Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0393754 (HSA)
 2,996 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Bovine X hamster hybrid somatic cells have been used to investigate the syntenic relationship of nine loci in the bovine that have homologous loci on human chromosome 9. Six loci, ALDH1, ALDOB, C5, GGTB2, GSN, and ITIL, were assigned to the previously identified bovine syntenic group U18 represented by ACO1, whereas the other three loci, ABL, ASS, and GRP78, mapped to a new, previously unidentified autosomal syntenic group. Additionally, a secondary locus, ABLL, which cross-hybridized with the ABL probe, was mapped to bovine syntenic group U1 with the HSA 1 loci PGD and ENO1. The results predict that ACO1 will map proximal to ALDH1; GRP78 distal to ITIL and C5; GSN proximal to AK1, ABL, and ASS on HSA 9; GRP78 to MMU 2; and ITIL and GSN to MMU 4.
 ...
PMID:Syntenic conservation between humans and cattle. I. Human chromosome 9. 208 96

Cells of blood and bone marrow often exhibit a genome- or ploidywise organization of the two haploid sets, representing apparently maternal and paternal chromosomes in interphase nuclei and in metaphase spreads. This provides the opportunity to perform "genomic karyotyping." Such application of karyotyping may indicate whether two chromosomes involved in a translocation are both maternal, both paternal, or intermingled, i.e., one maternal and the other paternal (we refer to this as mixed). The parental origin for these translocations likely has profound differences and implications in disease expression and response to treatments, making such information very important to personalized medicine. In this mini-review, we present our observations from specimens with translocations BCR-ABL, t(9;22) and PML-RARA, t(15;17). About 20% metaphases of these specimens indicated ploidywise organization and were amenable to genomic karyotyping analysis. Fluorescence in situ hybridization (FISH) probes for BCR-ABL translocation suggest a close approximation of the HSA 9 and 22, as control values for false-positive signals run from approximately 5-10%. Given a ploidywise distribution of the maternal and paternal sets of chromosomes, it would be expected that the chromosomes involved in the translocation t(9;22) would more often belong to one of the two genomes, either maternal or paternal. Contrastingly, HSA 15 and 17 are not considered as spatially close to each other and therefore an intragenomic involvement would be rarer for translocation t(15;17). In 14 out of the 21 (66.6%) specimens with informative metaphases, the chromosomes involved in the translocation BCR-ABL were restricted to one of the two genomes--either maternal or paternal. In cases of translocation PML-RARA only 4 out of 21 (19.1%) specimens indicated an intragenomic involvement. These simple yet informative analyses of cancer-related translocations show profound underlying genomic origins and lend support to genomic karyotyping.
 ...
PMID:Identification of parental chromosomes involved in translocations BCR-ABL, t(9;22) and PML-RARA, t(15;17). 1918 37