TY - JOUR
T1 - Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein
AU - Michaud, Joëlle
AU - Kudoh, Jun
AU - Berry, Asher
AU - Bonne-Tamir, Batsheva
AU - Lalioti, Maria D.
AU - Rossier, Colette
AU - Shibuya, Kazunori
AU - Kawasaki, Kazuhiko
AU - Asakawa, Shuichi
AU - Minoshima, Shinsei
AU - Shimizu, Nobuyoshi
AU - Antonarakis, Stylianos E.
AU - Scott, Hamish S.
N1 - Funding Information:
The laboratory of S.E.A. is supported by Grants 31.40500.94 and 31.57149.99 from the Swiss FNRS, 98-3039 from the OFES/EU, and funds from the University and Cantonal Hospital of Geneva. The laboratory of B.B-T. is supported in part by Grant 1140115 from the Applebaum Foundation. Personnel from the laboratory of N.S. thank all members of the genomic sequencing team in the Laboratory of Genomic Medicine, Keio University School of Medicine, for their contribution to this work, which was supported in part by a Fund for the Human Genome Sequencing Project from the Japan Science and Technology Corp. (JST); Grants in Aid for Scientific Research on Priority Areas from the Ministry of Education, Science, Sports, and Culture of Japan; and Grants in Aid for Scientific Research and a Fund for “Research for the Future” Program from the Japan Society for the Promotion of Science (JSPS).
PY - 2000/8/15
Y1 - 2000/8/15
N2 - To identify candidate genes for Down syndrome phenotypes or disorders that map to human chromosome 21q22.3, trapped exons are being used to isolate full-length transcripts. We isolated a full-length cDNA (WDR4) encoding a novel WD-repeat protein and its mouse homologue. Two RNA species of 1.5 and 2.1 kb were observed in human, with the 1.5-kb transcript being produced by a splicing event after the stop codon, and thus both transcripts encode the same putative 412-amino-acid protein containing four guanine nucleotide-binding WD repeats. The more highly expressed 1.5-kb transcript was expressed mainly in fetal tissues while the 2.1-kb transcript showed a faint expression in most tissues. Two additional alternative splicing events of 270 and 52 nt within the coding region were observed. The WDR4 gene spans 37 kb and is divided into 11 coding exons. WDR4 maps between PDE9A and NDUFV3, a region where several genetic disorders, including a form of manic-depressive psychosis, also map, and seven sequence variants observed in the WDR4 gene could be used in association studies. (C) 2000 Academic Press.
AB - To identify candidate genes for Down syndrome phenotypes or disorders that map to human chromosome 21q22.3, trapped exons are being used to isolate full-length transcripts. We isolated a full-length cDNA (WDR4) encoding a novel WD-repeat protein and its mouse homologue. Two RNA species of 1.5 and 2.1 kb were observed in human, with the 1.5-kb transcript being produced by a splicing event after the stop codon, and thus both transcripts encode the same putative 412-amino-acid protein containing four guanine nucleotide-binding WD repeats. The more highly expressed 1.5-kb transcript was expressed mainly in fetal tissues while the 2.1-kb transcript showed a faint expression in most tissues. Two additional alternative splicing events of 270 and 52 nt within the coding region were observed. The WDR4 gene spans 37 kb and is divided into 11 coding exons. WDR4 maps between PDE9A and NDUFV3, a region where several genetic disorders, including a form of manic-depressive psychosis, also map, and seven sequence variants observed in the WDR4 gene could be used in association studies. (C) 2000 Academic Press.
UR - https://www.scopus.com/pages/publications/0034662760
UR - https://www.scopus.com/pages/publications/0034662760#tab=citedBy
U2 - 10.1006/geno.2000.6258
DO - 10.1006/geno.2000.6258
M3 - Article
C2 - 10950928
AN - SCOPUS:0034662760
SN - 0888-7543
VL - 68
SP - 71
EP - 79
JO - Genomics
JF - Genomics
IS - 1
ER -