The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2

被引：29

作者：

Koyama, K

Fukushima, Y

Inazawa, J

Tomotsune, D

Takahashi, N

Nakamura, Y

机构：

[1] UNIV TOKYO, INST MED SCI, MOLEC MED LAB, MINATO KU, TOKYO 108, JAPAN

[2] INST CANC RES, DEPT BIOCHEM, TOKYO, JAPAN

[3] SAITAMA CHILDRENS MED CTR, DIV MED GENET, IWATSUKI, SAITAMA, JAPAN

[4] KYOTO PREFECTURAL UNIV MED, DEPT HYG, KYOTO 602, JAPAN

[5] OSAKA UNIV, INST MOLEC & CELLULAR BIOL, SUITA, OSAKA 565, JAPAN

来源：

CYTOGENETICS AND CELL GENETICS | 1996年 / 72卷 / 01期

关键词：

D O I：

10.1159/000134167

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

We have isolated and characterized the human homologue of the murine Llglh gene, which was originally isolated as a homologue of a Drosophila tumor suppressor gene 1(2)gl (lethal(2) giant larvae). In the mouse, Llglh is thought to play an important role during brain development as a regulatory target of Hoxc8. The human homologue of Llglh (LLGL) encodes a protein consisting of 1,033 amino acids. This gene was mapped by fluorescence in situ hybridization (FISH) to human chromosome 17p11.2, a region that is typically deleted in patients with Smith-Magenis syndrome (SMS). In our FISH analysis of metaphase chromosomes of four SMS patients, a probe representing LLGL failed in each case to hybridize to one of the two chromosome 17 homologues, indicating that this gene may play a role in the pathogenesis of SMS.

引用

页码：78 / 82

页数：5

共 18 条

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