Genetics and Genomics Commons^™

Functional Analysis Provides Insight Into Missing Heritability, Scott L. Baughan, Michael A. Tainsky, Fatima Darwiche

Medical Student Research Symposium

Accurate ascertainment of genetic risk can be potentially lifesaving for patients who inherit cancer promoting mutations. However, even with the most extensive panel testing clinically available, a large number of patients will test negative despite family history of cancer or test positive for a variant of unknown significance (VUS). For these patients, clinical management is complicated; patients want to know their risk, and may fear disease they are not at great risk for (benign VUS) or they may not be given access to potentially lifesaving early screening procedures (pathogenic VUS). ATM has proven a challenge to clinicians due to its …

Very Long Chain Acyl-Coa Dehydrogenase Deficiency Diagnosed By Michigan Newborn Screening And Their Cardiac Complications, Lindsay Jenkins, Kara Pappas Md, Shagun Kaur Md, Marissa Younan Ms, Cgc

Medical Student Research Symposium

With the expansion of newborn screening (NBS), there has been an increase in the number of patients diagnosed with genetic and metabolic conditions before the onset of symptoms. Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) is a genetic disorder of fatty acid metabolism that can cause hypoglycemia, myopathy, rhabdomyolysis, cardiomyopathy and cardiac arrhythmias. VLCADD was included in the Michigan NBS in 2005 and since then, our center has diagnosed 28 patients with VLCADD. We have observed that many of these patients are asymptomatic or have a mild disease presentation. These patients may also have a lower incidence of cardiac complications than …

The Biodiversity Of Freshwater Crustaceans Revealed By Taxonomy And Mitochondrial Dna Barcodes, Adrian Amelio Vasquez, Brittany L. Bonnici, Donna R. Kashian, Jorge Trejo-Martinez, Carol J. Miller, Jeffrey L. Ram

Physiology Faculty Research Publications

Cytochrome oxidase subunit I (COI) barcode sequences in this file were obtained from specimens collected by plankton net in western Lake Erie in 2012 & 2013, along with later specimens collected at various locations and times, including some collected in Belize in 2015. Methods and other details about these sequences are described in a paper by the same authors in a submitted publication (2021: URL to be given here when published). The right columns below contain additional notes on lengths of sequences, GenBank accession ID (when obtained), and annotation as to whether the sequence represents a new barcode for its …

Mite Diet Sequences Obtained By High Throughput Sequencing Of Gut Contents Of Freshly Collected Water Mites, Adrian Amelio Vasquez, Obadeh Mohiddin, Zeyu Li, Brittany L. Bonnici, Katherine Gurdziel, Jeffrey L. Ram

Physiology Faculty Research Publications

Cytochrome oxidase subunit I (COI) barcode sequences in this file were obtained from gut DNA extracted from 54 freshly collected water mites, comprising 21 Lebertia quinquemaculosa , 30 Lebertia davidcooki , 1 Limnesia , and 2 Arrenurus specimens. Methods and other details about these sequences are described in a paper by the same authors in a submitted publication (2021: URL to be given here when published). Data on collection locations, primers (mLep and LCOI), amino acid translations, etc. are included in corresponding sequences uploaded to GenBank. The right column below contains additional notes on naming the taxa of the sequences …

Mitochondrial Dna Diversity And Evolutionary History Of Native Human Populations Of Northwest Patagonia (Argentina), María Bárbara Postillone, Virginia Agustina Cobos, Celmira Urrutia, Cristina Beatriz Dejean, Paula N. Gonzalez, Sergio Ivan Perez, Valeria Bernal

Human Biology Open Access Pre-Prints

The genetic composition of Amerindian descendants from Patagonia has long been a focus of interest, although the information available is still scarce for many geographic areas. Here, we report the first analysis of the variation in the mtDNA control region for an area of northwestern Patagonia, the North of Neuquén, with the aim of studying the processes and historical events that modeled the evolutionary history of these human groups. We analyzed 113 individuals from two localities of northern Neuquén, along with 6 from southern Neuquén and 223 mtDNA sequences previously published from neighboring areas from Argentina and Chile. We estimated …

How The Atacama Skeleton Might Advance Discussion Of Responsible Conduct Of Research Responsibilities, Thomas May, Mariko Nakano-Okuno

Human Biology Open Access Pre-Prints

Controversies resulting from genetic testing on skeletal remains of disputed stewardship raise important questions about obligations inherent on genetic researchers to assure ethical chain of custody. In this paper, we analyze and evaluate several proposed positions on whether such research should be published. Following jurisprudential standards for legitimate regulatory systems, we argue that responsible conduct of research requires reasonable attention to chain of custody, but cannot require guarantees, particularly in cases of ancient remains.

Genetic Overview Of The Maya Populations: Mitochondrial Dna Haplogroups, Angélica González-Oliver, Dircé Pineda-Vázquez, Ernesto Garfias-Morales, Isabel De La Cruz-Laina, Luis Medrano-González, Lourdes Márquez-Morfín, Allan Ortega-Muñoz

Human Biology Open Access Pre-Prints

We identified the mitochondrial DNA haplogroups A, B, C and D in 75 present-day Maya individuals, 24 Maya individuals of the colonial period and one pre-Columbian Maya individual from Quintana Roo, Mexico. We examined these data together with those of 21 Maya populations accounting for 647 present-day Maya individuals and 104 ancient Maya individuals. A demographic study based on the analysis of fertility and endogamy was carried out in two modern Maya populations to identify cultural factors that influence the mitochondrial haplogroup genetic diversity. Most present-day and ancient Maya populations show a distribution pattern of mitochondrial haplogroup frequencies A, C, …

Ontogenesis Of The Sella Turcica Among Egyptians: Forensic And Radiological Study, Wafaa Mohamed El-Sehly, Fatma Mohamed Magdy Badr El Dine, Mohamed Samir Shaban

Human Biology Open Access Pre-Prints

Introduction: The sella turcica has gained importance as a stable bony landmark in cephalometric studies.
Aim of the work: The aim of the work was to explore the changes that accompany postnatal ontogeny of the sella turcica until full development, and to verify its contribution in age estimation and sexual assignment among Egyptians.
Subjects and methods: Six selected measurements of the sella turcica of 215 Egyptian patients were assessed using Multidetector Computed Tomography (MDCT). The patients represented different ages and were referred to the Radiodiagnosis and Intervention Department. The gathered data were then subjected to statistical analysis including correlation and …

Genetic Variants Of Duffy And Hemoglobin S Genes In An Afrodescendent Population From Columbia, Diana C. Ortega, Heiber Cardenas, Guillermo Barreto

Human Biology Open Access Pre-Prints

Malaria is an endemic disease in a large part of Colombia, and the city of Buenaventura reports one of the highest malaria infection rates. Some genetic variants confer resistance to malaria, such as the heterozygote for hemoglobin S (HbS) and the homozygous variant FYB^ES/FYB^ES of the Duffy gene. The aim of this work was the molecular characterization of these genes in an afrodescendent population from the urban area of Buenaventura. A total of 819 individuals from a stratified random sampling in each of the 12 communities of this city were analysed. Molecular analysis was performed using PCR-RFLP, …

Complexity, Genetic Causation, And Hereditarianism, Charles Roseman

Human Biology Open Access Pre-Prints

Hereditarians have claimed that recent advances in psychological and psychiatric genetics support their contention that individual and group socially important aspects of behavior and cognition are largely insensitive to environmental context. This has been countered by anti- hereditarians who (correctly) claim that the conclusion of genetic ineluctability is false. Anti- hereditarians, however, sometimes use problematic arguments based on complexity and the ignorance that comes with complexity and a demand for mechanistic, as opposed to variational, explanations for the ways in which genes affect phenotype. I argue here, as a committed anti-hereditarian, that the complexity gambit and the demand for mechanisms …

Probability, Populations, Phylogenetics And Hominin Speciation, Niccolo Caldararo

Human Biology Open Access Pre-Prints

A number of recent articles have appeared on the hominin Denisova fossil remains. Many of them focus on attempts to produce DNA sequences from the extracted samples. Often these project mtDNA sequences from the fossil remains of a number of Neandertal fossils and the Denisovans in an attempt to understand the evolution of Mid Pleistocene human ancestors. These papers, introduce a number of problems in the interpretation of speciation in hominins. One concerns the degradation of the ancient DNA and its interpretation as authentic genetic information. Another concerns the idea of “species” versus that of “population” and the use of …

The Development And Use Of Computational Tools In Forensic Science, Dennis E. Slice

Human Biology Open Access Pre-Prints

Modern computational resources make available a rich toolkit of statistical methods that can be applied to forensic questions. This toolkit is built on the foundation of statistical developments dating back to the 19th century. To fully and effectively exploit these developments, both the makers and users of software must be keenly aware of the quality, i.e., the accuracy and precision, of the data being modeled or analyzed, and end-users must be sufficiently familiar with the underlying theory to understand the process and results of any analysis or software they use. This is especially important for medico-legal personnel who might be …

Age-At-Death Estimation For Modern Populations In Mexico And Puerto Rico Through The Use Of 3d Laser Scans Of The Pubic Symphysis, Cristina Figueroa Soto, Bridget F.B. Algee-Hewitt, Guillermo Bravo Morante, Dennis E. Slice, Dawnie W. Steadman

Human Biology Open Access Pre-Prints

Reliable age-at-death estimates from the adult skeleton is of fundamental importance in forensic anthropology, as it contributes to the identity parameters used in a medico-legal death investigation. However, reliable estimates are made difficult by the fact that many traditional aging methods are dependent upon a set of population-specific criteria derived from individuals of European and African descent. The absence of information on the potential differences in the aging patterns of underrepresented, especially Hispanic populations, may hinder our efforts to produce useful age-at-death estimates. In response to these concerns, this study explores the utility of currently available aging techniques, and explores …

Oxygen And Hydrogen Isotopes In Human Hair And Tap Water: Modeling Relationships In A Modern Mexican Population, Chelsey A. Juarez, Robin Ramey, David T. Flaherty, Belinda Akpa

Human Biology Open Access Pre-Prints

This study investigates the relationship between O and H isotopes in samples of Mexican hair and drinking water. The purpose of this study was twofold. First, we wanted to quantify the relationship between isotopes in Mexican hair and tap water to understand the impact of water stress and differing socioeconomic status on accurate predictions of drinking water. Second, we wanted to determine whether currently existing semi mechanistic models could accurately represent the relationship between hair and tap water. For this study, we used a subset of paired (N = 62) human hair and (N = 76) tap water samples. Isotope …

Neanderthal And Woolly Mammoth Molecular Resemblance: Genetic Similarities Might Underlie Cold Adaptation Suite, Meidad Kislev, Ran Barkai

Human Biology Open Access Pre-Prints

With the ongoing growth of gene-based research in recent decades, the possibility of examining changes that have taken place in structures over the course of evolution has become increasingly accessible. One intriguing subject at the forefront of evolutionary research is that of how environmental pressures affect species evolution through epigenetic adaptation. In this paper we present the available molecular components of adaptation to cold environments in two extinct mammals – the woolly mammoth and the Neanderthal. These two species co-existed in similar geographic and environmental European settings during the Middle and Upper Pleistocene and both were direct descendants of African …

Population Identifiability From Forensic Genetic Markers: Ancestry Variation In Latin America, Cris E. Hughes, Bridget F.B. Algee-Hewitt, Lyle Konigsberg

Human Biology Open Access Pre-Prints

The Combined DNA Index System (CODIS) loci are a standard microsatellite marker set widely used for distinguishing among individuals in forensic DNA identity testing for medico-legal casework in the United States and in other countries. In anthropological genetic research, CODIS markers have become an important tool for uses extending beyond case investigations to quantify ancestry proportions, reveals patterns of admixture and trace population histories. These investigations are especially prevalent in studies of Latin American population structure. Nevertheless, the accuracy of the ancestry estimates computed from the CODIS loci for highly admixed Latino populations has not been formally tested. Long-standing arguments …

Who Needs Data? I’Ve Got Experience!, Dawnie Wolfe Steadman

Human Biology Open Access Pre-Prints

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New Approaches To Juvenile Age Estimation In Forensics: Application Of Transition Analysis Via The Shackelford Et Al. Method To A Diverse Modern Subadult Sample, Kelly R. Kamnikar, Nicholas P. Herrmann, Amber M. Plemons

Human Biology Open Access Pre-Prints

Dental development is one of the most widely utilized and accurate methods available for estimating age in subadult skeletal remains. The timing of tooth growth and development is regulated by genetics and less affected by external factors, allowing reliable estimates of chronological age. Traditional methodology focuses on comparing tooth developmental scores to corresponding age charts. Using the Moorrees, Fanning, and Hunt (MFH) developmental scores, Shackelford and colleagues embed the dental development method in a statistical framework based on transition analysis. They generated numerical parameters underlining each “stage” and age-at-death distribution and applied them to fossil hominins and Neanderthals with limited …

Thinking Computationally About Forensics: Anthropological Perspectives On Advancements In Technologies, Data, And Algorithms, Bridget F.B. Algee-Hewitt, Jieun Kim, Cris E. Hughes

Human Biology Open Access Pre-Prints

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Open-Source Tools For Dense Facial Tissue Depth Mapping (Ftdm) Of Computed Tomography Models, Terrie Simmons-Ehrhardt, Catyana Falsetti, Anthony B. Falsetti, Christopher J. Ehrhardt

Human Biology Open Access Pre-Prints

Computed tomography (CT) scans provide anthropologists with a resource to generate three- dimensional (3D) digital skeletal material to expand quantification methods and build more standardized reference collections. The ability to visualize and manipulate the bone and skin of the face simultaneously in a 3D digital environment introduces a new way for forensic facial approximation practitioners to access and study the face. Craniofacial relationships can be quantified with landmarks or with surface processing software that can quantify the geometric properties of the entire 3D facial surface. This paper describes tools for the generation of dense facial tissue depth maps (FTDMs) using …

Of Typicality And Predictive Distributions In Discriminant Function Analysis, Lyle W. Konigsberg, Susan R. Frankenberg

Human Biology Open Access Pre-Prints

While discriminant function analysis is an inherently Bayesian method, researchers attempting to estimate ancestry in human skeletal samples often follow discriminant function analysis with the calculation of frequentist-based typicalities for assigning group membership. Such an approach is problematic in that it fails to account for admixture and for variation in why individuals may be classified as outliers, or non-members of particular groups. This paper presents an argument and methodology for employing a fully Bayesian approach in discriminant function analysis applied to cases of ancestry estimation. The approach requires adding the calculation, or estimation, of predictive distributions as the final step …

Mitochondrial Dna Analysis Of Mazahua And Otomi Indigenous Populations From Estado De Mexico Suggests A Distant Common Ancestry, Angelica GonzáLez-Oliver, Ernesto Garfias-Morales, D G. Smith, Mirsha Quinto-Sánchez

Human Biology Open Access Pre-Prints

The indigenous Mazahua and Otomi have inhabited the same localities in Estado de Mexico since pre-Columbian times. Their languages, Mazahua and Otomi, belong to the Otomanguean linguistic family, and, while they share cultural traditions and a regional history that suggest close genetic relationships and common ancestry, the historical records concerning their origin are confusing. To understand the biological relationships between Mazahua and Otomi we analyzed the mitochondrial DNA (mtDNA) genetic variation. We identified the mtDNA haplogroups by restriction fragment length polymorphism typing and sequenced the hypervariable region I of the mtDNA control region in 141 Mazahua and 100 Otomi. These …

Evaluating Nubian Population Structure From Cranial Nonmetric Traits: Gene Flow, Genetic Drift, And Population History Of The Nubian Nile Valle, Kanya Godde, Richard L. Jantz

Human Biology Open Access Pre-Prints

Paleolithic archaeological and skeletal remains from the Nile Valley have yielded a complex picture of life along the river. Sociocultural and sociopolitical events during this timeframe shaped population structure, while gene flow and genetic drift further developed it. In this paper, we take a population genetics approach to modeling Nubian biological relationships in an effort to describe how an accumulation of events formed Nubian population structure. A variety of Nubian samples were utilized, spanning the Mesolithic-Christian time periods, and geographically, from just above the first through the third cataracts. Population genetics statistics were employed to estimate and depict biological affinities …

Evolution, Function And Deconstructing Histories: A New Generation Of Anthropological Genetics, Omer Gokcumen

Human Biology Open Access Pre-Prints

Introduction to the Special Issue, mainly based on contributions by the speakers in the 2016 AAAG symposium, “Ancient alleles in modern populations: Ancient structure, introgression, and variation-maintaining adaptive forces.”

Chaco Canyon Dig Unearths Ethical Concerns, Katrina G. Claw, Dorothy Lippert, Jessica Bardill, Anna Cordova, Keolu Fox, Joseph M. Yracheta, Alyssa C. Bader, Deborah A. Bolnick, Ripan S. Malhi, Kimberly Tallbear, Nanibaa' A. Garrison

Human Biology Open Access Pre-Prints

The field of paleogenomics (the study of ancient genomes) is rapidly advancing with more robust methods of isolating ancient DNA and increasing access to next-generation DNA sequencing technology. As these studies progress, many important ethical issues have emerged that should be considered when ancient Native American remains, whom we refer to as ancestors, are used in research. We highlight a recent article by Kennett et al. (2017), “Archaeogenomic evidence reveals prehistoric matrilineal dynasty,” that brings several ethical issues to light that should be addressed in paleogenomics research (Kennett et al. 2017). The study helps elucidate the matrilineal relationships in ancient …

Genetic Differentiation In A Sample From Northern Mexico City Detected By Hla System Analysis: Impact In The Study Of Population Immunogenetics, Eva D. JuáRez CortéS, Miguel A. Contreras Sieck, AgustíN J. Arriaga Perea, Rosa M. MacíAs Medrano, Anaí Balbuena Jaime, Paola Everardo MartíNez, JoaquíN ZúÑIga, VíCtor AcuñA Alonzo, Julio Granados, Rodrigo Barquera

Human Biology Open Access Pre-Prints

The major histocompatibility complex is directly involved in the immune response and thus the genes coding for its proteins are useful markers for the study of genetic diversity, susceptibility to disease (autoimmunity and infections), transplant medicine, and pharmacogenetics, among others. The polymorphism of the system also allows researchers to use it as a proxy for population genetics analysis, such as genetic admixture and genetic structure. In order to determine the immunogenetic characteristics of a sample from the northern part of Mexico City and to use them to analyze the genetic differentiation from other admixed populations, including those from previous studies …

Leveraging Multiple Populations Across Time Helps Define Accurate Models Of Human Evolution: A Reanalysis Of The Lactase Persistence Adaptation, Chenling Xu Antelope, Davide Marnetto, Fergal Casey, Emilia Huerta-Sanchez

Human Biology Open Access Pre-Prints

Access to a geographically diverse set of modern human samples from the present time and from ancient remains, combined with archaic hominin samples, provides an unprecedented level of resolution to study both human history and adaptation. The amount and quality of ancient human data continues to improve, and enables tracking the trajectory of genetic variation over time. These data have the potential to help us redefine or generate new hypotheses of how human evolution occurred, and revise previous conjectures. In this review, we argue that leveraging all these data will help us better detail adaptive histories in humans. As a …

Introgression Makes Waves In Inferred Histories Of Effective Population Size, John Hawks

Human Biology Open Access Pre-Prints

Human populations have a complex history of introgression and of changing population size. Human genetic variation has been affected by both these processes, so that inference of past population size depends upon the pattern of gene flow and introgression among past populations. One remarkable aspect of human population history as inferred from genetics is a consistent “wave” of larger effective population size, found in both African and non-African populations, that appears to reflect events prior to the last 100,000 years. Here I carry out a series of simulations to investigate how introgression and gene flow from genetically divergent ancestral populations …

Infectious Disease And The Diversification Of The Human Genome, Jessica F. Brinkworth

Human Biology Open Access Pre-Prints

The human immune system is under great pathogen-mediated selective pressure. A combination of divergent infectious disease pathogenesis across human populations, and the overrepresentation of “immune genes” in genomic regions with signatures of positive selection suggests that pathogens have significantly altered the human genome. However, important features of the human immune system can confound searches for and interpretations of signatures of pathogen-mediated evolution. Immune system redundancy, immune gene pleiotropy, host ability to acquire immunity and alter the immune repertoire of their offspring through “priming”, and host microbiome complicate evolutionary interpretations of host- pathogen interactions. The overall promiscuity and sensitivity of the …

Mitochondrial-Dna Phylogenetic Information And The Reconstruction Of Human Population History: The South American Case, María Bárbara Postillone, S. Ivan Perez

Human Biology Open Access Pre-Prints

Objectives: Mitochondrial DNA (mtDNA) sequences are becoming increasingly important in the study of human population history. Here, we explore the differences in the amount of information of different mtDNA regions and their utility for the reconstruction of South American population history.

Material and methods: We analyzed six datasets comprising 259 mtDNA sequences from South America: Complete mtDNA, Coding, Control, hypervariable region I (HVRI), cytochrome b (cytb) plus Control, and cytb plus 12S plus 16S. The amount of information in each dataset was estimated employing several site-by-site and haplotype based statistics, distances among sequences, Neighbor-joining trees, distances among the estimated trees, …