Physical mapping of the MEGF1 gene, human homologue of the Drosophila tumour suppressor gene fat, to the critical region of the 5q-syndrome

Introduction The 5q-syndrome is a myelodysplastic syndrome with the 5q deletion as the sole karyotypic abnormality. The MEGF1 gene is the human homologue of the Drosophilafat tumour suppressor gene.

Results We have mapped this gene to the 3 Mb critical region of the 5q-syndrome within 5q31–32, using gene dosage analysis. Fine physical mapping of the MEGF1 gene within this genomic interval was then performed by screening YAC and BAC contigs spanning the critical region using PCR amplification. The MEGF1 gene maps between the genes for SPARC and Annexin-6 at 5q32, and is flanked by the genetic markers D5S2146 and D5S2077. We have demonstrated the expression of MEGF1 in a range of haematological tissues using RT-PCR analysis.

Discussion Genomic localization, expression and predicted function would suggest that the MEGF1 gene represents a candidate gene for the 5q-syndrome.