region for Russell-Silver syndrome on chromosome 17q23-q24
9. NF1 microdeletion breakpoints are clustered at flanking repetitive sequences
10. The DNA sequence of human chromosome 22
11. Recent duplication, domain accretion and the dynamic mutation of the human genome
12. Segmental duplications: An "expanding" role in genomic rearrangements
13. Isochromosome 17q in blast crisis of chronic myeloid leukemia and in other hematologic malignancies is the result of clustered breakpoints in 17p11 and is not associated with coding TP53 mutations
14. Aberrant hypermethylation of the major breakpoint cluster region in 17p11.2 in medulloblastomas but not supratentorial PNETs
15. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements
16. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes
17. Initial sequencing and analysis of the human genome
18. Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions
19. Structure of chromosomal duplicons and their role in mediating human genomic disorders
20. Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome
21. Molecular evolution of the CMT1A-REP region: A human- and chimpanzee-specific repeat
22. The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene
23. Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot
24. A molecular timescale for vertebrate evolution
25. Structure and evolution of genomic duplication in 15q11-q13
26. Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
27. High throughput fingerprint analysis of large-insert clones
28. Inverted low copy repeats and a common 8p23 inversion polymorphism
29. Pathological consequences of sequence duplications in the human genome
30. Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene
31. A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
32. Detection of chromosomal imbalances in leiomyosarcoma by comparative genomic hybridization and interphase cytogenetics
33. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
34. Molecular mechanism for duplication 17p11.2-The homologous recombination reciprocal of the Smith-Magenis microdeletion
35. A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2)
36. The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs
37. Mapping of the breakpoints on the short arm of chromosome 17 in neoplasms with an i(17q)
38. Molecular mechanisms for constitutional chromosomal rearrangements in humans
39. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory
40. Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review
41. Genome architecture, rearrangements and genomic disorders
42. The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP
43. Gains and losses of DNA sequences in osteosarcomas by comparative genomic hybridization
44. 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 inversion(s)
45. Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion