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An Exon-Based Comparative Variant Analysis Pipeline to Study the Scale and Role of Frameshift and Nonsense Mutation in the Human-Chimpanzee Divergence
Author
Source
International Journal of Genomics
Issue
Vol. 2009, Issue 2009 (31 Dec. 2009), pp.1-19, 19 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2009-09-09
Country of Publication
Egypt
No. of Pages
19
Main Subjects
Abstract EN
Chimpanzees and humans are closely related but differ in many deadly human diseases and other characteristics in physiology, anatomy, and pathology.
In spite of decades of extensive research, crucial questions about the molecular mechanisms behind the differences are yet to be understood.
Here I report ExonVar, a novel computational pipeline for Exon-based human-chimpanzee comparative Variant analysis.
The objective is to comparatively analyze mutations specifically those that caused the frameshift and nonsense mutations and to assess their scale and potential impacts on human-chimpanzee divergence.
Genomewide analysis of human and chimpanzee exons with ExonVar identified a number of species-specific, exon-disrupting mutations in chimpanzees but much fewer in humans.
Many were found on genes involved in important biological processes such as T cell lineage development, the pathogenesis of inflammatory diseases, and antigen induced cell death.
A “less-is-more” model was previously established to illustrate the role of the gene inactivation and disruptions during human evolution.
Here this analysis suggested a different model where the chimpanzee-specific exon-disrupting mutations may act as additional evolutionary force that drove the human-chimpanzee divergence.
Finally, the analysis revealed a number of sequencing errors in the chimpanzee and human genome sequences and further illustrated that they could be corrected without resequencing.
American Psychological Association (APA)
Yu, GongXin. 2009. An Exon-Based Comparative Variant Analysis Pipeline to Study the Scale and Role of Frameshift and Nonsense Mutation in the Human-Chimpanzee Divergence. International Journal of Genomics،Vol. 2009, no. 2009, pp.1-19.
https://search.emarefa.net/detail/BIM-988523
Modern Language Association (MLA)
Yu, GongXin. An Exon-Based Comparative Variant Analysis Pipeline to Study the Scale and Role of Frameshift and Nonsense Mutation in the Human-Chimpanzee Divergence. International Journal of Genomics No. 2009 (2009), pp.1-19.
https://search.emarefa.net/detail/BIM-988523
American Medical Association (AMA)
Yu, GongXin. An Exon-Based Comparative Variant Analysis Pipeline to Study the Scale and Role of Frameshift and Nonsense Mutation in the Human-Chimpanzee Divergence. International Journal of Genomics. 2009. Vol. 2009, no. 2009, pp.1-19.
https://search.emarefa.net/detail/BIM-988523
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-988523