UNIGE document Scientific Article
previous document  unige:9095  next document
add to browser collection
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.
Michaud, J.
Kawasaki, K.
Asakawa, S.
show hidden authors 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 TransducingAmino Acid SequenceBase SequenceChromosome MappingChromosomes, Human, Pair 21DNA PrimersDown Syndrome/geneticsHumansMolecular Sequence DataNuclear Proteins/chemistry/ geneticsPhenotypeRNA, Messenger/geneticsReverse Transcriptase Polymerase Chain ReactionSequence Homology, Amino Acid
Identifiers
PMID: 11281453
Full text
Structures
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. https://archive-ouverte.unige.ch/unige:9095

181 hits

0 download

Update

Deposited on : 2010-07-12

Export document
Format :
Citation style :