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Blood, 15 June 2002, Vol. 99, No. 12, pp. 4638-4641
BRIEF REPORT
Narrowing and genomic annotation of the commonly deleted
region of the 5q syndrome
Jacqueline Boultwood,
Carrie Fidler,
Amanda J. Strickson,
Fiona Watkins,
Susana Gama,
Lyndal Kearney,
Sabrina Tosi,
Arek Kasprzyk,
Jan-Fang Cheng,
Rina J. Jaju, and
James S. Wainscoat
From the Leukaemia Research Fund Molecular Haematology
Unit, Nuffield Department of Clinical Laboratory Science, and the MRC
Molecular Haematology Unit, Institute of Molecular Medicine, University
of Oxford, John Radcliffe Hospital, Oxford, United Kingdom; European
Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge,
United Kingdom; and the Lawrence Berkeley National Laboratory,
Berkeley, CA.
The 5q syndrome is the most distinct of the myelodysplastic
syndromes, and the molecular basis for this disorder remains unknown. We describe the narrowing of the common deleted
region (CDR) of the 5q syndrome to the approximately
1.5-megabases interval at 5q32 flanked by D5S413 and the
GLRA1 gene. The Ensembl gene prediction program has been
used for the complete genomic annotation of the CDR. The CDR is gene
rich and contains 24 known genes and 16 novel (predicted) genes. Of 40 genes in the CDR, 33 are expressed in CD34+ cells
and, therefore, represent candidate genes since they are expressed
within the hematopoietic stem/progenitor cell compartment. A number of
the genes assigned to the CDR represent good candidates for the 5q
syndrome, including MEGF1, G3BP, and several of
the novel gene predictions. These data now afford a comprehensive mutational/expression analysis of all candidate genes assigned to the CDR.
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