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The 5q- syndrome is a myelodysplastic syndrome with the 5q deletion as the sole karyotypic abnormality. The human ATX1 homologue (HAH1), encodes a copper-binding protein with a role in antioxidant defence. We have mapped this gene to the 3 Mb critical region of gene loss of the 5q- syndrome within 5q32, flanked by the genes for ADRB2 and IL12B, using gene dosage analysis. Fine physical mapping of the HAH1 gene within this genomic interval was then performed by screening YAC and BAC contigs spanning the critical region of the 5q- syndrome using PCR amplification. The HAH1 gene maps immediately adjacent to the SPARC gene at 5q32, and is flanked by the genetic markers D5S1838 and D5S1419. The HAH1 gene is expressed in haematological tissues and plays a role in antioxidant defence. Antioxidant levels are low in most cancers and the importance of antioxidant enzymes in cancer genesis is well recognised. Genomic localisation, function and expression would suggest that the HAH1 gene represents a candidate gene for the 5q-syndrome.


Journal article


Hum Genet

Publication Date





127 - 129


Carrier Proteins, Cation Transport Proteins, Chromosome Mapping, Chromosomes, Artificial, Yeast, Chromosomes, Human, Pair 5, Contig Mapping, Gene Deletion, Gene Dosage, Genetic Markers, Humans, Metallochaperones, Models, Genetic, Molecular Chaperones, Myelodysplastic Syndromes, Osteonectin, Physical Chromosome Mapping