Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains
- Author(s)
- Wattenhofer, M; Shibuya, K; Kudoh, J; Lyle, R; Michaud, J; Rossier, C; Kawasaki, K; Asakawa, S; Minoshima, S; Berry, A; Bonne-Tamir, B; Shimizu, N; Antonarakis, SE; Scott, HS;
- Details
- Publication Year 2001-02,Volume 108,Issue #2,Page 140-147
- Journal Title
- HUMAN GENETICS
- Publication Type
- Journal Article
- Abstract
- In order to identify candidate genes for Down syndrome phenotypes of monogenic disorders that map to human chromosome 21q22.3, we have used genomic sequence and expressed sequence tags mapping to an autosomal recessive deafness (DFNB 10) critical region to isolate a novel 2.5-kb cDNA that maps between TFF1 and D21S49. A semi-quantitative reverse transcription/polymerase chain reaction method revealed that UBASH3A gene expression is limited to only a few tissues, with its highest expression in spleen, peripheral blood leukocytes, and bone marrow. The putative 661-amino-acid protein shows considerable homology to a hypothetical protein from Drosophila melanogaster but only domain homologies to other organisms. Both the human and D. melanogaster proteins contain protein-protein interaction domains, viz., SH3 and ubiquitin-associated (UBA) domains, in addition to a novel domain also containing a nuclear localization signal. This is the first protein described containing both UBA and SH3 domains. The gene, thus called UBASH3A, spans 40 kb and is divided into 15 exons. Mutation analysis excluded UBASH3A as being responsible for DFNB 10.
- Publisher
- SPRINGER-VERLAG
- Keywords
- BIPOLAR AFFECTIVE-DISORDER; DROSOPHILA WHITE GENE; CHROMOSOME 21Q22.3; GENOMIC STRUCTURE; SEQUENCE-ANALYSIS; LINKAGE ANALYSIS; DOWN-SYNDROME; UBA DOMAIN; SH3 DOMAIN; LOCUS
- Publisher's Version
- https://doi.org/10.1007/s004390000453
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2001-02-01 12:00:00