TY - JOUR
T1 - Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains
AU - Wattenhofer, M.
AU - Shibuya, K.
AU - Kudoh, J.
AU - Lyle, R.
AU - Michaud, J.
AU - Rossier, C.
AU - Kawasaki, K.
AU - Asakawa, S.
AU - Minoshima, S.
AU - Berry, A.
AU - Bonne-Tamir, B.
AU - Shimizu, N.
AU - Antonarakis, S. E.
AU - Scott, H. S.
N1 - Funding Information:
Acknowledgements The laboratory of S.E.A. is supported by grants 31.57149.99 from the Swiss FNRS, 98–3039 from the OFES/EU, and funds from the University and Cantonal Hospital of Geneva. The laboratory of B.B.-T. is supported in part by grant no. 1140115 from the Applebaum Foundation. The laboratory of N.S. thanks all members of the genomic sequencing team in the Laboratory of Genomic Medicine, Keio University School of Medicine for their contribution to this work, which was supported in part by a Fund for Human Genome Sequencing Project from the Japan Science and Technology Corporation (JST), Grants in Aid for Scientific Research on Priority Areas from the Ministry of Education, Science, Sports and Culture of Japan, Grants in Aid for Scientific Research, and a Fund for „Research for the Future“ Program from the Japan Society for the Promotion of Science (JSPS).
PY - 2001
Y1 - 2001
N2 - In order to identify candidate genes for Down syndrome phenotypes or monogenic disorders that map to human chromosome 21q22.3, we have used genomic sequence and expressed sequence tags mapping to an autosomal recessive deafness (DFNB10) 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 DFNB10.
AB - In order to identify candidate genes for Down syndrome phenotypes or monogenic disorders that map to human chromosome 21q22.3, we have used genomic sequence and expressed sequence tags mapping to an autosomal recessive deafness (DFNB10) 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 DFNB10.
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U2 - 10.1007/s004390000453
DO - 10.1007/s004390000453
M3 - Article
C2 - 11281453
AN - SCOPUS:17744387561
VL - 108
SP - 140
EP - 147
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 2
ER -