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We have identified a novel mouse gene encoding a protein that shows high homology to the dual-specificity tyrosine/threonine phosphatase family of proteins. The gene encodes a 5 kb transcript which is expressed predominantly in brain and lung and contains a translated complex trinucleotide repeat within the coding region. Using interspecific mouse backcross analysis, the gene has been localised to distal mouse chromosome 7. In human, homologous sequences are located in the syntenic region on distal chromosome 11p as well as to chromosome 10q11.2 and 10q22. The presence of a CG-rich trinucleotide repeat in the coding region provides a target for mutation which might result in loss of function or altered properties of this phosphatase.

Original publication

DOI

10.1093/hmg/5.5.675

Type

Journal article

Journal

Hum Mol Genet

Publication Date

05/1996

Volume

5

Pages

675 - 684

Keywords

Amino Acid Sequence, Animals, Base Sequence, Blotting, Northern, Brain Chemistry, Chromosomes, Human, Pair 10, Chromosomes, Human, Pair 11, DNA, Complementary, Humans, In Situ Hybridization, Fluorescence, Mice, Microinjections, Molecular Sequence Data, Open Reading Frames, Protein Biosynthesis, Protein Tyrosine Phosphatases, RNA, Messenger, Sequence Homology, Amino Acid, Sequence Homology, Nucleic Acid, Signal Transduction, Subcellular Fractions, Transcription, Genetic, Transfection, Trinucleotide Repeats