在WASH中迷失. 功能性人类WASH复合体1基因位于20号染色体上
Daniel Cerdán-Vélez1, Michael L Tress1
1Bioinformatics Unit, Spanish National Cancer Research Centre (CNIO).
bioRxiv : the preprint server for biology
|July 3, 2023
概括
端粒到端粒联盟在T2T-CHM13人类基因组组合中发现了一种新的功能性WASH1基因,LOC124908094. 大多数其他WASH1基因都是伪基因,包括之前注释的WASHC1.1.
科学领域:
- 基因组学就是基因组学.
- 分子生物学分子生物学
- 人类遗传学 人类遗传学
背景情况:
- 洗综合体对于启动内分体功能必不可少的分支性亚丁网络至关重要.
- 人类基因组参考 (GRCh38) 包含9个WASH1基因,它们的编码潜力和功能状态尚不清楚.
- 大多数WASH1基因所在的小结体下区域以前组装不良.
研究的目的:
- 为了澄清人类基因组中众多WASH1基因的功能状态.
- 为了确定功能性WASH1蛋白的真正编码基因.
- 评估新的Telomere-to-Telomere (T2T-CHM13) 人类基因组组件对基因注释的影响.
主要方法:
- 在不同的人类基因组组合中对WASH1基因序列的比较分析.
- 在T2T-CHM13组件中生物信息识别和表征新的WASH1对应物.
- 基于序列同质性和基因组位置的功能预测.
主要成果:
- 在T2T-CHM13组合中,WASH1的四个新对应物在以前未被注释的子端粒区域中被发现.
- LOC124908094被确定为最可能的功能性WASH1编码基因.
- 其他12个WASH1基因,包括先前注释的WASHC1,被确定来自单个伪基因 (WASH8P).
结论:
- 建议标注LOC124908094作为功能WASH1编码基因,并从WASHC1.1转移相关信息.
- 建议将WASHC1和其他已识别的WASH1基因重新归类为伪基因.
- 突出了T2T组合在发现以前组合中遗漏的功能相关基因方面的成功,并暗示了更多发现的潜力.
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