TY - JOUR
T1 - Translocations and deletions of 5q13.1 in myelodysplasia and acute myelogenous leukemia
T2 - Evidence for a novel critical locus
AU - Fairman, Jeffery
AU - Wang, Rui Yu
AU - Liang, Hong
AU - Zhao, Lian
AU - Saltman, David
AU - Liang, Jan C.
AU - Nagarajan, Lalitha
PY - 1996/9/15
Y1 - 1996/9/15
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=9544254827&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=9544254827&partnerID=8YFLogxK
U2 - 10.1182/blood.v88.6.2259.bloodjournal8862259
DO - 10.1182/blood.v88.6.2259.bloodjournal8862259
M3 - Article
C2 - 8822947
AN - SCOPUS:9544254827
SN - 0006-4971
VL - 88
SP - 2259
EP - 2266
JO - Blood
JF - Blood
IS - 6
ER -