PMID- 11417483 OWN - NLM STAT- MEDLINE DCOM- 20010712 LR - 20190915 IS - 0887-6924 (Print) IS - 0887-6924 (Linking) VI - 15 IP - 6 DP - 2001 Jun TI - Deletions of PURA, at 5q31, and PURB, at 7p13, in myelodysplastic syndrome and progression to acute myelogenous leukemia. PG - 954-62 AB - Deletions or monosomy of chromosomes 5 and 7 are frequently observed in myelodysplastic syndromes (MDS) and acute myelogenous leukemia (AML). In this study two genes, PURA and PURB, encoding functionally cooperative proteins in the Pur family, are localized to chromosome bands 5q31.1 and 7p13, respectively. One or both of these loci are shown to be hemizygously deleted in 60 MDS or AML patients using fluorescence in situ hybridization (FISH). High-resolution mapping of PURA localizes it approximately 1.1 Mb telomeric to the EGR-1 gene. Frequency of PURA deletion and segregation with EGR-1 indicate that PURA is within the most commonly deleted segment in myeloid disorders characterized by del(5)(q31). No mutations have been detected within the coding sequence of PURA. Concurrent deletions of PURA and PURB occur in MDS at a rate nearly 1.5-fold higher than statistically expected and in AML at a rate > 5-fold higher. This novel simultaneous deletion of two closely related gene family members may thus have consequences related to progression to AML. Pur alpha, an Rb-binding protein, has been implicated in cell cycle control and differentiation, and Pur alpha and Pur beta are reported to function as heterodimers. Alterations in these genes could affect a delicate balance critical in myeloid development. FAU - Lezon-Geyda, K AU - Lezon-Geyda K AD - Department of Pathology, Biochemistry and Molecular Biology, Derald H Ruttenberg Cancer Center, New York, NY, USA. FAU - Najfeld, V AU - Najfeld V FAU - Johnson, E M AU - Johnson EM LA - eng GR - CA55219/CA/NCI NIH HHS/United States PT - Comparative Study PT - Journal Article PT - Research Support, U.S. Gov't, P.H.S. PL - England TA - Leukemia JT - Leukemia JID - 8704895 RN - 0 (Cyclic AMP Response Element-Binding Protein) RN - 0 (DNA, Neoplasm) RN - 0 (DNA-Binding Proteins) RN - 0 (EGR1 protein, human) RN - 0 (Early Growth Response Protein 1) RN - 0 (Egr1 protein, mouse) RN - 0 (Immediate-Early Proteins) RN - 0 (Neoplasm Proteins) RN - 0 (Nerve Tissue Proteins) RN - 0 (PURA protein, human) RN - 0 (PURB protein, human) RN - 0 (Pura protein, mouse) RN - 0 (Transcription Factors) SB - IM MH - Acute Disease MH - Adult MH - Aged MH - Aged, 80 and over MH - Cell Transformation, Neoplastic/genetics MH - Child, Preschool MH - Chromosome Aberrations MH - Chromosome Deletion MH - Chromosome Mapping MH - Chromosomes, Artificial, Bacterial MH - Chromosomes, Human, Pair 5/*genetics MH - Chromosomes, Human, Pair 7/*genetics MH - Cyclic AMP Response Element-Binding Protein/*genetics MH - DNA, Neoplasm/genetics MH - DNA-Binding Proteins/*deficiency/genetics MH - Disease Progression MH - Early Growth Response Protein 1 MH - Female MH - *Gene Deletion MH - Gene Library MH - Genotype MH - Humans MH - *Immediate-Early Proteins MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Leukemia, Myeloid/*genetics/pathology MH - Loss of Heterozygosity MH - Male MH - Microsatellite Repeats MH - Middle Aged MH - Myelodysplastic Syndromes/*genetics/pathology MH - Neoplasm Proteins/deficiency/genetics MH - Nerve Tissue Proteins MH - Polymerase Chain Reaction MH - Transcription Factors/deficiency/genetics MH - Translocation, Genetic EDAT- 2001/06/22 10:00 MHDA- 2001/07/13 10:01 CRDT- 2001/06/22 10:00 PHST- 2001/06/22 10:00 [pubmed] PHST- 2001/07/13 10:01 [medline] PHST- 2001/06/22 10:00 [entrez] AID - 10.1038/sj.leu.2402108 [doi] PST - ppublish SO - Leukemia. 2001 Jun;15(6):954-62. doi: 10.1038/sj.leu.2402108.