Molecular Mapping of Uncharacteristically Small 5q Deletions in Two Patients with the 5q- Syndrome: Delineation of the Critical Region on 5q and Identification of a 5q- Breakpoint

Boultwood, Jacqueline; Fidler, Carrie; Lewis, Suzanne M.; Kelly, Steven L.; Sheridan, H; Littlewood, Tim; Buckle, Veronica J.; Wainscoat, J S

doi:10.1006/geno.1994.1090

Cited by 85 publications

(63 citation statements)

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“…The 5q31-q33 region where SM1 is located contains several candidate loci involved in the regulation of the immune response to pathogens, in particular genes coding for interleukin-4 (IL4), 13,27 IL5, 13,27 IL12, 28 interferon regulatory factor 1 (IRF1) 27 which encodes a transcriptional activator of interferon-alpha (IFNα), interferon-beta (IFN ) and other IFN-inducibles genes, and finally CSF1R. 27 Furthermore, this region has been linked with loci related to IgE and/or eosinophilia production, ie a locus regulating IgE levels, 13,29 a locus controlling bronchial hyper-responsiveness in asthma, 30 and a locus involved in familial hypereosinophilia.…”

Section: Discussionmentioning

confidence: 99%

Full results of the genome-wide scan which localises a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31–q33

et al. 1999

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Three hundred million individuals are at risk of infection by schistosomes, and thousands die each year of severe hepatic disease. Previous studies have shown that the intensity of infection by Schistosoma mansoni in a Brazilian population is controlled by a major gene, denoted as SM1. We report here the full results of a genome-wide search that was performed on this population to localise SM1. Two hundred and forty-six microsatellites were used for the primary map, and only one region in 5q31-q33 provided significant evidence of linkage. SM1 was subsequently mapped to this region, which contains several genes encoding cytokines or cytokine receptors which are involved in protection against schistosomes. Three additional regions, 1p22.2, 7q36 and 21q22-22-qter, yielded promising, although not significant, lod-score values. These regions contain candidate genes encoding cytokines or molecules relevant to anti-schistosome immunity.

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Section: Discussionmentioning

confidence: 99%

Full results of the genome-wide scan which localises a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31–q33

et al. 1999

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“…[23][24][25] Using fluorescence in situ hybridization and molecular mapping approaches, these investigators identified a 1.5-megabase locus at 5q32-5q33. Among the genes in this interval, 33 are expressed in CD34 þ hematopoietic progenitor cells, a population that includes the cells that are transformed in MDS.…”

Section: Architecture Of 5q Deletions In Mdsmentioning

confidence: 99%

Deletion 5q in myelodysplastic syndrome: a paradigm for the study of hemizygous deletions in cancer

Ebert

2009

Leukemia

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“…Although the cloning and characterization of fusion genes generated by chromosomal translocations have helped to clarify the pathogenesis of these hematologic malignancies, the contribution of the loss of genes within recurring deletions remains an enigma (1). Interstitial loss of all or part of the long arm of chromosome 5, del(5q), is one of the most frequent somatically occurring clonal chromosomal deletions in MDS and AML (1)(2)(3). Approximately 42% of patients with therapyrelated MDS͞AML (4-6) and 10-15% of those in whom these diseases arise de novo (7,8) show loss of heterozygosity within the long arm of chromosome 5.…”

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confidence: 99%

“…Many groups have worked diligently to identify and refine the critical deleted regions (CDRs) on human chromosome 5 and ultimately to identify the tumor suppressor genes in these regions (1)(2)(3)(4)(5)(6)(7). Using standard cytogenetic techniques, fluorescence in situ hybridization and loss-of-heterozygosity analysis based on genetic polymorphism, these groups identified two CDRs in MDS͞AML.…”

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Evolutionary conservation of zebrafish linkage group 14 with frequently deleted regions of human chromosome 5 in myeloid malignancies

Liu

Zhou

Kanki

et al. 2002

Proc. Natl. Acad. Sci. U.S.A.

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Recurring interstitial loss of all or part of the long arm of chromosome 5, del(5q), is a hallmark of myelodysplastic syndrome and acute myeloid leukemia. Although the genes affected by these changes have not been identified, two critically deleted regions (CDRs) are well established. We have identified 76 zebrafish cDNAs orthologous to genes located in these 5q CDRs. Radiation hybrid mapping revealed that 33 of the 76 zebrafish orthologs are clustered in a genomic region on linkage group 14 (LG14). Fifteen others are located on LG21, and two on LG10. Although there are large blocks of conserved syntenies, the gene order between human and zebrafish is extensively inverted and transposed. Thus, intrachromosomal rearrangements and inversions appear to have occurred more frequently than translocations during evolution from a common chordate ancestor. Interestingly, of the 33 orthologs located on LG14, three have duplicates on LG21, suggesting that the duplication event occurred early in the evolution of teleosts. Murine orthologs of human 5q CDR genes are distributed among three chromosomes, 18, 11, and 13. The order of genes within the three syntenic mouse chromosomes appears to be more colinear with the human order, suggesting that translocations occurred more frequently than inversions during mammalian evolution. Our comparative map should enhance understanding of the evolution of the del(5q) chromosomal region. Mutant fish harboring deletions affecting the 5q CDR syntenic region may provide useful animal models for investigating the pathogenesis of myelodysplastic syndrome and acute myeloid leukemia.

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Molecular Mapping of Uncharacteristically Small 5q Deletions in Two Patients with the 5q- Syndrome: Delineation of the Critical Region on 5q and Identification of a 5q- Breakpoint

Cited by 85 publications

References 0 publications

Full results of the genome-wide scan which localises a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31–q33

Full results of the genome-wide scan which localises a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31–q33

Deletion 5q in myelodysplastic syndrome: a paradigm for the study of hemizygous deletions in cancer

Evolutionary conservation of zebrafish linkage group 14 with frequently deleted regions of human chromosome 5 in myeloid malignancies

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