KALLMANN'S SYNDROME GENE (XP22) AND NEW GENES IN THE HLA CLASS III REGION (6P21)

卡尔曼综合征基因 (XP22) 和 HLA III 类区域的新基因 (6P21)

• 批准号: 3759298
• 负责人: J M CLAVERIE
• 金额: --
• 依托单位: NATIONAL LIBRARY OF MEDICINE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/3759298
• 关键词: Kallmann's syndrome; computer assisted sequence analysis; computer program /software; genome; histocompatibility gene; human genetic material tag; nucleic acid sequence; protein sequence; sex chromosomes; transcription factor

Two large human genomic sequence contigs have been analyzed with the set of programs (BLAST, XNU, Xblast, EXON, etc) and databanks (NRDB, Geninfo)uniquely available at NCBI. Those studies have lead to the identification of the gene for Kallmann's syndrome (ADML-X, Xp22.3) and of a putative new transcription factor in the HLA class III region (6p21.3). 1) Identification of the Kallmann's syndrome gene X-linked Kallmann's syndrome (affecting 1/10000 male) is a defined by simultaneous defect in the migration of GN-RH neurones and in the fasciculation of the olfactory neurones during the early development of the brain. Molecular genetics analysis led to the sequencing (Institute Pasteur, Genethon) of a 67kb contig in which two exons totalling less than 450 nucleotides where identified by a combination of computer analysis techniques. The study of the protein sequence encoded by a full length cDNA revealed an original assembly of fibronectin and anti-protease domains, consistent with its role as a neurone targeting molecule. 2) Analysis of a 90kb contig in the HLA class 3 region The same combination of computer technique was applied to the analysis of a 90 kb sequence contig (CEPH/Genethon). This region revealed an unusually dense clustering of Alu , the genomic structure of the Bat2 gene (25 exons) and a putative new member of the NFkB family of transcription factors.This project will be complete after publication of the results.

两个大的人类基因组序列重叠群已被分析与设置 程序（BLAST，XNU，Xblast，EXON等）和数据库（NRDB， Geninfo）在NCBI唯一可获得。这些研究导致了 Kallmann综合征基因（ADML-X，Xp22.3）的鉴定， HLA III类区域中一种假定的新转录因子 （6页21.3）。 1)Kallmann综合征X连锁基因的鉴定 综合征（影响1/10000男性）定义为同时存在以下缺陷： GN-RH神经元的迁移和 嗅觉神经元在大脑的早期发育。分子 遗传学分析导致测序（巴斯德研究所，Genethon） 一个67 kb的重叠群，其中两个外显子总共少于450个核苷酸 其中通过计算机分析技术的组合来识别。的 对全长cDNA编码的蛋白质序列的研究显示， 纤连蛋白和抗蛋白酶结构域的原始组装， 作为一种神经元靶向分子。 2)HLA 3类区域中90 kb重叠群的分析 结合计算机技术，对一个90 kb 序列重叠群（CEPH/Genethon）。这一区域显示出异常密集的 Bat 2基因（25个外显子）的基因组结构Alu的聚类 和转录NFkB家族的一个假定的新成员 该项目将在结果公布后完成。