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Narrowing and genomic annotation of the commonly deleted region of the 5q− syndrome
Abstract
The 5q− syndrome is the most distinct of the myelodysplastic syndromes, and the molecular basis for this disorder remains unknown. We describe the narrowing of the common deleted region (CDR) of the 5q− syndrome to the approximately 1.5-megabases interval at 5q32 flanked by D5S413 and theGLRA1 gene. The Ensembl gene prediction program has been used for the complete genomic annotation of the CDR. The CDR is gene rich and contains 24 known genes and 16 novel (predicted) genes. Of 40 genes in the CDR, 33 are expressed in CD34+ cells and, therefore, represent candidate genes since they are expressed within the hematopoietic stem/progenitor cell compartment. A number of the genes assigned to the CDR represent good candidates for the 5q− syndrome, including MEGF1, G3BP, and several of the novel gene predictions. These data now afford a comprehensive mutational/expression analysis of all candidate genes assigned to the CDR.
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Cited by
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List, A., Dewald, G., Bennett, J., Giagounidis, A., Raza, A., Feldman, E., Powell, B., Greenberg, P., Thomas, D., Stone, R., et al. (2006) · New England Journal of Medicine · doi:10.1056/nejmoa061292 · Cited by 1,319
Lenalidomide induces ubiquitination and degradation of CK1α in del(5q) MDS
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Identification of miR-145 and miR-146a as mediators of the 5q– syndrome phenotype
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Fink, E. C., McConkey, M., Adams, D. N., Haldar, S. D., Kennedy, J. A., Guirguis, A. A., Udeshi, N. D., Mani, D. R., Chen, M., Liddicoat, B., et al. (2018) · Blood · doi:10.1182/blood-2018-05-852798 · Cited by 131
Molecular Pathophysiology of Myelodysplastic Syndromes
Lindsley, R. C., & Ebert, B. L. (2013) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathol-011811-132436 · Cited by 88
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9
Schmitz-Abe, K., Ciesielski, S. J., Schmidt, P. J., Campagna, D. R., Rahimov, F., Schilke, B. A., Cuijpers, M., Rieneck, K., Lausen, B., Linenberger, M. L., et al. (2015) · Blood · doi:10.1182/blood-2015-09-659854 · Cited by 75
Metadata
- Authors
- Boultwood, J., Fidler, C., Strickson, A. J., Watkins, F., Gama, S., Kearney, L., Tosi, S., Kasprzyk, A., Cheng, J.-F., Jaju, R. J., & Wainscoat, J. S.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2002-06-15
- Volume
- 99
- Issue
- 12
- Pages
- 4638-4641
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2129119273
- Cited by
- 264
- References
- 0
- FWCI
- 1.88
- Type
- journal article
- Language
- en
- Open access
- closed
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