Placing human gene families into their evolutionary context
Abstract 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 developme...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-11-01
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| Series: | Human Genomics |
| Online Access: | https://doi.org/10.1186/s40246-022-00429-5 |
| _version_ | 1797988424801583104 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Alex Dornburg |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-04-11T08:04:01Z |
| format | Article |
| id | doaj.art-b2a929c653014285bf3517f541c9b822 |
| institution | Directory Open Access Journal |
| issn | 1479-7364 |
| language | English |
| last_indexed | 2024-04-11T08:04:01Z |
| publishDate | 2022-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Human Genomics |
| spelling | doaj.art-b2a929c653014285bf3517f541c9b8222022-12-22T04:35:37ZengBMCHuman Genomics1479-73642022-11-0116112610.1186/s40246-022-00429-5Placing human gene families into their evolutionary contextAlex Dornburg0Rittika Mallik1Zheng Wang2Moisés A. Bernal3Brian Thompson4Elspeth A. Bruford5Daniel W. Nebert6Vasilis Vasiliou7Laurel R. Yohe8Jeffrey A. Yoder9Jeffrey P. Townsend10Department of Bioinformatics and Genomics, UNC-CharlotteDepartment of Bioinformatics and Genomics, UNC-CharlotteDepartment of Biostatistics, Yale School of Public HealthDepartment of Biological Sciences, College of Science and Mathematics, Auburn UniversityDepartment of Environmental Health Sciences, Yale School of Public HealthDepartment of Haematology, University of Cambridge School of Clinical MedicineDepartment of Environmental Health, Center for Environmental Genetics, University of Cincinnati Medical CenterDepartment of Environmental Health Sciences, Yale School of Public HealthDepartment of Bioinformatics and Genomics, UNC-CharlotteDepartment of Molecular Biomedical Sciences, College of Veterinary Medicine, North Carolina State UniversityDepartment of Bioinformatics and Genomics, UNC-CharlotteAbstract 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.https://doi.org/10.1186/s40246-022-00429-5 |
| spellingShingle | 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 Placing human gene families into their evolutionary context Human Genomics |
| title | Placing human gene families into their evolutionary context |
| title_full | Placing human gene families into their evolutionary context |
| title_fullStr | Placing human gene families into their evolutionary context |
| title_full_unstemmed | Placing human gene families into their evolutionary context |
| title_short | Placing human gene families into their evolutionary context |
| title_sort | placing human gene families into their evolutionary context |
| url | https://doi.org/10.1186/s40246-022-00429-5 |
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