title: Cloning and characterization of novel gene, DCRR1, expressed from Down's syndrome critical region of human chromosome 21q22.2.
abstract: The new gene, DCRR1, from the proximal part of the Down's syndrome critical region (DCR) was identified by the GRAIL analysis of the 97-kb nucleotide sequence of two P1 DNAs and the cDNA for DCRR1 gene was cloned. A 7.36-kb cDNA encodes the imcompleted open reading frame composed of 1941 amino acid residues (220.2 kDa). The deduced amino acid sequence contains the conserved domain for protein phosphatases at the N-terminus. The domain encoding the rod-like tail of a myosin heavy chain was also found near the C-terminal region besides the signature for an actin binding protein, profilin, suggesting its possible role as a microtuble-associated protein. Two different sizes (7.9 and 9.0 kb) of mRNAs were detected in the poly(A)+ RNA from abundant tissues by the Northern analysis. The smaller transcript was only transcribed at a high level in the testis. The imbalance of the DCRR1 gene dosage may contibute to the pathogenesis of Down's syndrome.
authors.affiliation: Cellular Physiology Laboratory, Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), Ibaraki, Japan. eki@rtc.riken.go.jp
authors.forename: T
authors.initials: T
authors.lastname: Eki
authors.forename: M
authors.initials: M
authors.lastname: Abe
authors.forename: M
authors.initials: M
authors.lastname: Naitou
authors.forename: S I
authors.initials: SI
authors.lastname: Sasanuma
authors.forename: J
authors.initials: J
authors.lastname: Nohata
authors.forename: K
authors.initials: K
authors.lastname: Kawashima
authors.forename: I
authors.initials: I
authors.lastname: Ahmad
authors.forename: F
authors.initials: F
authors.lastname: Hanaoka
authors.forename: Y
authors.initials: Y
authors.lastname: Murakami
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D015152:Blotting, Northern; D002891:Chromosomes, Human, Pair 21; D003001:Cloning, Molecular; D018076:DNA, Complementary; D004314:Down Syndrome / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D012333:RNA, Messenger; D017421:Sequence Analysis; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution; D044767:Ubiquitin-Protein Ligases
chemical_list: D018076:DNA, Complementary; D011506:Proteins; D012333:RNA, Messenger; C108062:TTC3 protein, human; D044767:Ubiquitin-Protein Ligases