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 language | English |
|---|---|
| Pages (from-to) | 140-147 |
| Number of pages | 8 |
| Journal | Human Genetics |
| Volume | 108 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 2001 |
| Externally published | Yes |
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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 journal › Article
}
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, Kazunori
AU - Kudo, Jun
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.
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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UR - http://www.scopus.com/inward/citedby.url?scp=17744387561&partnerID=8YFLogxK
U2 - 10.1007/s004390000453
DO - 10.1007/s004390000453
M3 - Article
VL - 108
SP - 140
EP - 147
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 2
ER -