Life Sciences Commons^™

A Population-Genetic Perspective On The Similarities And Differences Among Worldwide Human Populations, Noah A. Rosenberg

Human Biology Open Access Pre-Prints

Recent studies have produced a variety of advances in the investigation of genetic similarities and differences among human populations. Here, I pose a series of questions about human population- genetic similarities and differences, and I then answer these questions by numerical computation with a single shared population-genetic dataset. The collection of answers obtained provides an introductory perspective for understanding key results on the features of worldwide human genetic variation.

Integration Versus Apartheid In Post-Roman Britain: A Response To Thomas Et Al. (2008), John E. Pattison

Human Biology Open Access Pre-Prints

The genetic surveys of the population of Britain conducted by Weale et al. and Capelli et al. produced estimates of the Germani immigration into Britain during the early Anglo-Saxon period, c.430-c.730. These estimates are considerably higher than the estimates of archaeologists. A possible explanation suggested that an apartheid-like social system existed in the early Anglo-Saxon kingdoms resulting in the Germani breeding more quickly than the Britons. Thomas et al. attempted to model this suggestion and showed that it was a possible explanation if all Anglo-Saxon kingdoms had such a system for up to 400 yrs. I noted that their explanation …

Afghan Genetic Mysteries, Bernard Dupaigne

Human Biology Open Access Pre-Prints

Letter To The Editor

The Y-Str Genetic Diversity Of An Idaho Basque Population, With Comparison To European Basques And Us Caucasians, Josu Zubizarreta, Michael C. Davis, Greg Hampikian

Human Biology Open Access Pre-Prints

Fifty unrelated Basque males from southwest Idaho were typed for the 17 Y-STR loci in the Yfiler multiplex kit (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, YGATA_H4.1 and DYS385a/b). A total of 42 haplotypes were identified, with no more than two individuals sharing a single haplotype. The haplotype diversity (HD) was 0.9935, and gene diversity (D) over loci was 0.457 ± 0.137. The Idaho Basque population was compared to the source population from the Basque autonomous region of Northern Spain and Southern France, as well as a US Caucasian population. The haplotype diversity …

Afro-Derived Amazonian Populations: Inferring Continental Ancestry And Population Substructure, Luana Gomes Lopes Maciel, Elzemar Martins Ribeiro-Rodrigues, Ney Pereira Cameiro Dos Santos, Ândrea K. C. Ribeiro Dos Santos, João Farias Guerreiro, Sidney Emanuel Batista Dos Santos

Human Biology Open Access Pre-Prints

A panel of Ancestry Informative Markers (AIMs) was used to identify population substructure and estimate individual and overall interethnic admixture in 294 individuals from seven African-derived communities of the Brazilian Amazon. A panel of 48 biallelic markers, representing the insertion (IN) or the deletion (DEL) of small DNA fragments, was employed for this purpose. Overall interethnic admixture estimates showed high miscegenation with other ethnic groups in all populations (between 46% and 64%). The proportion of ancestral genes varied significantly among individuals of the sample: the contribution of African genes varied between 12% and 75%; of European genes between 10% and …

Historical Sketch Of Slovak Haban (Hutterite) Population Based On Autosomal Str Analysis, Matúš Soták, E. Petrejčíková, D. Siváková, Krzysztof Rębała, A. Bôžiková, J. Bernasovská, J. Čarnogurská, I. Boroňová, S. Mačeková, L. Homol'ová, A. Sovičová, D. Gabriková, L. Rusínová, I. Bernasovský

Human Biology Open Access Pre-Prints

According to the Hutterite chronicles, the Habans arrived from Austrian Tyrol, Switzerland and northernmost Italy and stayed in four regions of Slovakia (Sobotište, Vel'ké, Leváre, Moravský, Svätý, Ján, Trenčín). There are some communities in western Slovakia, which retained their Haban cultural identity and still identify themselves as descendents of the Hutterite population with their own specific customs. Slovak Habans are typical founder population with significant social isolation for which high degree of inbreeding is typical. Present study investigated STR polymorphisms as a powerful genetic tool for population genetic studies. The aim was to perform a comparative, population genetic study based …

Human Alu Insertion Polymorphisms In North African Populations, Lotfi Cherni, Sabeh Frigi, Hajer Ennafaa, Nabil Mtiraoui, Touhami Mahjoub, Amel Benammar-Elgaaied

Human Biology Open Access Pre-Prints

Several features make Alu insertions a powerful tool used in population genetic studies: the polymorphic nature of many Alu insertions, the stability of an Alu insertion event and, furthermore, the ancestral state of an Alu insertion is known to be the absence of the Alu element at a particular locus and the presence of an Alu insertion at the site that forward mutational change. This study analyses seven Alu insertion polymorphisms in a sample of 297 individuals from the autochthonous population of Tunisia (Thala, Smar, Zarzis and Bou Salem) and Libya with the aim of studying their genetic structure with …

Measuring Enjoyment Of Physical Activity In Older Adults: Invariance Of The Physical Activity Enjoyment Scale (Paces) Across Group And Time, Sean P. Mullen, Erin A. Olson, Siobhan M. Phillips, Amanda N. Szabo, Thomas R. Wójcicki, Emily L. Mailey, Neha P. Gothe, Jason T. Fanning, Arthur F. Kramer, Edward Mcauley

Kinesiology, Health and Sport Studies

The purpose of this study was to validate the Physical Activity Enjoyment Scale (PACES) in a sample of older adults. Participants within two different exercise groups were assessed at two time points, 6 months apart. Group and longitudinal invariance was established for a novel, 8-item version of the PACES. The shortened, psychometrically sound measure provides researchers and practitioners an expedited and reliable instrument for assessing the enjoyment of physical activity.

Building Sustainable, Just Food Systems In Detroit: Reflections From Seed Wayne, A Campus-Community Collaborative, Kameshwari Pothukuchi

Urban Studies and Planning Faculty Research Publications

This article describes a campus-community collaborative, SEED Wayne, which was developed to build sustainable food systems on Wayne State University’s campus and in Detroit neighborhoods. The discussion traces the nature of SEED Wayne’s partnerships and reflects on the program’s past three years of existence, including experiences within the university, practical challenges associated with defining sustainability uniformly across diverse campus and community activities, gaining consistent student involvement, and the mutual benefits of the university-community partnership.

Effects Of Diet Type And Supplementation Of Glucosamine, Chondroitin, And Msm On Body Composition, Functional Status, And Markers Of Health In Women With Knee Osteoarthritis Initiating A Resistance-Based Exercise And Weight Loss Program, Teresa Magrans-Courtney, Colin Wilborn, Christopher Rasmussen, Maria Pontes Ferreira, Lori Greenwood, Bill Campbell, Chad M. Kerksick, Erica Nassar, Rui Li, Mike Iosia, Matt Cooke, Kristin Dugan, Darryn Willoughby, Luann Soliah, Richard B. Kreider

Nutrition and Food Science Faculty Research Publications

Background: The purpose of this study was to determine whether sedentary obese women with knee OA initiating an exercise and weight loss program may experience more beneficial changes in body composition, functional capacity, and/or markers of health following a higher protein diet compared to a higher carbohydrate diet with or without GCM supplementation.

Methods: Thirty sedentary women (54 ± 9 yrs, 163 ± 6 cm, 88.6 ± 13 kg, 46.1 ± 3% fat, 33.3 ± 5 kg/m²) with clinically diagnosed knee OA participated in a 14-week exercise and weight loss program. Participants followed an isoenergenic low fat higher …

Drafting Human Ancestry: What Does The Neanderthal Genome Tell Us About Hominid Evolution? Commentary On Green Et Al. (2010), Michael Hofreiter

Human Biology

Ten years after the first draft versions of the human genome were
announced, technical progress in both DNA sequencing and ancient DNA
analyses has allowed a research team around Ed Green and Svante Pa¨a¨bo to
complete this task from infinitely more difficult hominid samples: a few
pieces of bone originating from our closest, albeit extinct, relatives, the
Neanderthals. Pulling the Neanderthal sequences out of a sea of contaminating
environmental DNA impregnating the bones and at the same time
avoiding the problems of contamination with modern human DNA is in itself
a remarkable accomplishment. However, the crucial question in the long …

Reproduction And Genetic Detection Of Veligers In Changing Dreissena Populations In The Great Lakes, Jeffrey L. Ram, Aos S. Karim, Payel Acharya, Pranav Jagtap, Sonal Purohit, Donna R. Kashian

Environmental Science and Geology Faculty Research Publications

Dreissenid bivalves, Dreissena polymorpha (zebra mussel) and Dreissena bugensis (quagga mussel) are biofouling species that invaded the Great Lakes region of North America from source populations in Europe in the 1980s. Initially, D. polymorpha spread faster and farther; however, D. bugensis have recently displaced D. polymorpha in many areas of the Great Lakes and was the first to be found west of the Continental Divide. Early detection of dreissenids is important in anticipating and preventing potentially high economic impacts. To study population dynamics and to enhance detection methods, we assessed “spawnability” using a serotonin bioassay and developed a new, sensitive, …

Cardiac Calsequestrin Phosphorylation And Trafficking In The Mammalian Cardiomyocyte, Timothy Mcfarland

Wayne State University Dissertations

Cardiac CSQ (CSQ2) is a multifaceted protein, capable of binding significant quantities of Ca2+ and altering ryanodine receptor activity at the junctional sarcoplasmic reticulum (SR). Little is known about the trafficking of CSQ2 from its unknown site of biosynthesis, which appears to be of importance as its structure changes in a trafficking-dependent manner in various types of heart failure. Through the use of multiple antibodies specific to classic rough ER markers, and with the creation of CSQ-DsRed tetramer fusion protein, we were able to establish a juxtanuclear localization of rough ER in cardiomyocytes. Using fluorescence confocal microscopy, the translocon complex …

Study Of Protein-Rna Interactions Using Fluorescence Resonance Energy Transfer (Fret) And Single-Molecule Fret, Rajan Lamichhane

Wayne State University Dissertations

In the cell, RNA and protein, interact to form ribonucleoprotein complexes (RNPs) that have vital structural, catalytic and regulatory roles. Despite their functional importance, the mechanistic details and dynamics of RNPs are poorly understood. Single-molecule Fluorescence Resonance Energy Transfer (smFRET) techniques that provide information about heterogeneity and dynamic behaviors of molecules have been developed to investigate inter- and intra-molecular interactions. Here we have used FRET in combination with smFRET to study three very different RNP systems.

Alternative splicing is a highly regulated biological process that plays a crucial role in proteomic diversity in eukaryotes. One splicing regulator, PTB, has been …

Small Gtp-Binding Proteins In Insulin Secretion, Bhavaani Jayaram

Wayne State University Dissertations

Type 2 diabetes mellitus is marked by a substantial beta-cell failure which is characterized by defective insulin secretion and resistance to insulin. Understanding the molecular events leading to Glucose-stimulated insulin secretion [GSIS] might serve as therapeutic potential towards diabetes. GSIS involves interplay between small G-proteins and their regulatory factors. Herein, I tested the hypothesis that Arf nucleotide binding site opener [ARNO], a guanine nucleotide exchange factor [GEF] for the small G-protein Arf6, mediates the activation of Arf6, and that ARNO/Arf6 signaling axis, in turn, controls the activation of downstream effectors. Salient features of my study are: [i] ARNO/Arf6 is expressed …

Axogial Communication Mediated By Soluble Neuregulin-1 And Bdnf, Zhenzhong Ma

Wayne State University Dissertations

During peripheral nervous system development, successful communication between axons and glial cells including Schwann cells in peripheral nervous system and oligodendrocytes in central nervous system, is required for the proper functions of both neurons and glia. Three types of alternatively-spliced proteins belonging to the neuregulin1 (NRG1) gene family of growth and differentiation factors are essential for Schwann cell survival and peripheral nerve development. While membrane-bound NRG1 forms (type III) has been strongly implicated in the regulation of myelination process at late stage of Schwann cell development, little is known about the role of soluble, heparin-binding forms of NRG1 (type I/II) …

Mechanisms Of Persistent Translation Arrest Following Global Brain Ischemia And Reperfusion, Jill Theresa Jamison

Wayne State University Dissertations

ABSTRACT

MECHANISMS OF PERSISTENT TRANSLATION ARREST FOLLOWING GLOBAL BRAIN ISCHEMIA and REPERFUSION

by

JILL T. JAMISON

December 2011

Advisor: Donald J. DeGracia, Ph.D.

Major: Physiology

Degree: Doctor of Philosophy

The information presented here studies the mechanisms that underlie persistent translation arrest (TA) following global brain ischemia and reperfusion (I/R). To summarize the main findings I have discovered a new mechanism for prolonged post-ischemic TA that correlated exactly with in vivo translation rates and correlated precisely with cell outcome. Through the extensive colocalization studies, my results indicate that the mRNA granules are ribonomic structures involved with mRNA regulation. This finding is …

Characterization Of Poly (Rc) Binding Protein (Pcbp2) And Frataxin, Sudipa Ghimire-Rijal

Wayne State University Theses

Iron is a micronutrient that acts as a cofactor in many prosthetic groups involving itself in almost every biological process. Iron is the key component in our body fluid, flowing in our veins all the time. Iron deficiency disorders affects more than 9 million people worldwide. Similarly, a high level of iron is associated with various disorders which suggest that in order for body to function properly level of iron should be tightly regulated. Many iron binding proteins help in maintaining cellular iron homeostasis by keeping iron in reduced form.

Working on the hypothesis that Poly (rC) Binding Protein family …

Psychosocial Aspects Of Physical Activity And Fitness In Special-Population, Minority Middle School Children, Jeffrey J. Martin, Nate Mccaughtry, Anne S. Murphy, Sara Flory, Kimberlydawn Wisdom

Kinesiology, Health and Sport Studies

Special-population research predicting physical activity (PA) and fitness with minority middle school children from at-risk environments is rare. Hence, the purpose of our investigation was to evaluate the ability of important social cognitive and environment-based measures to predict PA and fitness with children with developmental delay, cognitive, and emotional impairments. Children (N = 89, ages 11-15) completed questionnaires assessing social cognitive and environment-based constructs, self report PA, and completed fitness testing. Correlational results supported some hypotheses. The descriptive and correlational results also indicated commonalities with similar research on non special-population minority middle school children from at-risk environments.

A Supermatrix Analysis Of Genomic, Morphological, And Paleontological Data From Crown Cetacea, Jonathan H. Geisler, Michael R. Mcgowen, Guang Yang, John Gatesy

Wayne State University Associated BioMed Central Scholarship

Abstract

Background

Cetacea (dolphins, porpoises, and whales) is a clade of aquatic species that includes the most massive, deepest diving, and largest brained mammals. Understanding the temporal pattern of diversification in the group as well as the evolution of cetacean anatomy and behavior requires a robust and well-resolved phylogenetic hypothesis. Although a large body of molecular data has accumulated over the past 20 years, DNA sequences of cetaceans have not been directly integrated with the rich, cetacean fossil record to reconcile discrepancies among molecular and morphological characters.

Results

We combined new nuclear DNA sequences, including segments of six genes (~2800 …

The Prevalence Of Canine Leishmania Infantum Infection In Western China Detected By Pcr And Serological Tests, Jun-Yun Wang, Yu Ha, Chun-Hua Gao, Yong Wang, Yue-Tao Yang, Hai-Tang Chen

Wayne State University Associated BioMed Central Scholarship

Abstract

Background

Canine leishmaniasis (CanL) is endemic in western China, resulting in important public health problem. It is essential to evaluate the prevalence of canine Leishmania infantum infection for designing control policy. In the present study we report for the first time prevalence of Leishmania infection in dogs living in Jiuzhaigou County (Sichuan Provence, China), which is not only an important endemic area of CanL but also a tourism scenic spot, detected by PCR, ELISA and dipstick test. The results could provide key information for designing control programs against canine and human leishmaniasis. In addition, the complete sequence of the …

Homoplastic Microinversions And The Avian Tree Of Life, Edward L. Braun, Rebecca T. Kimball, Kin-Lan Han, Naomi R. Iuhasz-Velez, Amber J. Bonilla, Jena L. Chojnowski, Jordan V. Smith, Rauri Ck Bowie, Michael J. Braun, Shannon J. Hackett, John Harshman, Christopher J. Huddleston, Ben D. Marks, Kathleen J. Miglia, William S. Moore, Sushma Reddy, Frederick H. Sheldon, Christopher C. Witt, Tamaki Yuri

Wayne State University Associated BioMed Central Scholarship

Abstract

Background

Microinversions are cytologically undetectable inversions of DNA sequences that accumulate slowly in genomes. Like many other rare genomic changes (RGCs), microinversions are thought to be virtually homoplasy-free evolutionary characters, suggesting that they may be very useful for difficult phylogenetic problems such as the avian tree of life. However, few detailed surveys of these genomic rearrangements have been conducted, making it difficult to assess this hypothesis or understand the impact of microinversions upon genome evolution.

Results

We surveyed non-coding sequence data from a recent avian phylogenetic study and found substantially more microinversions than expected based upon prior information about …

Phylogeny And Adaptive Evolution Of The Brain-Development Gene Microcephalin (Mcph1) In Cetaceans, Michael R. Mcgowen, Stephen H. Montgomery, Clay Clark, John Gatesy

Wayne State University Associated BioMed Central Scholarship

Abstract

Background

Representatives of Cetacea have the greatest absolute brain size among animals, and the largest relative brain size aside from humans. Despite this, genes implicated in the evolution of large brain size in primates have yet to be surveyed in cetaceans.

Results

We sequenced ~1240 basepairs of the brain development gene microcephalin (MCPH1) in 38 cetacean species. Alignments of these data and a published complete sequence from Tursiops truncatus with primate MCPH1 were utilized in phylogenetic analyses and to estimate ω (rate of nonsynonymous substitution/rate of synonymous substitution) using site and branch models of molecular evolution. We also tested …

The Pax Gene Eyegone Facilitates Repression Of Eye Development In Tribolium, Nazanin Zarinkamar, Xiaoyun Yang, Riyue Bao, Frank Friedrich, Rolf Beutel, Markus Friedrich

Wayne State University Associated BioMed Central Scholarship

Abstract

Background

The Pax transcription factor gene eyegone (eyg) participates in many developmental processes in Drosophila, including the Notch signaling activated postembryonic growth of the eye primordium, global development of the adult head and the development of the antenna. In contrast to other Pax genes, the functional conservation of eyg in species other than Drosophila has not yet been explored.

Results

We investigated the role of eyg during the postembryonic development of the red flour beetle Tribolium castaneum. Our results indicate conserved roles in antennal but not in eye development. Besides segmentation defects in the antenna, Tribolium eyg knockdown animals …

Cytogenetic Analysis Of An Exposed-Referent Study: Perchloroethylene-Exposed Dry Cleaners Compared To Unexposed Laundry Workers, James D. Tucker, Karen J. Sorensen, Avima M. Ruder, Lauralynn Mckernan, Christy L. Forrester, Mary Butler

Wayne State University Associated BioMed Central Scholarship

Abstract

Background

Significant numbers of people are exposed to tetrachloroethylene (perchloroethylene, PCE) every year, including workers in the dry cleaning industry. Adverse health effects have been associated with PCE exposure. However, investigations of possible cumulative cytogenetic damage resulting from PCE exposure are lacking.

Methods

Eighteen dry cleaning workers and 18 laundry workers (unexposed controls) provided a peripheral blood sample for cytogenetic analysis by whole chromosome painting. Pre-shift exhaled air on these same participants was collected and analyzed for PCE levels. The laundry workers were matched to the dry cleaners on race, age, and smoking status. The relationships between levels of …

The Impact Of Folate Deficiency On The Base Excision Repair Pathway: Analysis Of Enzyme Coordination In Response To Dna Damage And Imbalanced Repair, Amanda Pilling

Wayne State University Dissertations

The condition of folate deficiency has been implicated in carcinogenesis, with the strongest evidence formulated in colon cancer. The role of folate in DNA repair, DNA synthesis and methylation reactions renders this nutrient an valuable target for studying the onset and progression of cancer. Using molecular techniques to determine gene and protein expression, enzyme activity and methylation status elucidates the mechanism of DNA repair and damage in folic acid deficient animals in response to carcinogen. The findings presented in this study indicate failure to remove and repair damage in the condition of folate deficiency and suggest that the accumulation of …

Pleiotropic Regulatory Function Of The Lysr Family Transcriptional Regulator Cpsy During Streptococcus Iniae Systemic Infection, Jonathan Paul Allen

Wayne State University Dissertations

The ability of a pathogen to metabolically adapt to the local environment for optimal expression of virulence determinants is a continued area of research. Orthologs of the Streptococcus iniae LysR family regulator CpsY have been shown to regulate methionine biosynthesis and uptake pathways, but appear to influence expression of several virulence genes as well. A S. iniae mutant with an in-frame deletion of cpsY is highly attenuated in a zebrafish infection model. The cpsY deletion mutant displays a methionine-independent growth defect in serum, which differs from the methionine-dependent defect observed for orthologous mutants of S. mutans and S. agalactiae. …

Artificial And Natural Nucleic Acid Self Assembling Systems, Marcus Wood

Wayne State University Dissertations

Nucleic acids are good candidates for nanomachine construction. They participate in all the processes of life, and so can function as structural building blocks and dynamic catalysts. However, to use nucleic acids as nanomachines, a better understanding of their material properties, how to design structures using them, and their dynamics is needed. We have tried to address these issues, in a small way, with nucleic acid force field development, an attempt at nanostructural design and synthesis using DNA, and a study of the RNA/protein regulatory dynamics of the tryptophan regulatory attenuation protein.

Estrogen Sulfotransferase (Sult1e1) Expression And Function In Mcf10a-Series Breast Epithelial Cells: Role As A Modifier Of Breast Carcinogenesis And Regulation By Proliferation State, Jiaqi Fu

Wayne State University Dissertations

Estrogen sulfotransferase (SULT1E1) catalyzes the sulfonation of estrogens, which limits estrogen mitogenicity. TaqMan Gene Expression assays were used to profile the mRNA expression of estrogen receptor (ERα and ERβ) and estrogen metabolism enzymes including cytosolic sulfotransferases (SULT1E1, SULT1A1, SULT2A1, and SULT2B1), steroid sulfatase (STS), aromatase (CYP19), 17β-hydroxysteroid dehydrogenases (17βHSD1 and 2), CYP1B1, and catechol-O-methyltransferase (COMT) in an MCF10A-derived lineage cell culture model for basal-like human breast cancer progression and in ERα-positive luminal MCF7 breast cancer cells. Low levels of ERα and ERβ mRNA were present in MCF10A-derived cell lines. SULT1E1 mRNA was more abundant in confluent relative to subconfluent MCF10A …

Development Of Chemical Inducers Of Dimerization For Screening Competitive Histone Deactelyase Inhibitors, Emily Lynn Aubie

Wayne State University Dissertations

Histone Deacetylase (HDAC) proteins are transcriptional regulators that affect histone proteins, which are involved in packaging of DNA into chromosomes. HDACs have been linked to the proliferation of cancer through their role in transcriptional regulation. Due to these findings, HDAC inhibitors have been explored as anti-cancer agents. Several HDAC inhibitors are currently in various stages of clinical trials, and the inhibitor suberoyl anilide hydroxamic acid (SAHA) has been FDA approved for treatment of cutaneous T-Cell lymphoma. Currently, most of the known HDAC inhibitors are non-selective, which causes non-specific binding to the active sites of all HDAC isoforms, including those not …