Analysis Of Human Genetic Variation In Candidate Genes Ander Positive Selections On The Human Linage
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Analysis Of Human Genetic Variation In Candidate Genes Ander Positive Selections On The Human Linage
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Author :
language : en
Publisher:
Release Date : 2004
Analysis Of Human Genetic Variation In Candidate Genes Ander Positive Selections On The Human Linage written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2004 with categories.
Natural selection has played an important role in shaping human genetic variation, thus, finding variants that have been targeted by positive selection can provide insights about which genes influence human phenotypic variability. In this work we conduct a genome-wide survey of protein-coding genes comparing humans, chimpanzees, and closely related species in order to detect the fraction of genes undergoing positive selection on the human lineage, and further investigate intraspecific variation in a subset of candidate genes in the search of recent selective events in worldwide human populations. Our results suggest that most of the genes implicated in selective events during early human evolution differ from those involved in recent human adaptations, implying distinct selective pressures during varying stages of human evolutionary history. We also found three genome regions with evidence of recent positive selection, which were dissected to propose targets of selection and discuss on the possible underlying selective pressures in each case. La selección natural ha moldeado de forma importante la variación genética humana, por lo que encontrar variantes que hayan sido seleccionadas positivamente puede dar indicios acerca de los genes que determinan la diversidad fenotípica humana. En este trabajo comparamos los genes del genoma humano, del chimpancé y de varias especies cercanamente emparentadas para detectar aquellos genes bajo selección positiva en el linaje humano, y posteriormente evaluar la variación intraespecífica en un subconjunto de genes con la intención de buscar eventos de selección reciente en poblaciones humanas de todo el mundo. Nuestros resultados sugieren que la mayoría de genes implicados en eventos selectivos durante la evolución temprana del hombre no son los mismos que aquellos involucrados en adaptaciones humanas recientes, lo que implica la existencia de diferentes presiones selectivas a lo largo de las distintas etapas de la historia evoluti.
Positive Selection In The Human Lineage Across Time Scales
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Author : Rachel M. Gittelman
language : en
Publisher:
Release Date : 2016
Positive Selection In The Human Lineage Across Time Scales written by Rachel M. Gittelman and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016 with categories.
Understanding the evolutionary history of humankind has long been a central goal of biology. This history extends over millions of years- beginning with the events that led to our divergence from chimpanzees and other primate relatives, and ending with the ongoing migration patterns that give rise to the diverse human populations we see today. DNA sequencing and other molecular techniques for ascertaining genetic variation have been instrumental in reconstructing the timeline of this history. However, these technologies can also be leveraged to answer more fundamental questions about the ways that natural selection has shaped human evolution. For instance, studying patterns of DNA variation can elucidate the genetic basis of traits that were selected for in the human lineage across time scales. Although many methods have been developed to identify these signatures that natural selection has left on our genomes, there are still many cases of positive selection that current methods are not designed to detect. Here I present novel genome-wide approaches for detecting natural selection at two different points in human history. In the first, I extended methods to identify regulatory elements that show elevated rates of human-specific substitutions, and may thus underlie unique human phenotypes that evolved after our divergence from other apes. In the second, I characterized haplotypes inherited from interbreeding events with archaic hominin species that facilitated modern human adaptation to out of Africa environments. Both of these approaches build significantly on previous work to identify positive selection in the human genome, and provide an extensive catalogue of loci to study using more targeted hypotheses in the future.
Search For Functional Alleles In The Human Genome With Focus On Cardiovascular Disease Candidate Genes
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Author : Andrew Danner Johnson
language : en
Publisher:
Release Date : 2007
Search For Functional Alleles In The Human Genome With Focus On Cardiovascular Disease Candidate Genes written by Andrew Danner Johnson and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007 with Allelomorphism categories.
Abstract: The genetic investigation of human disorders largely through linkage mapping has led to the discovery of candidate genes and mutations as risk factors for those disorders where there is a high degree of penetrance. While twin studies have provided evidence that there are major genetic contributions to multifactorial diseases like coronary artery disease, it has proven difficult to find and replicate significant genetic associations for such diseases. Searching for genetic variants with evidence of a direct molecular impact on the expression and function of candidate genes vital to disease etiology is one valid approach to this problem. There is a growing appreciation that one major class of variation acts at the level of mRNA expression. Traditional tools for studying this class of variation (e.g., reporter gene assays) have severe limitations, mainly in lacking the in vivo context where the alleles have their functional impact. This dissertation relies on the application of a relatively novel technique: measurement of allelic expression imbalances (AEI) between chromosomes in human tissues. Using these measurements as phenotypic traits, I demonstrate that cis-acting alleles affecting mRNA expression can be readily mapped. In the largest survey to date of AEI in human tissues I find AEI in disease candidate genes is quite common, and that functional contributors to these expression phenotypes are often not regulatory polymorphisms, but polymorphisms found directly within the mRNAs and affecting mRNA processing and functions. Computational analysis of mRNA structures and genetic variation within human genomes indicates that modulation of mRNA structural plasticity to polymorphism is likely one contributor to human phenotypic variability. Focusing on a number of cardiovascular disease candidate genes I make a number of novel findings: 1) a strong ACE AEI phenotype common in the African-American population is mapped to specific upstream regulatory alleles and is significantly associated with relevant clinical phenotypes, 2) SOD2 is subject to extremely common and extensive AEI in the human population suggesting potential positive selection, and 3) my results call into question the strength of many previous association studies based on polymorphisms in ACE, CCL2 and NOS3 where there is weak evidence supporting putative functional alleles.
In The Light Of Evolution
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Author : National Academy of Sciences
language : en
Publisher:
Release Date : 2007
In The Light Of Evolution written by National Academy of Sciences and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007 with Science categories.
The Arthur M. Sackler Colloquia of the National Academy of Sciences address scientific topics of broad and current interest, cutting across the boundaries of traditional disciplines. Each year, four or five such colloquia are scheduled, typically two days in length and international in scope. Colloquia are organized by a member of the Academy, often with the assistance of an organizing committee, and feature presentations by leading scientists in the field and discussions with a hundred or more researchers with an interest in the topic. Colloquia presentations are recorded and posted on the National Academy of Sciences Sackler colloquia website and published on CD-ROM. These Colloquia are made possible by a generous gift from Mrs. Jill Sackler, in memory of her husband, Arthur M. Sackler.
Evaluating Human Genetic Diversity
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Author : National Research Council
language : en
Publisher: National Academies Press
Release Date : 1998-01-19
Evaluating Human Genetic Diversity written by National Research Council and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 1998-01-19 with Science categories.
This book assesses the scientific value and merit of research on human genetic differencesâ€"including a collection of DNA samples that represents the whole of human genetic diversityâ€"and the ethical, organizational, and policy issues surrounding such research. Evaluating Human Genetic Diversity discusses the potential uses of such collection, such as providing insight into human evolution and origins and serving as a springboard for important medical research. It also addresses issues of confidentiality and individual privacy for participants in genetic diversity research studies.
Statistical Population Genomics
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Author : Julien Y Dutheil
language : en
Publisher:
Release Date : 2020-10-08
Statistical Population Genomics written by Julien Y Dutheil and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-10-08 with Science categories.
This open access volume presents state-of-the-art inference methods in population genomics, focusing on data analysis based on rigorous statistical techniques. After introducing general concepts related to the biology of genomes and their evolution, the book covers state-of-the-art methods for the analysis of genomes in populations, including demography inference, population structure analysis and detection of selection, using both model-based inference and simulation procedures. Last but not least, it offers an overview of the current knowledge acquired by applying such methods to a large variety of eukaryotic organisms. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, pointers to the relevant literature, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Statistical Population Genomics aims to promote and ensure successful applications of population genomic methods to an increasing number of model systems and biological questions. This work was published by Saint Philip Street Press pursuant to a Creative Commons license permitting commercial use. All rights not granted by the work's license are retained by the author or authors.
Human Gene Mutation
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Author : David N. Cooper
language : en
Publisher: Taylor & Francis
Release Date : 1995
Human Gene Mutation written by David N. Cooper and has been published by Taylor & Francis this book supported file pdf, txt, epub, kindle and other format this book has been release on 1995 with Science categories.
Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.
Vogel And Motulsky S Human Genetics
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Author : Friedrich Vogel
language : en
Publisher: Springer Science & Business Media
Release Date : 1997
Vogel And Motulsky S Human Genetics written by Friedrich Vogel and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 1997 with Medical categories.
Provides information on the molecular basis of human genetics and outlines the principles of other epigenetic processes which together create the phenotype of a human being. This work also discusses the molecular basis for the concepts, methods and results in fields such as population genetics.
Human Population Genetics And Genomics
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Author : Alan R. Templeton
language : en
Publisher: Academic Press
Release Date : 2018-11-08
Human Population Genetics And Genomics written by Alan R. Templeton and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-11-08 with Science categories.
Human Population Genetics and Genomics provides researchers/students with knowledge on population genetics and relevant statistical approaches to help them become more effective users of modern genetic, genomic and statistical tools. In-depth chapters offer thorough discussions of systems of mating, genetic drift, gene flow and subdivided populations, human population history, genotype and phenotype, detecting selection, units and targets of natural selection, adaptation to temporally and spatially variable environments, selection in age-structured populations, and genomics and society. As human genetics and genomics research often employs tools and approaches derived from population genetics, this book helps users understand the basic principles of these tools. In addition, studies often employ statistical approaches and analysis, so an understanding of basic statistical theory is also needed. Comprehensively explains the use of population genetics and genomics in medical applications and research Discusses the relevance of population genetics and genomics to major social issues, including race and the dangers of modern eugenics proposals Provides an overview of how population genetics and genomics helps us understand where we came from as a species and how we evolved into who we are now
Genomic Disorders
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Author : James R. Lupski
language : en
Publisher: Springer Science & Business Media
Release Date : 2007-11-10
Genomic Disorders written by James R. Lupski and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007-11-10 with Medical categories.
A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.