Evolutionary conservation and disease gene association of the human genes composing pseudogenes

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• 作者：Kamalika Sen ^{kamlika@boseinst.ernet.in} ; Tapash Chandra Ghosh ; ^{tapash@boseinst.ernet.in}
• 关键词：GW蠄 genes ; Genes With Pseudogenes ; GL蠄 genes ; Genes Lacking Pseudogenes ; DGW蠄 genes ; Disease genes in Genes With Pseudogenes ; DGL蠄 genes ; Disease genes in Genes Lacking Pseudogenes
• 刊名：Gene
• 出版年：2012
• 期刊代码：73_03781119
• 类别：bio
• 出版时间：15 June, 2012
• 卷：501
• 期：2
• 页码：164-170
• 文件大小：456 K

摘要

Pseudogenes, the 鈥榞enomic fossils鈥?present portrayal of evolutionary history of human genome. The human genes configuring pseudogenes are also now coming forth as important resources in the study of human protein evolution. In this communication, we explored evolutionary conservation of the genes forming pseudogenes over the genes lacking any pseudogene and delving deeper, we probed an evolutionary rate difference between the disease genes in the two groups. We illustrated this differential evolutionary pattern by gene expressivity, number of regulatory miRNA targeting per gene, abundance of protein complex forming genes and lesser percentage of protein intrinsic disorderness. Furthermore, pseudogenes are observed to harbor sequence variations, over their entirety, those become degenerative disease-causing mutations though the disease involvement of their progenitors is still unexplored. Here, we unveiled an immense association of disease genes in the genes casting pseudogenes in human. We interpreted the issue by disease associated miRNA targeting, genes containing polymorphisms in miRNA target sites, abundance of genes having disease causing non-synonymous mutations, disease gene specific network properties, presence of genes having repeat regions, affluence of dosage sensitive genes and the presence of intrinsically unstructured protein regions.