Construction of an ∼700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3
Construction of an ∼700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3
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DOI：
10.1101/gr.8.11.1172
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发表时间：
1998-11-01
期刊：
影响因子：
7
通讯作者：
Kastner, DL
中科院分区：
文献类型：
--
作者：
Centola, M;Chen, XG;Kastner, DL
我们结合使用 cDNA 选择、外显子扩增和基因组序列计算预测，从家族性地中海热 (FMF) 基因座周围的基因组 DNA 中分离转录序列。 D16S3370（显示与 FMF 高度连锁不平衡的标记）周围的 87 kb 基因组 DNA 已完成测序，并注释了序列。转录图谱反映了 FMF 基因座周围大约 700 kb 的基因组 DNA 中编码的最小数量的基因。该图谱由 27 个在北方人身上可检测到的离散信息基因组成，此外还有 3 个嗅觉受体基因、18 个 tRNA 基因簇和两个假定的转录单位，这些转录单位具有典型的内含子-外显子剪接连接，但在北方人身上未检测到信息。其中四个转录本与之前描述的基因相同，七个转录本已由法国 FMF 联盟独立鉴定，其他转录本是新颖的。六个相关的锌指基因、一簇 tRNA 和三个嗅觉受体占从 315 kb FMF 中心区域（D16S468/D16S3070 和粘粒 377A12 之间）分离的大部分转录序列。其中散布着一些可能对炎症很重要的基因。该转录图谱不仅能够鉴定FMF基因（MEFV），而且为我们提供了探索16号染色体该区域的结构和功能特征的机会。
We used a combination of cDNA selection, exon amplification, and computational prediction from genomic sequence to isolate transcribed sequences from genomic DNA surrounding the familial Mediterranean fever (FMF) locus. Eighty-seven kb of genomic DNA around D16S3370, a marker showing a high degree of linkage disequilibrium with FMF, was sequenced to completion, and the sequence annotated. A transcript map reflecting the minimal number of genes encoded within the similar to 700 kb of genomic DNA surrounding the FMF locus was assembled. This map consists of 27 genes with discreet messages detectable on Northerns, in addition to three olfactory-receptor genes, a cluster of 18 tRNA genes, and two putative transcriptional units that have typical intron-exon splice junctions yet do not detect messages on Northerns. Four of the transcripts are identical to genes described previously, seven have been independently identified by the French FMF Consortium, and the others are novel. Six related zinc-finger genes, a cluster of tRNAs, and three olfactory receptors account for the majority of transcribed sequences isolated from a 315-kb FMF central region (between D16S468/D16S3070 and cosmid 377A12). Interspersed among them are several genes that may be important in inflammation. This transcript map not only has permitted the identification of the FMF gene (MEFV), but also has provided us an opportunity to probe the structural and functional features of this region of chromosome 16.