Cerdán-Vélez Daniel, Tress Michael Liam
Bioinformatics Unit, Spanish National Cancer Research Centre (CNIO), Madrid 28029, Spain.
Bioinform Adv. 2024 Feb 28;4(1):vbae029. doi: 10.1093/bioadv/vbae029. eCollection 2024.
The recently published T2T-CHM13 reference assembly completed the annotation of the final 8% of the human genome. It introduced 1956 genes, close to 100 of which are predicted to be coding because they have a protein coding parent gene. Here, we confirm the coding status and functional relevance of two of these genes, paralogues of and . We find that , one of four novel subtelomeric WASH1 genes uncovered in the new assembly, produces the WASH1 protein that forms part of the vital actin-regulatory WASH complex. Its coding status is supported by abundant proteomics, conservation, and cDNA evidence. It was previously assumed that gene produced the functional WASH1 protein, but new evidence shows that is a human-derived duplication and likely to be one of 12 WASH1 pseudogenes in the human gene set. We also find that the T2T-CHM13 assembly has added a functionally important copy of to the human gene set. We demonstrate that uniquely mapping peptides from proteomics databases support the novel rather than the GRCh38 assembly gene. These new additions to the set of human coding genes underlines the importance of the new T2T-CHM13 assembly.
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最近发布的T2T-CHM13参考基因组完成了人类基因组最后8%的注释。它引入了1956个基因，其中近100个预计为编码基因，因为它们有一个蛋白质编码亲本基因。在此，我们证实了其中两个基因（ 和 的旁系同源基因）的编码状态和功能相关性。我们发现，新组装中发现的四个新型亚端粒WASH1基因之一的 ，产生形成重要肌动蛋白调节WASH复合物一部分的WASH1蛋白。其编码状态得到了丰富的蛋白质组学、保守性和cDNA证据的支持。以前认为 基因产生功能性WASH1蛋白，但新证据表明 是一个人类衍生的重复基因，可能是人类基因集中12个WASH1假基因之一。我们还发现，T2T-CHM13组装向人类基因集添加了一个功能重要的 拷贝。我们证明，来自蛋白质组学数据库的唯一映射肽支持新型的 而不是GRCh38组装的 基因。人类编码基因集的这些新增加强调了新的T2T-CHM13组装的重要性。
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