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Understanding human diversity
No two people are the same, and no two groups of people are the same. But what kinds of differences are there, and what do they mean? What does our DNA say about race, gender, equality, or ancestry? Drawing on the latest discoveries in anthropology and human genetics, 'Understanding Human Diversity' looks at scientific realities and pseudoscientific myths about the patterns of diversity in our species, challenging common misconceptions about genetics, race, and evolution and their role in shaping human life today. By examining nine counterexamples drawn from popular scientific ideas, that is to say, examinations of what we are not, this book leads the reader to an appreciation of what we are. We are hybrids with often inseparable natural and cultural aspects, formed of natural and cultural histories, and evolved from remote ape and recent human ancestors.
BOOK
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Survey of postzygotic mosaic mutations (PZMs) in 5,947 trios with autism spectrum disorders (ASD) discovers differences in mutational properties between germline mutations and PZMs. Spatiotemporal analyses of the PZMs also revealed the association of the amygdala with ASD and implicated risk genes, including recurrent potential gain-of-function mutations in
SMARCA4
.
We systematically analyzed postzygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder (ASD) available, including 282 unpublished trios, and performed resequencing using multiple independent technologies. We identified 7.5% of
de novo
mutations as PZMs, 83.3% of which were not described in previous studies. Damaging, nonsynonymous PZMs within critical exons of prenatally expressed genes were more common in ASD probands than controls (
P
< 1 × 10
−6
), and genes carrying these PZMs were enriched for expression in the amygdala (
P
= 5.4 × 10
−3
). Two genes (
KLF16
and
MSANTD2
) were significantly enriched for PZMs genome-wide, and other PZMs involved genes (
SCN2A
,
HNRNPU
and
SMARCA4
) whose mutation is known to cause ASD or other neurodevelopmental disorders. PZMs constitute a significant proportion of
de novo
mutations and contribute importantly to ASD risk.
Journal Article
Innate : how the wiring of our brains shapes who we are
\"What makes you the way you are--and what makes each of us different from everyone else? In Innate, leading neuroscientist and popular science blogger Kevin Mitchell traces human diversity and individual differences to their deepest level: in the wiring of our brains. Deftly guiding us through important new research, including his own work, he explains how variations in the way our brains develop before birth strongly influence our psychology and behavior throughout our lives, shaping our personality, intelligence, sexuality, and even the way we perceive the world. We all share a genetic program for making a human brain, and the program for making a brain like yours is specifically encoded in your DNA. But, as Mitchell explains, the way that program plays out is affected by random processes of development that manifest uniquely in each person, even identical twins. The key insight of Innate is that the combination of these developmental and genetic variations creates innate differences in how our brains are wired--differences that impact all aspects of our psychology--and this insight promises to transform the way we see the interplay of nature and nurture. Innate also explores the genetic and neural underpinnings of disorders such as autism, schizophrenia, and epilepsy, and how our understanding of these conditions is being revolutionized. In addition, the book examines the social and ethical implications of these ideas and of new technologies that may soon offer the means to predict or manipulate human traits are\"-- Provided by the publisher.
Book
Distinctive roles of age, sex, and genetics in shaping transcriptional variation of human immune responses to microbial challenges
The contribution of host genetic and nongenetic factors to immunological differences in humans remains largely undefined. Here, we generated bacterial-, fungal-, and viral-induced immune transcriptional profiles in an age- and sex-balanced cohort of 1,000 healthy individuals and searched for the determinants of immune response variation. We found that age and sex affected the transcriptional response of most immune-related genes, with age effects being more stimulus-specific relative to sex effects, which were largely shared across conditions. Although specific cell populations mediated the effects of age and sex on gene expression, including CD8⁺ T cells for age and CD4⁺ T cells and monocytes for sex, we detected a direct effect of these intrinsic factors for the majority of immune genes. The mapping of expression quantitative trait loci (eQTLs) revealed that genetic factors had a stronger effect on immune gene regulation than age and sex, yet they affected a smaller number of genes. Importantly, we identified numerous genetic variants that manifested their regulatory effects exclusively on immune stimulation, including a Candida albicans-specific master regulator at the CR1 locus. These response eQTLs were enriched in disease-associated variants, particularly for autoimmune and inflammatory disorders, indicating that differences in disease risk may result from regulatory variants exerting their effects only in the presence of immune stress. Together, this study quantifies the respective effects of age, sex, genetics, and cellular heterogeneity on the interindividual variability of immune responses and constitutes a valuable resource for further exploration in the context of different infection risks or disease outcomes.
Journal Article
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
Community microattribution review of the evidence for colon cancer risk conferred by constitutional variants in
MLH1
,
MSH2
,
MSH6
and
PMS2
has resulted in the reclassification of two-thirds of the variants reported in existing databases and led to clinical recommendations for the interpretation of 1,370 variants that do not result in obvious protein truncation.
The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome–associated genes
MLH1
,
MSH2
,
MSH6
and
PMS2
. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases.
Journal Article
Consanguinity, inbreeding, and genetic drift in Italy (Monographs in population biology ; 39)
In 1951, the geneticist Luigi Luca Cavalli-Sforza was teaching in Parma when a student--a priest named Antonio Moroni--told him about rich church records of demography and marriages between relatives. After convincing the Church to open its records, Cavalli-Sforza, Moroni, and Gianna Zei embarked on a landmark study that would last fifty years and cover all of Italy. This book assembles and analyzes the team's research for the first time.
Using blood testing as well as church records, the team investigated the frequency of consanguineous marriages and its use for estimating inbreeding and studying the relations between inbreeding and drift. They tested the importance of random genetic drift by studying population structure through demography of the last three centuries, using it to predict the spatial variation of frequencies of genetic markers. The authors find that drift-related genetic variation, including its stabilization by migration, is best predicted by computer simulation. They also analyze the usefulness and limits of the concept of deme for defining Mendelian populations. The genetic effect of consanguineous marriage on recessive genetic diseases and for the detection of dominance in metric characters are also studied.
Ultimately bringing together the many strands of their massive project, Cavalli-Sforza, Moroni, and Zei are able to map genetic drift in all of Italy's approximately 8,000 communes and to demonstrate the relationship between each locality's drift and various ecological and demographic factors. In terms of both methods and findings, their accomplishment is tremendously important for understanding human social structure and the genetic effects of drift and inbreeding.
eBook
An introduction to molecular anthropology
Molecular anthropology uses molecular genetic methods to address questions and issues of anthropological interest. More specifically, molecular anthropology is concerned with genetic evidence concerning human origins, migrations, and population relationships, including related topics such as the role of recent natural selection in human population differentiation, or the impact of particular social systems on patterns of human genetic variation.
Organized into three major sections, An Introduction to Molecular Anthropology first covers the basics of genetics – what genes are, what they do, and how they do it – as well as how genes behave in populations and how evolution influences them. The following section provides an overview of the different kinds of genetic variation in humans, and how this variation is analyzed and used to make evolutionary inferences. The third section concludes with a presentation of the current state of genetic evidence for human origins, the spread of humans around the world, the role of selection and adaptation in human evolution, and the impact of culture on human genetic variation. A final, concluding chapter discusses various aspects of molecular anthropology in the genomics era, including personal ancestry testing and personal genomics.
An Introduction to Molecular Anthropology is an invaluable resource for students studying human evolution, biological anthropology, or molecular anthropology, as well as a reference for anthropologists and anyone else interested in the genetic history of humans.
eBook
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
Stroke has multiple etiologies, but the underlying genes and pathways are largely unknown. We conducted a multiancestry genome-wide-association meta-analysis in 521,612 individuals (67,162 cases and 454,450 controls) and discovered 22 new stroke risk loci, bringing the total to 32. We further found shared genetic variation with related vascular traits, including blood pressure, cardiac traits, and venous thromboembolism, at individual loci (
n
= 18), and using genetic risk scores and linkage-disequilibrium-score regression. Several loci exhibited distinct association and pleiotropy patterns for etiological stroke subtypes. Eleven new susceptibility loci indicate mechanisms not previously implicated in stroke pathophysiology, with prioritization of risk variants and genes accomplished through bioinformatics analyses using extensive functional datasets. Stroke risk loci were significantly enriched in drug targets for antithrombotic therapy.
Multiancestry genome-wide association analyses identify new risk loci for stroke and stroke subtypes. Fine mapping and bioinformatics analyses of these risk loci point to mechanisms not previously implicated in stroke pathophysiology.
Journal Article
Eco-Neurobiology, and How the Environment Shapes Our Brains
Eco-neurobiology is a field of neuroscience that investigates how environmental factors impact the brain through development and aging. This book takes the reader on a journey through the most recent findings in this field, covering how non-genetic factors influence our brain and may contribute to the development of disorders, as well as the everyday function of our minds. The things we eat, the stressfulness of our lives, and traumatic events all have effects on our brains that we are just beginning to understand.
eBook