Human and mouse ISLR (immunoglobulin superfamily containing leucine-rich repeat) genes: Genomic structure and tissue expression

Akemi Nagasawa, Jun Kudoh, Setsuko Noda, Yukihiko Mashima, Alan Wright, Yoshihisa Oguchi, Nobuyoshi Shimizu

研究成果: Article査読

12 被引用数 (Scopus)

抄録

We have previously reported a transcript of the novel gene for human immunoglobulin superfamily containing leucine-rich repeat (ISLR). By additional screening of a human retina cDNA library, we isolated another type of transcript with a 5' UTR different from that of the previously reported type. Genomic sequencing of the ISLR gene revealed that these two types of transcripts, ISLR-1 and ISLR-2, originated from the same gene but are composed of different first exons. Because the entire open reading frame is contained in the second exon, these two transcripts produce the same protein. Radiation hybrid mapping linked the ISLR gene to AFM248yh1, which is in the critical region of Bardet-Biedl syndrome type 4 (BBS4) on chromosome 15. Sequence analysis of the ISLR gene in five BBS4 patients, however, showed no mutations, although a few polymorphic changes were detected. Cloning of the mouse homolog of ISLR (Islr) revealed that the predicted protein consists of 428 amino acids, 86% of which are identical to those of ISLR. The Islr gene was expressed in various mouse tissues, including retina, in which Islr mRNA was detected in the ganglion cell layer, the inner nuclear layer, and the inner segment of the photoreceptor.

本文言語English
ページ(範囲)37-43
ページ数7
ジャーナルGenomics
61
1
DOI
出版ステータスPublished - 1999 10月 1
外部発表はい

ASJC Scopus subject areas

  • 遺伝学

フィンガープリント

「Human and mouse ISLR (immunoglobulin superfamily containing leucine-rich repeat) genes: Genomic structure and tissue expression」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル