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Genomic organization and complete nucleotide sequence of the human PWP2 gene on chromosome 21

  • Kentaro Nagamine
  • , Jun Kudoh
  • , Shinsei Minoshima
  • , Kazuhiko Kawasaki
  • , Shuichi Asakawa
  • , Fumiaki Ito
  • , Nobuyoshi Shimizu

研究成果: Article査読

抄録

The human PWP2 gene is the human homologue of the yeast periodic tryptophan protein 2 (PWP2) gene and is a member of the gene family that contains tryptophan-aspartate (WD) repeats. Genomic sequencing revealed that the human PWP2 gene consists of 21 exons spanning approximately 24 kb and locates just between the two genes EHOC-1 and KNP-I and distal to a NotI site of LJ104 (D21S1460) on chromosome 21q22.3. Analysis of the 5'-flanking DNA sequence revealed that the upstream region of the PWP2 gene is associated with a CpG island containing the NotI site of LJ104. Since PWP2 is considered to be a candidate for genetic disorders mapped in the 21q22.3 region, the information including nucleotide sequence and genomic organization of the PWP2 gene should be invaluable for the mutation analysis of the corresponding genetic disorders.

本文言語English
ページ(範囲)528-531
ページ数4
ジャーナルGenomics
42
3
DOI
出版ステータスPublished - 1997 6月 15
外部発表はい

ASJC Scopus subject areas

  • 遺伝学

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