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

@article{Wattenhofer2001IsolationAC,
  title={Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains},
  author={Marie Wattenhofer and Kazunori Shibuya and Jun Kudoh and Robert Lyle and Joelle Michaud and Colette Rossier and Kazuhiko Kawasaki and Shuichi Asakawa and Shinsei Minoshima and Asher Berry and Batsheva Bonn{\'e}-Tamir and Nobuyoshi Shimizu and Stylianos E. Antonarakis and Hamish S. Scott},
  journal={Human Genetics},
  year={2001},
  volume={108},
  pages={140-147}
}
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… CONTINUE READING