title: Spectral karyotypic study of the HL-60 cell line: detection of complex rearrangements involving chromosomes 5, 7, and 16 and delineation of critical region of deletion on 5q31.1.
abstract: Interstitial deletions of the q arm of chromosome 5 have been associated with acute myelogenous leukemia (AML); therefore, accurate identification of rearrangements of this chromosome in a model cell line, HL-60, is important for understanding the critical genes involved in this disease. In this study, we employed a newly developed technology termed spectral karyotyping to delineate chromosomal rearrangements in this cell line. Our study revealed a derivative of chromosome 7 that resulted from translocations of chromosome arms 5q and 16q to 7q; that is, der(7)t(5;7)(?;q?)t(5;16)(?;q?). Interestingly, both chromosomes 5 and 7 were also involved in translocations with chromosome 16 in der(16) t(5;16)(q?;q?22-24) and der(16)t(7;16)(?;q?22-24), respectively. Other notable chromosomal abnormalities that were not previously reported in the HL-60 included an insertion of chromosome 8 in the q arm of chromosome 11, a translocation between chromosomes 9 and 14, and a translocation between chromosomes 14 and 15. In an attempt to define the loss of the 5q31.1 region in HL-60, we performed fluorescence in situ hybridization analysis by utilizing bacterial artificial chromosomes BAC1 and BAC2 that spanned the IL9 and EGR1 gene interval, which was previously shown to be a critical region of loss in AML. We showed that a copy of both BAC1 (spanning the D5S399 locus) and BAC2 (spanning the D5S393 locus centromeric to BAC1) were present in the normal chromosome 5, but a second copy of BAC1 was lost and a second copy of BAC2 was inserted in the der(16)t(7;16) chromosome. Thus, not only was this study the first to use the new 24-color karyotyping technique to identify several novel chromosomal rearrangements in HL-60, but it also narrowed the 5q31.1 critical region of deletion to the region represented by BAC1.
authors.affiliation: Section of Cytogenetics, University of Texas M. D. Anderson Cancer Center, Houston, USA.
authors.forename: J C
authors.initials: JC
authors.lastname: Liang
authors.forename: Y
authors.initials: Y
authors.lastname: Ning
authors.forename: R Y
authors.initials: RY
authors.lastname: Wang
authors.forename: H M
authors.initials: HM
authors.lastname: Padilla-Nash
authors.forename: E
authors.initials: E
authors.lastname: Schröck
authors.forename: D
authors.initials: D
authors.lastname: Soenksen
authors.forename: L
authors.initials: L
authors.lastname: Nagarajan
authors.forename: T
authors.initials: T
authors.lastname: Ried
mesh_terms: D002869:Chromosome Aberrations; D002885:Chromosomes, Human, Pair 16; D002895:Chromosomes, Human, Pair 5; D002897:Chromosomes, Human, Pair 7; D015321:Gene Rearrangement; D018922:HL-60 Cells / Q000502:physiology*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping / Q000379:methods*; D017384:Sequence Deletion; D014178:Translocation, Genetic