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

M. Wattenhofer, Kazunori Shibuya, Jun Kudo, R. Lyle, J. Michaud, C. Rossier, K. Kawasaki, S. Asakawa, S. Minoshima, A. Berry, B. Bonne-Tamir, N. Shimizu, S. E. Antonarakis, H. S. Scott

Research output: Contribution to journalArticle

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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.

Original languageEnglish
Pages (from-to)140-147
Number of pages8
JournalHuman Genetics
Volume108
Issue number2
DOIs
Publication statusPublished - 2001
Externally publishedYes

Fingerprint

Drosophila Proteins
Nuclear Proteins
Ubiquitin
Protein Interaction Domains and Motifs
Nuclear Localization Signals
src Homology Domains
Expressed Sequence Tags
Human Chromosomes
Down Syndrome
Genes
Reverse Transcription
Exons
Proteins
Leukocytes
Spleen
Complementary DNA
Bone Marrow
Phenotype
Gene Expression
Amino Acids

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains. / Wattenhofer, M.; Shibuya, Kazunori; Kudo, Jun; Lyle, R.; Michaud, J.; Rossier, C.; Kawasaki, K.; Asakawa, S.; Minoshima, S.; Berry, A.; Bonne-Tamir, B.; Shimizu, N.; Antonarakis, S. E.; Scott, H. S.

In: Human Genetics, Vol. 108, No. 2, 2001, p. 140-147.

Research output: Contribution to journalArticle

Wattenhofer, M, Shibuya, K, Kudo, J, Lyle, R, Michaud, J, Rossier, C, Kawasaki, K, Asakawa, S, Minoshima, S, Berry, A, Bonne-Tamir, B, Shimizu, N, Antonarakis, SE & Scott, HS 2001, 'Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains', Human Genetics, vol. 108, no. 2, pp. 140-147. https://doi.org/10.1007/s004390000453
Wattenhofer, M. ; Shibuya, Kazunori ; Kudo, Jun ; Lyle, R. ; Michaud, J. ; Rossier, C. ; Kawasaki, K. ; Asakawa, S. ; Minoshima, S. ; Berry, A. ; Bonne-Tamir, B. ; Shimizu, N. ; Antonarakis, S. E. ; Scott, H. S. / 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, No. 2. pp. 140-147.
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