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Placing human gene families into their evolutionary context

Title: Placing human gene families into their evolutionary context
Authors: Alex Dornburg; Rittika Mallik; Zheng Wang; Moisés A. Bernal; Brian Thompson; Elspeth A. Bruford; Daniel W. Nebert; Vasilis Vasiliou; Laurel R. Yohe; Jeffrey A. Yoder; Jeffrey P. Townsend
Source: Human Genomics, Vol 16, Iss 1, Pp 1-26 (2022)
Publisher Information: BMC
Publication Year: 2022
Collection: Directory of Open Access Journals: DOAJ Articles
Subject Terms: Medicine; Genetics; QH426-470
Description: Following the draft sequence of the first human genome over 20 years ago, we have achieved unprecedented insights into the rules governing its evolution, often with direct translational relevance to specific diseases. However, staggering sequence complexity has also challenged the development of a more comprehensive understanding of human genome biology. In this context, interspecific genomic studies between humans and other animals have played a critical role in our efforts to decode human gene families. In this review, we focus on how the rapid surge of genome sequencing of both model and non-model organisms now provides a broader comparative framework poised to empower novel discoveries. We begin with a general overview of how comparative approaches are essential for understanding gene family evolution in the human genome, followed by a discussion of analyses of gene expression. We show how homology can provide insights into the genes and gene families associated with immune response, cancer biology, vision, chemosensation, and metabolism, by revealing similarity in processes among distant species. We then explain methodological tools that provide critical advances and show the limitations of common approaches. We conclude with a discussion of how these investigations position us to gain fundamental insights into the evolution of gene families among living organisms in general. We hope that our review catalyzes additional excitement and research on the emerging field of comparative genomics, while aiding the placement of the human genome into its existentially evolutionary context.
Document Type: article in journal/newspaper
Language: English
Relation: https://doi.org/10.1186/s40246-022-00429-5; https://doaj.org/toc/1479-7364; https://doaj.org/article/b2a929c653014285bf3517f541c9b822
DOI: 10.1186/s40246-022-00429-5
Availability: https://doi.org/10.1186/s40246-022-00429-5; https://doaj.org/article/b2a929c653014285bf3517f541c9b822
Accession Number: edsbas.AA85C3BC
Database: BASE