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人类染色体11的DNA序列和分析,包括新型基因鉴定

Todd D Taylor¹, Hideki Noguchi, Yasushi Totoki

¹RIKEN Genomic Sciences Center, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan. taylor@gsc.riken.jp

|March 24, 2006

概括

染色体11富含基因和疾病,拥有超过1500个蛋白质编码基因和众多嗅觉受体. 这项研究提供了全面的数据,以了解与该染色体相关的86种未知疾病的遗传基础.

科学领域:

基因组学就是基因组学.
人类遗传学人类遗传学
分子生物学分子生物学

背景情况:

染色体11富含基因和疾病,含有很大一部分人类基因和相关疾病.
嗅觉受体基因在11号染色体上高度聚集,超过40%的人类基因组总数位于这里.
许多与11号染色体相关的疾病 (86) 缺乏已识别的分子遗传基础.

研究的目的:

为11号染色体提供高质量的基因组数据.
为了解11号染色体相关疾病的遗传基础提供基础.
为了促进对该染色体上未知分子原因的86种疾病的研究.

主要方法:

染色体11的综合基因注释.
对基因密度和伪基因含量的分析.
嗅觉受体基因集群的映射.
测序和数据呈现,覆盖99.8%的圣色区域.

主要成果:

染色体11包含1524个编码蛋白质的基因和765个假基因,平均基因密度为每兆基因11.6个基因.
超过40%的人类嗅觉受体基因位于11号染色体上,分为28个不同的集群.
提供了详细的基因组数据,涵盖了近1345万个基因对的euchromatic序列.

结论:

提出的11号染色体的高质量数据是遗传研究的关键资源.
这种资源将有助于识别众多孟德尔特征,癌症和易感位置的分子基础.
进一步了解11号染色体的遗传环境对于推进人类健康和疾病研究至关重要.

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