Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein

Joëlle Michaud, Jun Kudoh, Asher Berry, Batsheva Bonne-Tamir, Maria D. Lalioti, Colette Rossier, Kazunori Shibuya, Kazuhiko Kawasaki, Shuichi Asakawa, Shinsei Minoshima, Nobuyoshi Shimizu, Stylianos E. Antonarakis*, Hamish S. Scott

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)71-79
Number of pages9
Issue number1
StatePublished - 15 Aug 2000


FundersFunder number
Swiss FNRS98-3039
University and Cantonal Hospital of Geneva1140115
Applebaum Foundation
Japan Society for the Promotion of Science
Japan Science and Technology Corporation
Ministry of Education, Culture, Sports, Science and Technology
Japan Science and Technology Agency
School of Medicine, Keio University


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