Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains

Wattenhofer, M.; Shibuya, K.; Kudoh, J.; Lyle, Robert; Michaud, J.; Rossier, Colette; Kawasaki, K.; Asakawa, S.; Minoshima, S.; Berry, A.; Bonne-Tamir, B.; Shimizu, N.; Antonarakis, Stylianos; Scott, Hamish Steele

doi:10.1007/s004390000453

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Title		Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains
Authors		Wattenhofer, M. Shibuya, K. Kudoh, J. Lyle, Robert Michaud, J. Rossier, Colette Kawasaki, K. Asakawa, S. Minoshima, S. Berry, A. Bonne-Tamir, B. Shimizu, N. Antonarakis, Stylianos Scott, Hamish Steele show all authors [1 - 14]
Published in		Human Genetics. 2001, vol. 108, no. 2, p. 140-147
Abstract		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.
Keywords		Adaptor Proteins, Signal Transducing — Amino Acid Sequence — Base Sequence — Chromosome Mapping — Chromosomes, Human, Pair 21 — DNA Primers — Down Syndrome/genetics — Humans — Molecular Sequence Data — Nuclear Proteins/chemistry/ genetics — Phenotype — RNA, Messenger/genetics — Reverse Transcriptase Polymerase Chain Reaction — Sequence Homology, Amino Acid
Identifiers		DOI: 10.1007/s004390000453 PMID: 11281453
Full text		Article - Limited access to UNIGE Other version: http://www.springerlink.com/content/d2p17fjlcdexhcdy/fulltext.pdf
Structures		Faculté de médecine / Section de médecine clinique / Département de médecine
Citation (ISO format)		WATTENHOFER, M. et al. Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains. In: Human Genetics, 2001, vol. 108, n° 2, p. 140-147. doi: 10.1007/s004390000453 https://archive-ouverte.unige.ch/unige:9095