Journal
GENOMICS
Volume 65, Issue 1, Pages 44-52Publisher
ACADEMIC PRESS INC
DOI: 10.1006/geno.2000.6148
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Funding
- NCI NIH HHS [CA 79849] Funding Source: Medline
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The ubiquitin-specific proteases (UBP) are a family of enzymes that cleave ubiquitin from ubiquitinated protein substrates. We have recently cloned UBP43, a novel member of this family from ARL1-ETO knock-in mice. To analyze the role of UBP43 in hematopoiesis and leukemogenesis, we have cloned a full-length human UBP43 cDNA by screening a human monocytic cDNA Library as well as by 5'- and 3'-rapid amplification of cDNA ends analyses. This cDNA encodes a poly-peptide of 372 amino acids with all of the structural motifs of a deubiquitinating enzyme. The human UBP43 mRNA is strongly expressed in human liver and thymus. Transfection analysis has demonstrated that UBP43 is a nuclear protein. interestingly, the gene encoding human UBP43 maps to chromosome 22q11.2. This region, known as DiGeorge syndrome critical region, contains a minimal area of 2 Mb and is consistently deleted in DiGeorge syndrome and related, disorders. The syndrome is marked by thymic aplasia or hypoplasia, parathyroid hypoplasia, or congenital cardiac abnormalities. Taken together, our results broaden the understanding of a nem human uitin-specific protease, UBP43, and suggest that this gene may also be related to DiGeorge syndrome. (C) 2000 Academic Press.
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