Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1996-10-24
pubmed:abstractText
Acquired partial and complete deletions of chromosome 5 (5q-, -5) are common cytogenetic anomalies associated with myelodysplasia (MDS) and acute myeloid leukemia (AML). A critical region of consistent loss at 5q31.1 (in > 90% of cases) has led us and others to postulate the presence of a key negative regulator(s) of leukemogenesis. Although the interstitial deletion limits vary among patients, del(5) (q13q33) and del(5)(q13q35) constitute major subsets. Furthermore, it is not rare to encounter deletions, translocations, or paracentric inversions involving 5q11 to 5q13, which indicates inactivation or disruption of important gene(s) at that locus. In this report, we have localized a novel locus at 5q13.1 to a 2.0-Mb interval between the anonymous markers D5S672 and GATA-P1804. This locus resided within the region of loss in 12 of 27 patients with anomalies of chromosome 5; one of these cases had apparent retention of both alleles of all the telomeric loci. Fluorescence in situ hybridization (FISH) studies demonstrate that the AML cell line ML3 is disrupted at 5q13.1 by a translocation involving chromosome 3, with apparent retention of the entire chromosome 5 sequence. Our results suggest that this novel proximal locus encodes a critical gene that may be deleted or disrupted in a subset of MDS/AML patients with chromosome 5 anomalies.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0006-4971
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
88
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2259-66
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed-meshheading:8822947-Adult, pubmed-meshheading:8822947-Aged, pubmed-meshheading:8822947-Chromosome Aberrations, pubmed-meshheading:8822947-Chromosome Deletion, pubmed-meshheading:8822947-Chromosome Disorders, pubmed-meshheading:8822947-Chromosome Inversion, pubmed-meshheading:8822947-Chromosome Mapping, pubmed-meshheading:8822947-Chromosomes, Human, Pair 5, pubmed-meshheading:8822947-DNA, Neoplasm, pubmed-meshheading:8822947-Female, pubmed-meshheading:8822947-Genetic Markers, pubmed-meshheading:8822947-Heterozygote, pubmed-meshheading:8822947-Humans, pubmed-meshheading:8822947-In Situ Hybridization, Fluorescence, pubmed-meshheading:8822947-Leukemia, Myeloid, Acute, pubmed-meshheading:8822947-Male, pubmed-meshheading:8822947-Middle Aged, pubmed-meshheading:8822947-Myelodysplastic Syndromes, pubmed-meshheading:8822947-Translocation, Genetic
pubmed:year
1996
pubmed:articleTitle
Translocations and deletions of 5q13.1 in myelodysplasia and acute myelogenous leukemia: evidence for a novel critical locus.
pubmed:affiliation
Department of Hematology, University of Texas M.D. Anderson Cancer Center, Houston 77030, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't