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对 Kallmann综合征的基因(Adml-X，Xp22.3)和一个推定的新的 转录因子在HLAIII类区域(6p21.3)。 1)Kallmann综合征基因的鉴定。X-Linked 卡尔曼综合征(影响1/10000的男性)的定义是同时 GN-RH神经元迁移和神经束形成的缺陷 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， 一个67kb的重叠群，其中两个外显子总数小于450 通过计算机分析的组合来识别核苷酸 技巧。全长编码蛋白质序列的研究 Cdna揭示了纤维连接蛋白和抗蛋白酶的原始组装。 结构域，与其作为神经元靶向分子的作用一致。 2)分析人类白细胞抗原3类区90kb的重叠群。相同 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 可能是转录因子NFkB家族的新成员。

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. The X-linked Kallmann's syndrome (affecting 1/10000 male) is defined by simultaneous defects 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 (Institut Pasteur, Genethon) of a 67kb contig in which two exons totalling lesss than 450 nucleotides where identified by a combination of computer analysis techniques. The study of the protein sequence encoded by a full lenght 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.