title: Balanced parental contribution to the ABL component of the BCR-ABL gene in chronic myeloid leukemia.
abstract: Genomic imprinting has recently been associated with the reciprocal t(9;22) chromosome translocation of chronic myeloid leukaemia (CML). This translocation gives rise to a 22q-, or Philadelphia (Ph), chromosome and a derivative 9q+. Based on heterochromatin polymorphisms, it was reported that the former is of maternal and the latter of paternal origin in every case of CML. This parental bias led to the hypothesis that the genes disrupted by the translocation, BCR and ABL, were themselves imprinted, and that in CML the BCR-ABL gene was formed by BCR sequences of maternal and ABL sequences of paternal origin. We have identified a BstNl restriction fragment length polymorphism in the ABL coding sequence which enabled us to investigate directly the expression and inheritance of the two ABL alleles in heterozygous CML patients. Amplification of the specific BCR-ABL and normal ABL mRNA messages by reverse transcriptase-polymerase chain reaction in these patients showed that the ABL moiety of the BCR-ABL gene has an even chance of being the paternal or the maternal copy. We conclude therefore that there is no parental bias in the origin of the translocated ABL gene and no evidence for genomic imprinting of ABL in CML.
authors.affiliation: LRF Leukaemia Unit, Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.
authors.forename: J V
authors.initials: JV
authors.lastname: Melo
authors.forename: X H
authors.initials: XH
authors.lastname: Yan
authors.forename: J
authors.initials: J
authors.lastname: Diamond
authors.forename: J M
authors.initials: JM
authors.lastname: Goldman
mesh_terms: D000483:Alleles; D001483:Base Sequence; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D015870:Gene Expression; D018392:Genomic Imprinting; D006579:Heterozygote; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D010290:Parents; D010677:Philadelphia Chromosome; D012333:RNA, Messenger / Q000235:genetics; D012334:RNA, Neoplasm / Q000235:genetics
chemical_list: D017931:DNA Primers; D012333:RNA, Messenger; D012334:RNA, Neoplasm; D016044:Fusion Proteins, bcr-abl