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Articles 2221 - 2250 of 3170

Full-Text Articles in Genetics and Genomics

Reproductive Isolation In The Elegans-Group Of Caenorhabditis, Scott Everet Baird, Sara Rose Seibert Mar 2013

Reproductive Isolation In The Elegans-Group Of Caenorhabditis, Scott Everet Baird, Sara Rose Seibert

Biological Sciences Faculty Publications

Reproductive isolation is the basis of the Biological Species Definition and can be a driving force of speciation. Theoretical studies have provided models of how reproductive isolation can arise within individual species. Genetic tests of these models are limited to populations in which reproductive isolation is present but not complete. Here, reproductive isolation in the Elgans-Group of the nematode genus Caenorhabditis is reviewed. Pre-mating barriers, assortative fertilization and post-zygotic barriers all have been observed in this clade. In some combinations of species, fertile F1 hybrids can be obtained. Therefore, the Elegans-Group of Caenorhabditis is poised to become an important experimental …


The Telomere And Telomerase Activity, Kerrie Conwell Mar 2013

The Telomere And Telomerase Activity, Kerrie Conwell

The Review: A Journal of Undergraduate Student Research

In lieu of an abstract, below is the article's first paragraph.

In the past few years, a new area of genetics has emerged that has scientists in many other fields intrigued. The discovery of telomeres, the end segments on our chromosomes, and the enzyme that controls them, has evoked an interest in professionals from a wide range of specialties. Articles on the subject have appeared in journals of cell and molecular biology, microbiology, genetics, gerontology, and have even surfaced in the popular media. There is already a wealth of information to be found on the topic, yet there is many …


Sire Evaluation For Milking Duration, James Macedo Mar 2013

Sire Evaluation For Milking Duration, James Macedo

Dairy Science

The objective of this study was to utilize electronically recorded data from on-farm milk recording systems and herd management software to determine if a sire has a genetic influence on his daughter’s milking duration. Measurements of milking duration from three dairy facilities were taken between January 27, 2013 and January 31, 2013. These measurements supplied 25,070 observations, corresponding to 9,418 cows and 895 sires. These data were evaluated with a SAS alongside a herd-mate comparison. The statistical analysis demonstrated that a sire does have a genetic influence on the milking duration of his progeny. The Van Beek Brothers and Dairyland …


Atypical Glycolysis In Clostridium Thermocellum, Jilai Zhou, Daniel G. Olson, D. Aaron Argyros, Yu Deng, Walter M. Van Gulik, Johannes P. Van Dijken, Lee R. Lynd Feb 2013

Atypical Glycolysis In Clostridium Thermocellum, Jilai Zhou, Daniel G. Olson, D. Aaron Argyros, Yu Deng, Walter M. Van Gulik, Johannes P. Van Dijken, Lee R. Lynd

Dartmouth Scholarship

Cofactor specificities of glycolytic enzymes in Clostridium thermocellum were studied with cellobiose-grown cells from batch cultures. Intracellular glucose was phosphorylated by glucokinase using GTP rather than ATP. Although phosphofructokinase typically uses ATP as a phosphoryl donor, we found only pyrophosphate (PPi)-linked activity. Phosphoglycerate kinase used both GDP and ADP as phosphoryl acceptors. In agreement with the absence of a pyruvate kinase sequence in the C. thermocellum genome, no activity of this enzyme could be detected. Also, the annotated pyruvate phosphate dikinase (ppdk) is not crucial for the generation of pyruvate from phosphoenolpyruvate (PEP), as deletion of the ppdk gene did …


Ikkβ In Myeloid Cells Controls The Host Response To Lethal And Sublethal Francisella Tularensis Lvs Infection, Sylvia Samaniego, Kenneth B. Marcu Jan 2013

Ikkβ In Myeloid Cells Controls The Host Response To Lethal And Sublethal Francisella Tularensis Lvs Infection, Sylvia Samaniego, Kenneth B. Marcu

Department of Biochemistry and Cell Biology Faculty Publications

Background

The NF-κB activating kinases, IKKα and IKKβ, are key regulators of inflammation and immunity in response to infection by a variety of pathogens. Both IKKα and IKKβ have been reported to modulate either pro- or anti- inflammatory programs, which may be specific to the infectious organism or the target tissue. Here, we analyzed the requirements for the IKKs in myeloid cells in vivo in response to Francisella tularensis Live Vaccine Strain (Ft. LVS) infection.

Methods and Principal Findings

In contrast to prior reports in which conditional deletion of IKKβ in the myeloid lineage promoted survival and conferred resistance …


The Drosophila Interactions Database: Integrating The Interactome And Transcriptome, Thilakam Murali Jan 2013

The Drosophila Interactions Database: Integrating The Interactome And Transcriptome, Thilakam Murali

Wayne State University Dissertations

In this thesis I describe the integration of heterogeneous interaction data for Drosophila into DroID, the Drosophilainteractions database, making it a one-stop public resource for interaction data. I have also made it possible to filter the interaction data using gene expression data to generate context-relevant networks making DroID a one-of-a kind resource for biologists. In the two years since the upgraded DroID has been available, several studies have used the heterogeneous interaction data in DroID to advance our understanding of Drosophila biology thus validating the need for such a resource for biologists. In addition to this, I have identified …


Dissection Of Stress Response Networks Regulating Multiple Stresses In Rice, Rafi Shaik Jan 2013

Dissection Of Stress Response Networks Regulating Multiple Stresses In Rice, Rafi Shaik

Dissertations, Master's Theses and Master's Reports - Open

Important food crops like rice are constantly exposed to various stresses that can have devastating effect on their survival and productivity. Being sessile, these highly evolved organisms have developed elaborate molecular machineries to sense a mixture of stress signals and elicit a precise response to minimize the damage. However, recent discoveries revealed that the interplay of these stress regulatory and signaling molecules is highly complex and remains largely unknown. In this work, we conducted large scale analysis of differential gene expression using advanced computational methods to dissect regulation of stress response which is at the heart of all molecular changes …


Gene Transfer In A Newly Established Spontaneous Feline Fibrosarcoma Cell Line, Rounak Nande Jan 2013

Gene Transfer In A Newly Established Spontaneous Feline Fibrosarcoma Cell Line, Rounak Nande

Theses, Dissertations and Capstones

Fibrosarcoma is a deadly disease in cats and is most often located at classical vaccine injections sites. More rare forms of spontaneous non-vaccination site (NSV) fibrosarcomas have been described and have been found associated to genetic alterations.

Purpose of this study was to compare the efficacy of adenoviral gene therapy in NVS fibrosarcoma. The NVS fibrosarcoma cell line (Cocca-6A) was isolated from a spontaneous fibrosarcoma that occurred in a domestic calico cat. Cocca-6A fibrosarcoma cells were morphologically and cytogenetically characterized. The feline cells were karyotyped and their chromosome number was counted using a Giemsa staining. Giemsa block staining of metaphase …


Isolation And Characterization Of A Full Length Retrotransposon: Cr1, Cassandra Michelle Weason Jan 2013

Isolation And Characterization Of A Full Length Retrotransposon: Cr1, Cassandra Michelle Weason

Electronic Theses and Dissertations

Transposable elements (TE) have been found in all genomes and have clearly had a major impact on genomic evolution. The described research takes advantage of an abundant transposable element present in the genomes of Anseriformes, called Chicken Repeat 1 (CR1). Previous studies in Anseriformes suggest that CR1 is presently active in recent evolutionary time (St. John, 2004). A fully functional CR1 element itself is approximately 4.5kb long (Kajikawa, 1997), where almost all inserts are truncated at the 5' end. Because of this, it has been a challenge to isolate a full length, active element. In this study, two CR1 sequences …


Novel Functions For Neuronal Rna Processing Bodies In The Control Of Axon Terminal Growth In Drosophila Melanogaster, Sarala Joshi Pradhan Jan 2013

Novel Functions For Neuronal Rna Processing Bodies In The Control Of Axon Terminal Growth In Drosophila Melanogaster, Sarala Joshi Pradhan

Electronic Theses and Dissertations

In this thesis we first characterized neuronal functions for HPat/Pat1, a core component of RNA processing bodies or "P bodies". We show that hpat mutants exhibit a strong synaptic hyperplasia at the developing and acutely stimulated Drosophila larval neuromuscular junctions (NMJs). The synaptic defects observed in hpat mutants are associated with rearrangement of the axonal microtubule cytoskeleton suggesting that HPat negatively regulates presynaptic microtubule-based growth during NMJ development. Interestingly, we also found that both pre-and postsynaptic HPat expression controlled rapid axon terminal growth in response to acute spaced synaptic stimulation. We also demonstrate that HPat interacts genetically with the catalytic …


Afraid To Help: Social Anxiety Partially Mediates The Association Between 5-Httlpr Triallelic Genotype And Prosocial Behavior, Scott F. Stoltenberg, Christa C. Christ, Gustavo Carlo Jan 2013

Afraid To Help: Social Anxiety Partially Mediates The Association Between 5-Httlpr Triallelic Genotype And Prosocial Behavior, Scott F. Stoltenberg, Christa C. Christ, Gustavo Carlo

Department of Psychology: Faculty Publications

There is growing evidence that the serotonin system influences prosocial behavior. We examined whether anxiety mediated the association between variation in the serotonin transporter gene regulatory region (5-HTTLPR) and prosocial behavior. We collected self-reported tendencies to avoid certain situations and history of helping others using standard instruments and buccal cells for standard 5-HTTLPR genotyping from 398 undergraduate students. Triallelic 5-HTTLPR genotype was significantly associated with prosocial behavior and the effect was partially mediated by social anxiety, such that those carrying the S′ allele reported higher levels of social avoidance and lower rates of helping others. These results are consistent with …


Assessment Of Genetic Diversity In Peruvian Amaranth (Amaranthus Caudatus And A. Hybridus) Germplasm Using Single Nucleotide Polymorphism Markers [Abstract], Felix Jimenez, Peter J. Maughan, Aquilino Alvarez, Kiel D. Kielinski, Scott M. Smith, Donald B. Pratt, David B. Elzinga, Eric N. Jellen Jan 2013

Assessment Of Genetic Diversity In Peruvian Amaranth (Amaranthus Caudatus And A. Hybridus) Germplasm Using Single Nucleotide Polymorphism Markers [Abstract], Felix Jimenez, Peter J. Maughan, Aquilino Alvarez, Kiel D. Kielinski, Scott M. Smith, Donald B. Pratt, David B. Elzinga, Eric N. Jellen

Faculty Publications

No abstract provided.


The Role Of Cardiolipin In Iron Homeostasis And Glutathione Metabolism, Vinay A. Patil Jan 2013

The Role Of Cardiolipin In Iron Homeostasis And Glutathione Metabolism, Vinay A. Patil

Wayne State University Dissertations

Cardiolipin (CL) is the signature phospholipid of mitochondrial membranes, where it is synthesized locally and plays a critical role in mitochondrial bioenergetic functions. Inside the mitochondria, CL is a critical target of mitochondrial generated reactive oxygen species (ROS) and regulates signaling events related to apoptosis and aging. CL deficiency causes perturbation of signaling pathways outside the mitochondria, including the PKC-Slt2 cell integrity pathway and the high osmolarity glycerol (HOG) pathway, and is a key player in the cross-talk between the mitochondria and the vacuole. The importance of CL in human health is underscored by the observation that perturbation of CL …


Development Of 11 Polymorphic Microsatellite Markers For Xylocarpus Granatum (Meliaceae) Using Next-Generation Sequencing Technology, Yuki Tomizawa, Yoshimi Shinmura, Alison K S Wee, Koji Takayama, Takeshi Asakawa, Orlex Baylen Yllano, Severino G. Salmo Iii, Erwin Riyanto Ardli, Nguyen Xuan Tung, Norhaslinda Binti Malekal, Onrizal Onrizal, Sankararamasubramanian H. Meenakshisundaram, Sarawood Sungkaew, Mohd Nazre Saleh, Bayu Adjie, Khin Khin Soe, Emiko Oguri, Noriaki Murakami, Yasuyuki Watano, Shigeyuki Baba, Edward L. Webb, Tadashi Kajita Jan 2013

Development Of 11 Polymorphic Microsatellite Markers For Xylocarpus Granatum (Meliaceae) Using Next-Generation Sequencing Technology, Yuki Tomizawa, Yoshimi Shinmura, Alison K S Wee, Koji Takayama, Takeshi Asakawa, Orlex Baylen Yllano, Severino G. Salmo Iii, Erwin Riyanto Ardli, Nguyen Xuan Tung, Norhaslinda Binti Malekal, Onrizal Onrizal, Sankararamasubramanian H. Meenakshisundaram, Sarawood Sungkaew, Mohd Nazre Saleh, Bayu Adjie, Khin Khin Soe, Emiko Oguri, Noriaki Murakami, Yasuyuki Watano, Shigeyuki Baba, Edward L. Webb, Tadashi Kajita

Environmental Science Faculty Publications

Human impacts have seriously damaged mangroves, and conservation of mangroves will require information on local and regional population genetic structures. Here, we report the development and polymorphism of eleven novel microsatellite markers, developed using next- generation sequencing on 56 samples of widespread man- grove species Xylocarpus granatum (Meliaceae) from nine populations across the Indo-West Pacific region. All loci were found to be polymorphic, with the number of alleles per locus ranging from four to 19. In a population from Sabah (Malaysia), the mean observed and expected heterozygosity per locus was 0.59 and 0.58, respectively. No null allele, significant linkage disequilibrium …


Genetic Diversity In The Modern Horse Illustrated From Genome-Wide Snp Data, Jessica Lynn Petersen, James R. Mickelson, E. Gus Cothran, Lisa S. Andersson, Jeanette Axelsson, Ernie Bailey, Danika L. Bannasch, Matthew M. Binns, Alexandre S. Borges, Pieter Brama, Artur Da Câmaro Machado, Ottmar Distl, Michela Felicetti, Laura Fox-Clipsham, Kathryn T. Graves, Gérard Guérin, Bianca Haase, Telhisa Hasegawa, Karin Hemmann, Emmeline W. Hill, Tosso Leeb, Gabriella Lindgren, Hannes Lohi, Maria Susana Lopes, Beatrice A. Mcgivney, Sofia Mikko, Nicholas Orr, M. Cecilia T. Penedo, Richard J. Piercy, Marja Raekallio, Stefan Rieder, Knut H. Røed, Maurizio Silvestrelli, June Swinburne, Teruaki Tozaki, Mark Vaudin, Claire M. Wade, Molly E. Mccue Jan 2013

Genetic Diversity In The Modern Horse Illustrated From Genome-Wide Snp Data, Jessica Lynn Petersen, James R. Mickelson, E. Gus Cothran, Lisa S. Andersson, Jeanette Axelsson, Ernie Bailey, Danika L. Bannasch, Matthew M. Binns, Alexandre S. Borges, Pieter Brama, Artur Da Câmaro Machado, Ottmar Distl, Michela Felicetti, Laura Fox-Clipsham, Kathryn T. Graves, Gérard Guérin, Bianca Haase, Telhisa Hasegawa, Karin Hemmann, Emmeline W. Hill, Tosso Leeb, Gabriella Lindgren, Hannes Lohi, Maria Susana Lopes, Beatrice A. Mcgivney, Sofia Mikko, Nicholas Orr, M. Cecilia T. Penedo, Richard J. Piercy, Marja Raekallio, Stefan Rieder, Knut H. Røed, Maurizio Silvestrelli, June Swinburne, Teruaki Tozaki, Mark Vaudin, Claire M. Wade, Molly E. Mccue

Department of Animal Science: Faculty Publications

Horses were domesticated from the Eurasian steppes 5,000–6,000 years ago. Since then, the use of horses for transportation, warfare, and agriculture, as well as selection for desired traits and fitness, has resulted in diverse populations distributed across the world, many of which have become or are in the process of becoming formally organized into closed, breeding populations (breeds). This report describes the use of a genome-wide set of autosomal SNPs and 814 horses from 36 breeds to provide the first detailed description of equine breed diversity. FST calculations, parsimony, and distance analysis demonstrated relationships among the breeds that largely …


Genome-Wide Analysis Reveals Selection For Important Traits In Domestic Horse Breeds, Jessica Lynn Petersen, James R. Mickelson, Aaron K. Rendahl, Stephanie K. Valberg, Lisa S. Andersson, Ernie Bailey, Danika L. Bannasch, Matthew M. Binns, Alexandre S. Borges, Pieter Brama, Artur Da Câmara Machado, Stefano Capomaccio, Katia Cappelli, E. Gus Cothran, Ottmar Distl, Laura Fox-Clipsham, Kathryn T. Graves, Gérard Guérin, Bianca Haase, Telhia Hasegawa, Karin Hemmann, Emmeline W. Hill, Tosso Leeb, Gabriella Lindgren, Hannes Lohi, Maria Susana Lopes, Beatrice A. Mcgivney, Sofia Mikko, Nicholas Orr, M. Cecilia T. Penedo, Richard J. Piercy, Marja Raekallio, Stefan Rieder, Knut H. Røed, June Swinburne, Teruaki Tozaki, Mark Vaudin, Claire M. Wade, Molly E. Mccue Jan 2013

Genome-Wide Analysis Reveals Selection For Important Traits In Domestic Horse Breeds, Jessica Lynn Petersen, James R. Mickelson, Aaron K. Rendahl, Stephanie K. Valberg, Lisa S. Andersson, Ernie Bailey, Danika L. Bannasch, Matthew M. Binns, Alexandre S. Borges, Pieter Brama, Artur Da Câmara Machado, Stefano Capomaccio, Katia Cappelli, E. Gus Cothran, Ottmar Distl, Laura Fox-Clipsham, Kathryn T. Graves, Gérard Guérin, Bianca Haase, Telhia Hasegawa, Karin Hemmann, Emmeline W. Hill, Tosso Leeb, Gabriella Lindgren, Hannes Lohi, Maria Susana Lopes, Beatrice A. Mcgivney, Sofia Mikko, Nicholas Orr, M. Cecilia T. Penedo, Richard J. Piercy, Marja Raekallio, Stefan Rieder, Knut H. Røed, June Swinburne, Teruaki Tozaki, Mark Vaudin, Claire M. Wade, Molly E. Mccue

Department of Animal Science: Faculty Publications

Intense selective pressures applied over short evolutionary time have resulted in homogeneity within, but substantial variation among, horse breeds. Utilizing this population structure, 744 individuals from 33 breeds, and a 54,000 SNP genotyping array, breed-specific targets of selection were identified using an FST-based statistic calculated in 500-kb windows across the genome. A 5.5-Mb region of ECA18, in which the myostatin (MSTN) gene was centered, contained the highest signature of selection in both the Paint and Quarter Horse. Gene sequencing and histological analysis of gluteal muscle biopsies showed a promoter variant and intronic SNP of MSTN were …


Genetic Interaction Influenced By Fluvastatin And Tgfb, Rebekah Rifareal Jan 2013

Genetic Interaction Influenced By Fluvastatin And Tgfb, Rebekah Rifareal

AUCTUS: The Journal of Undergraduate Research and Creative Scholarship

I was looking for an opportunity to network with researchers at VCU and found this program that would provide the perfect atmosphere to do so. The added benefit of HERO was that I also got the opportunity to network with other undergraduates interested in research from VCU as well as other institutions.


The Role Of Retrotransposons In Gene Family Expansions: Insights From The Mouse Abp Gene Family, Václav Janoušek, Robert C. Karn, Christina M. Laukaitis Jan 2013

The Role Of Retrotransposons In Gene Family Expansions: Insights From The Mouse Abp Gene Family, Václav Janoušek, Robert C. Karn, Christina M. Laukaitis

Scholarship and Professional Work - LAS

Background: Retrotransposons have been suggested to provide a substrate for non-allelic homologous recombination (NAHR) and thereby promote gene family expansion. Their precise role, however, is controversial. Here we ask whether retrotransposons contributed to the recent expansions of the Androgen-binding protein (Abp) gene families that occurred independently in the mouse and rat genomes. Results: Using dot plot analysis, we found that the most recent duplication in the Abp region of the mouse genome is flanked by L1Md_T elements. Analysis of the sequence of these elements revealed breakpoints that are the relicts of the recombination that caused the duplication, confirming that the …


Characterization And Distribution Of Novel Non-Ltr Retroelements Driving High Telomere Rflp Diversity In Clonal Lines Of Magnaporthe Oryzae, John H. Starnes Jan 2013

Characterization And Distribution Of Novel Non-Ltr Retroelements Driving High Telomere Rflp Diversity In Clonal Lines Of Magnaporthe Oryzae, John H. Starnes

Theses and Dissertations--Plant Pathology

The filamentous ascomycete fungus Magnaporthe oryzae is a pathogen of over 50 genera of grasses. Two important diseases it can cause are gray leaf spot in Lolium perenne (perennial ryegrass) and blast in Oryza sativa (rice). The telomeres of M. oryzae isolates causing gray leaf spot are highly variable, and can spontaneously change during fungal culture. In this dissertation, it is shown that a rice-infecting isolate is much more stable at the telomeres than an isolate from gray leaf spot. To determine the molecular basis of telomere instability several gray leaf spot isolates telomeres were cloned, which revealed two non-LTR …


Next-Peak: A Normal-Exponential Two-Peak Model For Peak-Calling In Chip-Seq Data, Nak-Kyeong Kim, Rasika V. Jayatillake, John L. Spouge Jan 2013

Next-Peak: A Normal-Exponential Two-Peak Model For Peak-Calling In Chip-Seq Data, Nak-Kyeong Kim, Rasika V. Jayatillake, John L. Spouge

Mathematics & Statistics Faculty Publications

Background: Chromatin immunoprecipitation followed by high-throughput sequencing (ChIP-seq) can locate transcription factor binding sites on genomic scale. Although many models and programs are available to call peaks, none has dominated its competition in comparison studies.

Results: We propose a rigorous statistical model, the normal-exponential two-peak (NEXT-peak) model, which parallels the physical processes generating the empirical data, and which can naturally incorporate mappability information. The model therefore estimates total strength of binding (even if some binding locations do not map uniquely into a reference genome, effectively censoring them); it also assigns an error to an estimated binding location. The comparison study …


Comparison Of Th1 Cytokines And T Cell Markers Gene Expressions Between Virulent And An Attenuated Eiav Vaccine Strain, Talia R. Henkle Jan 2013

Comparison Of Th1 Cytokines And T Cell Markers Gene Expressions Between Virulent And An Attenuated Eiav Vaccine Strain, Talia R. Henkle

Lewis Honors College Capstone Collection

The equine infectious anemia virus (EIAV) is closely related to HIV and has been used as a model to identify protective mechanisms against lentivirus infection. In horses, EIA infection progresses for about a year before infected horses manage to control virus replication. This naturally-gained protection is absolutely dependent on active immune responses as evidenced by the fact that immunosuppressive drugs can induce the recurrence of disease. As the resolution of initial viremia correlates with the appearance of virus specific cytotoxic T lymphocytes (CTL), we believe that cellular immune responses play a key role in controlling EIAV in the horse. In …


Phylogeography Of The Christmas Tree Worm Spirobranchus Corniculatus (Annelida, Serpulidae) From The Coral Triangle, Australia, And Fiji, Abril Iñiguez, Craig J. Starger, Elena Kupriyanova, Demian Willette, Tristan Varman, Joshua A. Drew, Abdul Hamid Toha, Benedict Maralit, Kent E. Carpenter, Paul H. Barber Jan 2013

Phylogeography Of The Christmas Tree Worm Spirobranchus Corniculatus (Annelida, Serpulidae) From The Coral Triangle, Australia, And Fiji, Abril Iñiguez, Craig J. Starger, Elena Kupriyanova, Demian Willette, Tristan Varman, Joshua A. Drew, Abdul Hamid Toha, Benedict Maralit, Kent E. Carpenter, Paul H. Barber

Biological Sciences Faculty Publications

Christmas Tree Woms is a common name given to a group of large and colourful serpulid polychaetes of the genus Spirobranchus that are obligate symbionts of hermatypic corals commonly found in tropical and subtropical regions world-wide. While current taxonomic species delimitations of these worms are based almost exclusively on the morphology of opercular structures, particularly the number and shape of calcareous opercular horns, high levels of intraspecific variation in this morphological feature have made species boundaries within the genus difficult to resolve. Molecular work to differentiate serpulid worms has long been hampered by the availability of informative markers. Recent work …


Meckel Gruber Syndrome: Second Trimester Diagnosis Of A Case In A Non-Consanguineous Marriage, Areej Alam, Mehreen Adhi, Raffat Bano, Aisha Zubair, Ammara Mushtaq Jan 2013

Meckel Gruber Syndrome: Second Trimester Diagnosis Of A Case In A Non-Consanguineous Marriage, Areej Alam, Mehreen Adhi, Raffat Bano, Aisha Zubair, Ammara Mushtaq

Department of Obstetrics & Gynaecology

Meckel-Gruber Syndrome (MKS) is a rare, autosomal recessive genetic disorder, incompatible with life. It is characterized by enlarged polycystic kidneys and post axial polydactyly. Foetal or neonatal death is caused by pulmonary hypoplasia. We report a case of a 35 year old woman who presented at 7 weeks of gestation of her sixth pregnancy. A transabdominal anomaly ultrasound performed for her current pregnancy at 18 weeks of gestation showed features consistent with MKS. The termination of pregnancy was declined and a live newborn female was delivered via an emergency caeserean section at 34 weeks of gestation due to previous history …


Changes In Cell Morphology And The Cellular Localization Of Protein Kinase Dsk1 In Schizosaccharomyces Pombe In Response To Butylated Hydroxyanisole, Jacqueline T. Humphries Jan 2013

Changes In Cell Morphology And The Cellular Localization Of Protein Kinase Dsk1 In Schizosaccharomyces Pombe In Response To Butylated Hydroxyanisole, Jacqueline T. Humphries

Scripps Senior Theses

Dsk1 is the Schizosaccharomyces pombe functional homolog of human SRPK1, an SR protein kinase that regulates localization and function of SR protein splicing factors involved in transcription, alternative splicing, and mRNA export. It has been shown that a Dsk1 deletion strain of S. pombe is sensitive to exposure to butylated hydroxyanisole (BHA), a phenol derivative commonly used as a food preservative. Little is known about how BHA interacts with cells on a functional level, although it has been shown to be cytotoxic and tumorigenic. The aims of this thesis are to study the effect of BHA on eukaryotic cells and …


A Path To Success? A Review Of Evolution, Development, And The Predictable Genome By David L. Stern, Hope Hollocher, Charles H. Pence, Grant Ramsey, Michelle M. Wirth Jan 2013

A Path To Success? A Review Of Evolution, Development, And The Predictable Genome By David L. Stern, Hope Hollocher, Charles H. Pence, Grant Ramsey, Michelle M. Wirth

Faculty Publications

No abstract provided.


Staffan Müller-Wille And Hans-Jörg Rheinberger, A Cultural History Of Heredity, Charles H. Pence Jan 2013

Staffan Müller-Wille And Hans-Jörg Rheinberger, A Cultural History Of Heredity, Charles H. Pence

Faculty Publications

No abstract provided.


Aβ Alters The Dna Methylation Status Of Cell-Fate Genes In An Alzheimer’S Disease Model, Gary D. Isaacs, Noor Taher, Courtney Mckenzie, Rebecca Garrett, Matthew Baker, Nena Fox Jan 2013

Aβ Alters The Dna Methylation Status Of Cell-Fate Genes In An Alzheimer’S Disease Model, Gary D. Isaacs, Noor Taher, Courtney Mckenzie, Rebecca Garrett, Matthew Baker, Nena Fox

Faculty Publications and Presentations

Alzheimer’s disease (AD) is characterized by neurofibrillary tangles and extracellular amyloid-β plaques (Aβ). Despite ongoing research, some ambiguity remains surrounding the role of Aβ in the pathogenesis of this neurodegenerative disease. While several studies have focused on the mutations associated with AD, our understanding of the epigenetic contributions to the disease remains less clear. To that end, we determined the changes in DNA methylation in differentiated human neurons with and without Aβ treatment. We isolated the DNA from neurons treated with Aβ or vehicle, and digested the two samples with either a methylation-sensitive (HpaII) or a methylation-insensitive (MspI) restriction endonuclease. …


Understanding Osmoregulation And Immunity In Heteromyid Rodents Through Insights Gained From Rna-Seq, Nicholas John Marra Jan 2013

Understanding Osmoregulation And Immunity In Heteromyid Rodents Through Insights Gained From Rna-Seq, Nicholas John Marra

Open Access Dissertations

Understanding the genetic basis of adaptation is one of the central questions of evolutionary genetics. In the face of selective pressure, individuals with adaptive phenotypes survive and pass on their beneficial alleles that conferred this fitness advantage. Over sufficient time scales and under strong selection, differences accumulate between taxa in the form of physical and/or behavioral traits that have been shaped differently. By looking at the transcriptomes of related taxa we can identify sequence and regulatory differences that represent molecular signatures of these different selection regimes. When we study these differences between taxa that have evolved under opposing selective forces …


Isolation Of Ribosomal Mutants With A Decreased Tendency For Premature Release Of Peptidyl-Trna, Katherine Ams Jan 2013

Isolation Of Ribosomal Mutants With A Decreased Tendency For Premature Release Of Peptidyl-Trna, Katherine Ams

Summer Community of Scholars Posters (RCEU and HCR Combined Programs)

No abstract provided.


Protective Effects Of The Alcohol Dehydrogenase-Adh1b Allele, Neil Dodge Jan 2013

Protective Effects Of The Alcohol Dehydrogenase-Adh1b Allele, Neil Dodge

Wayne State University Theses

Alcohol dehydrogenase is a critical enzyme in the metabolism of alcohol. Expression of three alleles at the ADH1B locus results in enzymes that differ in turnover rate and affinity for alcohol. The ADH1B*3 allele, which appears to be unique to African Americans, is associated with more rapid alcohol metabolism than the more prevalent ADH1B*1 allele. It has been previously demonstrated that the presence of at least one maternal ADH1B*3 allele confers a protective effect against alcohol teratogenicity in African American infants and children. This study was conducted to determine whether the presence of the ADH1B*3 allele in the mother or …