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

利用该集合分析了两个较大的人类基因组序列重叠群 程序(BLAST、XNU、XBLAST、EXON等)和数据库(NRDB、 GenInfo)在NCBI独家提供。这些研究已经导致了 Kallmann综合征(Adml-X，Xp22.3)基因的鉴定 在人类白细胞抗原III类区域发现一个新的转录因子 (6p21.3)。 1)X连锁Kallmann综合征基因的鉴定 综合征(影响1/10000的男性)是一种由同时存在的缺陷 GN-RH神经元的迁移及其在神经束中的分布 嗅觉神经元在大脑发育的早期。分子 遗传学分析导致了测序(巴斯德研究所，Genethon) 一个67kb的重叠群，其中有两个外显子，总长度小于450个核苷酸 其中通过计算机分析技术的组合来识别。这个 对全长cDNA编码的蛋白质序列的研究揭示了一个 纤维连接蛋白和抗蛋白酶结构域的原始组装，一致 其作为神经元靶向分子的作用。 2)人类白细胞抗原3类区90kb重叠群的分析 应用计算机技术相结合的方法对90kb的数据进行了分析 序列重叠群(CEPH/Genethon)。这一区域显示出异常密集的 Alu的聚集性，BAT2基因的基因组结构(25个外显子) 和一个NFkB转录家族的新成员 因素。这个项目将在结果公布后完成。

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.