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2013

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Full-Text Articles in Life Sciences

Determining Parentage And The Effects Of Relatedness On Play Partner Preference In Belding's Ground Squirrels, Jessica Weidenbach Dec 2013

Determining Parentage And The Effects Of Relatedness On Play Partner Preference In Belding's Ground Squirrels, Jessica Weidenbach

Master's Theses

I investigated 1) multiple paternity in Belding’s ground squirrels (Urocitellus beldingi) and 2) social partner preferences in juvenile U. beldingi. Prior work with blood allozymes demonstrated multiple paternity in U. beldingi litters. I evaluated paternity using microsatellite DNA analysis, which is more accurate than examining blood allozymes. My results indicate that multiple paternity in U. beldingi is more extensive than previously shown, occurring in about 90% of litters with more than one juvenile, and averaging 2.95 fathers in multiply sired litters. I also evaluated the hypothesis that play and other social behavior promotes bonding among juvenile female U ...


Phylogeographic Inference Of Insular Mule Deer (Odocoileus Hemionus) Divergence In North America's Desert Southwest, Ona Alminas Dec 2013

Phylogeographic Inference Of Insular Mule Deer (Odocoileus Hemionus) Divergence In North America's Desert Southwest, Ona Alminas

Theses and Dissertations

Though mule deer (Odocoileus hemionus) persist in robust populations throughout most of their North American distribution, nearly 60% of their historic range in México has declined due to habitat loss and unregulated hunting. Two of the six subspecies inhabiting México's deserts and Baja California peninsula are of conservation concern, occurring on land bridge islands in the Pacific Ocean (O. h. cerrosensis on Cedros Island: threatened) and in the Sea of Cortés (O. h. sheldoni on Tiburón Island: endangered). Focusing on the desert southwest (n=449 deer), we obtained 1,611 bp of mtDNA sequence (control region: 583 bp; cytochrome ...


Evaluating The Influence Of Environmental Factors On The Rate Of Extra-Pair Matings In Tropical And Temperate Populations Of The House Wren (Troglodytes Aedon), Kaitlin Claire Mckenney Dec 2013

Evaluating The Influence Of Environmental Factors On The Rate Of Extra-Pair Matings In Tropical And Temperate Populations Of The House Wren (Troglodytes Aedon), Kaitlin Claire Mckenney

Theses and Dissertations

Considerable variation exists in the rate of extra-pair matings (EPMs) in birds. Environmental variability likely influences EPM rates within species, but the effects of local environmental factors on EPM rates are largely unpredictable. To determine whether broad-scale environmental factors might be better predictors of EPM rates within species, we quantified levels of extra-pair paternity in the house wren (Troglodytes aedon) in four populations spanning a range of latitude, elevation, and primary productivity (measured by actual evapotranspiration rates). Our results indicated an intermediate and variable level of EPM among populations (6 -31% extra-pair young) that was not significantly affected by 3 ...


A Synthetic Biology Approach To Engineering New Anticancer Agents, Shane Robert Wesener Dec 2013

A Synthetic Biology Approach To Engineering New Anticancer Agents, Shane Robert Wesener

Theses and Dissertations

Histone deacetylase (HDAC) inhibitors are becoming increasingly valuable therapeutic agents in treatment of several types of malignancies. FK228 is a depsipeptde anticancer compound produced by Chromobacterium violaceum no. 968 through a nonribosomal peptide synthetase (NRPS)-polyketide synthase (PKS) hybrid assembly line. In the present study, reconstitution of the biosynthetic pathway responsible for the production of FK228 revealed cross-talk between modular PKS and fatty acid synthase. This pathway contains two PKS modules on the DepBC enzymes that lack a functional acyltransferase (AT) domain, and no apparent AT-encoding gene exists within the gene cluster or its vicinity. We reported through heterologous expression ...


Therapeutic Efficacy Of P53 Restoration In Mdm2-Overexpressing Tumors, Qin Li Dec 2013

Therapeutic Efficacy Of P53 Restoration In Mdm2-Overexpressing Tumors, Qin Li

UT GSBS Dissertations and Theses (Open Access)

The TP53 tumor suppressor is the most mutated gene in human cancers. Recent studies using genetically modified mouse models have shown that restoring the expression of wild-type p53 has led to tumor growth suppression in various types of tumors lacking p53. Other mechanisms, e.g. upregulation of Mdm2 levels, exist in tumors to inactivate the p53 pathway. Mdm2, an E3 ubiquitin-ligase that targets p53 for proteasomal degradation, is present at high levels in many tumors with wild-type p53. In this study, we probed the effects of restoring p53 activity in Mdm2-overexpressing tumors genetically using animal models. Here we demonstrated high ...


The Role Of Histone H3 And H4 In Centromere Function And Genome Integrity, Payel Chaudhuri Dec 2013

The Role Of Histone H3 And H4 In Centromere Function And Genome Integrity, Payel Chaudhuri

Theses and Dissertations

Histone H2A plays an important role in chromosomal segregation among parent and daughter cells during mitosis. While it is established that this histone is important in maintaining chromosome number in cell, further work is carried out to explore the role of other histones like H3 and H4 for similar effects. A systematic study is initiated by screening a library based on mutation of different amino acid residues in these histones. This detailed screening identified specific regions within H3 and H4, which are critically important for centromeric function. These histones residing near the DNA entry/exit region of nucleosome effects the ...


Sex Determination Using Discriminant Function Analysis In Hispanic Children And Adolescents: A Lateral Cephalometric Study, Alyssa E. Sprowl Dec 2013

Sex Determination Using Discriminant Function Analysis In Hispanic Children And Adolescents: A Lateral Cephalometric Study, Alyssa E. Sprowl

UNLV Theses, Dissertations, Professional Papers, and Capstones

Lateral cephalometric radiographs have been used for years to help diagnose skeletal and dental patterns in Orthodontics. Within the last decade, these radiographs have caught the interest of the department of Anthropology for the identification of gender within the adult and adolescent population. Numerous publications have been made but failed to identify sexual dimorphism in the pre-adolescent population. 303 lateral cephalograms of pre and post Latino adolescence age ranging from 6.5 to 17.9 years old were obtained from University of Nevada, Las Vegas (UNLV) digital database. 25 variables were identified and plotted with all linear and angular measurements ...


Population Demographics And Genetic Structure Of Black Bears In Coastal Louisiana, Jesse Charles Troxler Dec 2013

Population Demographics And Genetic Structure Of Black Bears In Coastal Louisiana, Jesse Charles Troxler

Masters Theses

The range and abundance of the Louisiana black bear (Ursus americanus luteolus) were greatly diminished during the 20th century. This subspecies was reduced to 3 small, isolated subpopulations in Louisiana as bottomland hardwood habitat was converted to agriculture. These bears were listed as threatened by the U.S. Fish and Wildlife Service in 1992 and a recovery plan was published in 1995. Recovery requires estimates of population parameters to evaluate current population status and future viability. I conducted a mark-recapture study from 2010 to 2012 to estimate demographic parameters of the coastal population of Louisiana black bears. Because inbreeding is ...


The Evolution And Expression Of Drosophila Meiosis Genes, Danielle Jeanine Beekman Dec 2013

The Evolution And Expression Of Drosophila Meiosis Genes, Danielle Jeanine Beekman

Theses and Dissertations

Drosophila melanogaster is unique amongst model organisms in that males utilize achiasmatic meiosis, where formation of the synaptonemal complex (SC) and recombination are absent. Most organisms require the SC and chiasmata for the successful completion of meiosis and production of viable gametes, making D. melanogaster an ideal system for the study of meiotic variation. The goal of my research was to examine in detail the origin and evolution of male achiasmatic meiosis in Diptera. This was done in three parts: 1) assessing the presence and absence of meiosis genes across dipteran species, 2) analyzing the rate of evolution of Drosophila ...


The Molecular Evolution Of Reproduction In Animals: Insights From Sexual And Asexual Rotifers, Sara Jeanette Hanson Dec 2013

The Molecular Evolution Of Reproduction In Animals: Insights From Sexual And Asexual Rotifers, Sara Jeanette Hanson

Theses and Dissertations

Sex and meiosis are ubiquitous in eukaryotes as the primary mode of reproduction. This suggests that despite the theoretical energetic advantages of asexual reproduction, organisms capable of sexual reproduction are at a much greater long-term evolutionary advantage. Rotifers, a group of microinvertebrates, offer unique opportunities to examine the evolution of sex due to their extensive proliferation, successful adaptation to a wide variety of ecological niches, and the diversity of reproductive modes represented in the group. The cyclically parthenogenetic monogonont rotifers have overcome constraints on the loss of sexual reproduction in order to frequently transition between sexual and asexual generations, making ...


Genetic Determinants Of Metabolic Syndrome In Lyon Hypertensive Rats, Man Chun John Ma Dec 2013

Genetic Determinants Of Metabolic Syndrome In Lyon Hypertensive Rats, Man Chun John Ma

Theses and Dissertations

Metabolic Syndrome (MetS) is a collective term for a cluster of disorders, including dysglycemia, central obesity, dyslipidemia, hypertension, and eventual end organ damage. The combination of these disorders increases the risk of many kinds of end organ damages, including coronary heart disease, kidney failure, and cirrhosis. MetS is highly prevalent in the United States, affecting one third of the U.S. population in a 2009 estimate.

The Lyon strains are three rat strains selectively inbred from the same colony of outbred rats for different blood pressure levels. The Lyon Hypertensive (LH) strain, in addition to its essential hypertension phenotype, also ...


Hox Gene Regulation And Function During Zebrafish Embryogenesis: A Dissertation, Steven E. Weicksel Oct 2013

Hox Gene Regulation And Function During Zebrafish Embryogenesis: A Dissertation, Steven E. Weicksel

GSBS Dissertations and Theses

Hox genes encode a conserved family of homeodomain containing transcription factors essential for metazoan development. The establishment of overlapping Hox expression domains specifies tissue identities along the anterior-posterior axis during early embryogenesis and is regulated by chromatin architecture and retinoic acid (RA). Here we present the role nucleosome positioning plays in hox activation during embryogenesis. Using four stages of early embryo development, we map nucleosome positions at 37 zebrafish hox promoters. We find nucleosome arrangement to be progressive, taking place over several stages independent of RA. This progressive change in nucleosome arrangement on invariant sequence suggests that trans-factors play an ...


Notchless Interacts With Multiple Signaling Pathways During Mouse Peri-Implantation Development, Chiao-Ling Lo Oct 2013

Notchless Interacts With Multiple Signaling Pathways During Mouse Peri-Implantation Development, Chiao-Ling Lo

Open Access Dissertations

During peri-implantation, the embryo transitions from a suspension environment in the fallopian tubes to an adherent system within the uterus. Successful transition requires maternal and fetal signaling cascades that establish maternal-fetal boundaries. Failure is common, as ~ 25% of all human pregnancies terminate during these steps. A large-scale mutation study in mice produced two mutants (l11Jus1 and l11Jus4) that are excellent models of this transition. l11Jus1 and l11Jus4 contain missense mutations in the Notchless homolog 1 (Drosophila) (Nle1) gene. NLE1 is thought to signal via the canonical NOTCH pathway in vertebrates. Although in invertebrates and lower vertebrates, NOTCH signaling directs cell ...


Natural Genetic Variation Affecting Calcium Homeostasis, Rebecca Anna Replogle Oct 2013

Natural Genetic Variation Affecting Calcium Homeostasis, Rebecca Anna Replogle

Open Access Dissertations

Calcium (Ca) is essential for multiple functions within the body including skeletal health. The level of Ca in the serum is tightly regulated. During periods of habitual low Ca intake, the body senses a decrease in serum Ca and increases renal conversion of 25 hydroxyvitamin D (25(OH)D) to 1,25 dihydroxyvitamin D (1,25(OH)2D). 1,25(OH)2D acts through the vitamin D receptor (VDR) to increase intestinal Ca absorption, renal Ca reabsorption and skeletal Ca resorption. Efficient intestinal Ca absorption, especially during periods of low Ca intake, is critical for protecting bone mass. Ca absorption ...


The Genetic Architecture Of Juvenile Migration In Rainbow Trout (Oncorhynchus Mykiss), Benjamin Charles Hecht Oct 2013

The Genetic Architecture Of Juvenile Migration In Rainbow Trout (Oncorhynchus Mykiss), Benjamin Charles Hecht

Open Access Dissertations

Animal migrations play a critical role in the health and balance of ecological systems and in the evolution and diversification of species, and this is perhaps best displayed amongst salmonid fishes (salmon, trout, and char) who exhibit variation in the propensity to migrate both within and among species. Rainbow and steelhead trout (Oncorhynchus mykiss), members of the salmonid family of fishes, capture this variation throughout their native range. Some populations and ecotypes will remain resident in freshwater habitats throughout their life history; while others have the ability to embark on tremendous marine migrations. Those that migrate undergo a suite of ...


Identifying Chromosome Rearrangements In The Allopolyploid Brassica Napus Using Pyrosequencing, Alexandra R. Barbella Oct 2013

Identifying Chromosome Rearrangements In The Allopolyploid Brassica Napus Using Pyrosequencing, Alexandra R. Barbella

Master's Theses and Project Reports

Allopolyploids form through the hybridization of two or more diploid genomes. A challenge to reproduction in allopolyploids is that pairing can occur between homologous chromosomes or homeologous chromosomes (i.e.different subgenomes.). Crossover between homeologous chromosomes can result in chromosome rearrangements that lower fertility and overall fitness. Rearrangements can alter the dosage of either entire chromosomes or just parts of chromosomes. Understanding the frequency and extent of rearrangements will help to explain the evolution and genome stabilization of agriculturally important allopolyploid species. Pyrosequencing is a useful tool in the study dosage changes in allopolyploids because it allows quantification of the ...


Gene Expression Life History Markers In A Hatchery And A Wild Population Of Young-Of-The-Year Oncorhynchus Mykiss, Ian D. F. Garrett Sep 2013

Gene Expression Life History Markers In A Hatchery And A Wild Population Of Young-Of-The-Year Oncorhynchus Mykiss, Ian D. F. Garrett

Dissertations and Theses

Life history within a single species can vary significantly. Many of these differences are associated with varying environmental conditions. Understanding what environmental conditions cue alternate life histories within a single species has been researched extensively. In salmonid fishes, more than almost any other group, varying environmental conditions give rise to individuals within species that take markedly different life history trajectories.

Oncorhynchus mykissis a species of salmonid native to the Pacific Northwest region of North America. This species has two life history forms, anadromous and resident. The anadromous form spends a portion of its life in ocean while the resident life ...


Evolution Of Hybrid Incompatibilities In Gene Regulatory Networks, Alexander Y. Tulchinsky Sep 2013

Evolution Of Hybrid Incompatibilities In Gene Regulatory Networks, Alexander Y. Tulchinsky

Open Access Dissertations

Under the Dobzhansky-Muller model, postzygotic isolation results from incompatibility between interacting genes. Evidence points to regulatory networks as a rich source of incompatibilities that impact hybrid fitness. Pleiotropy is a natural feature of regulatory networks because regulatory elements generally have multiple targets. Both pleiotropy and hybrid incompatibility arise due to genetic interactions; therefore we can expect an intimate association between them. In the following chapters, I investigate the relationship between pleiotropy and hybrid incompatibility in the context of regulatory networks.

In chapter one, I extend a general network-based study of hybrid incompatibility by incorporating a sequence-based thermodynamic model of transcriptional ...


Characterization Of Staphylococcus Aureus Lipase, Vithooshan Vijayakumaran Aug 2013

Characterization Of Staphylococcus Aureus Lipase, Vithooshan Vijayakumaran

Electronic Thesis and Dissertation Repository

USA300, a strain of community-associated methicillin resistant Staphylococcus aureus (CA-MRSA), has become prevalent in the community. Colonization of human skin requires mechanisms that allow this bacterium to overcome the innate immune defenses on the skin, including secretion of antimicrobial lipids. Antimicrobial lipids inhibit S. aureus growth and induce the staphylococcal proteolytic cascade, producing aureolysin (Aur) which processes the lipase glycerol ester hydrolase (Geh). Nearly all S. aureus strains secrete Geh, yet little information exists concerning its function. Using purified Aur and Geh we confirm that aureolysin processes proGeh to Geh. We then confirmed that geh was required for lipase activity ...


Role Of Branched-Chain Amino Acid Transporters In Staphylococcus Aureus Virulence, Sameha Omer Aug 2013

Role Of Branched-Chain Amino Acid Transporters In Staphylococcus Aureus Virulence, Sameha Omer

Electronic Thesis and Dissertation Repository

Branched-chain amino acids (BCAAs) act as effector molecules that signal a global transcriptional regulator, CodY, to regulate virulence factors in nutrient depleted environments. Staphylococcus aureus contains three putative BCAA transporters (BrnQ1, BrnQ2, BrnQ3) whose role in BCAA uptake is unknown. We hypothesize that BrnQ transporters are involved in BCAA uptake and contribute to virulence in S. aureus by modulating CodY activity. Results from radioactive uptake assays indicate that BrnQ1 is the predominant BrnQ transporter of isoleucine, valine and leucine. Meanwhile, BrnQ2 is more specific for isoleucine. Furthermore, only the lack of BrnQ1 hinders growth of S. aureus in chemically-defined media ...


A Novel Role Of Uap56 In Pirna Mediated Transposon Silencing: A Dissertation, Fan Zhang Aug 2013

A Novel Role Of Uap56 In Pirna Mediated Transposon Silencing: A Dissertation, Fan Zhang

GSBS Dissertations and Theses

Transposon silencing is required to maintain genome stability. The non-coding piRNAs effectively suppress of transposon activity during germline development. In the Drosophila female germline, long precursors of piRNAs are transcribed from discrete heterochromatic clusters and then processed into primary piRNAs in the perinuclear nuage. However, the detailed mechanism of piRNA biogenesis, specifically how the nuclear and cytoplasmic processes are connected, is not well understood. The nuclear DEAD box protein UAP56 has been previously implicated in protein-coding gene transcript splicing and export. I have identified a novel function of UAP56 in piRNA biogenesis. In Drosophila egg chambers, UAP56 co-localizes with the ...


Functional Analysis Of Corazonin And Its Receptor In Drosophila Melanogaster, Kai Sha Aug 2013

Functional Analysis Of Corazonin And Its Receptor In Drosophila Melanogaster, Kai Sha

Doctoral Dissertations

Corazonin (Crz) is an amidated undecapeptide originally isolated from the American cockroach. It has been shown to affect diverse physiological functions in a species-specific manner. However, the functionality of Crz in Drosophila melanogaster has not yet been determined. To gain insight into the role of Crz signaling in vivo, Crz and CrzR null alleles were obtained by transposable element mobilization. Flies carrying a deficiency uncovering Crz and pr-set7 loci were generated via P-element excision, and the latter was rescued by wild-type pr-set7 transgene. A mutation of Crz receptor (CrzR) was generated by Minos-element mobilization from GRHRIIMB00583 ...


Chromatin Insulators: Master Regulators Of The Eukaryotic Genome, Todd Andrew Schoborg Aug 2013

Chromatin Insulators: Master Regulators Of The Eukaryotic Genome, Todd Andrew Schoborg

Doctoral Dissertations

Proper organization of the chromatin fiber within the three dimensional space of the eukaryotic nucleus relies on a number of DNA elements and their interacting proteins whose structural and functional consequences exert significant influence on genome behavior. Chromatin insulators are one such example, where it is thought that these elements assist in the formation of higher order chromatin loop structures by mediating long-range contacts between distant sites scattered throughout the genome. Such looping serves a dual role, helping to satisfy both the physical constraints needed to package the linear DNA polymer within the small volume of the nucleus while simultaneously ...


Prkca: Identification Of A Novel Downstream Target Of Wt1, Devin Jones Aug 2013

Prkca: Identification Of A Novel Downstream Target Of Wt1, Devin Jones

UT GSBS Dissertations and Theses (Open Access)

Wilms tumor is a childhood tumor of the kidney arising from the undifferentiated metanephric mesenchyme. Tumorigenesis is attributed to a number of genetic and epigenetic alterations. In 20% of Wilms tumors, Wilms tumor gene 1 (WT1) undergoes inactivating homozygous mutations causing loss of function of the zinc finger transcription factor it encodes. It is hypothesized that mutations in WT1 result in dysregulation of downstream target genes, leading to aberrant kidney development and/or Wilms tumor. These downstream target genes are largely unknown, and identification is important for further understanding Wilms tumor development. Heatmap data of human Wilms tumor protein expression ...


Relationship Of Global Dna Methylation With Cardiovascular Fitness And Body Composition, Michael Steele Jarrett Aug 2013

Relationship Of Global Dna Methylation With Cardiovascular Fitness And Body Composition, Michael Steele Jarrett

UNLV Theses, Dissertations, Professional Papers, and Capstones

Background: Global DNA Methylation (GDM), an epigenomic modification has been linked to the development of Cardiovascular Disease and its risk factors. Purpose: The purpose of this study was to determine if there is a significant correlation between GDM and cardiovascular fitness, as well as, measures of body composition. Methodology: 26 apparently healthy, adults (11 males) completed a physical activity and diet questionnaire, as well as, had a small blood sample (600μL) collected via finger prick for the determination of GDM. Body composition was assessed by means of a Dual-Energy X-ray Absorptiometry (DEXA) scan, while cardiovascular fitness was evaluated by the ...


Single-Nucleotide Polymorphisms Associated With Performance Traits In Beef Cattle Grazing Endophyte-Infected Tall Fescue, Bryan Christopher Bastin Aug 2013

Single-Nucleotide Polymorphisms Associated With Performance Traits In Beef Cattle Grazing Endophyte-Infected Tall Fescue, Bryan Christopher Bastin

Masters Theses

Tall fescue (Lolium arundinaceum Schreb.) is the most prevalent forage in the Midsouth United States due in part to the presence of the endophytic fungus Neotyphodium coenophialum. The fungus, while conferring hardiness to tall fescue, contributes to decreased production efficiency in cow-calf operations. A previous genome-wide association study was performed using the Illumina 50k bovine SNP chip. Twenty-four SNP were found to be associated (P < 0.05) with adjusted birth weight and adjusted 205-day weights of calves from 48 beef cows at Ames Plantation. The first objective was to validate each SNP by testing associations with several additional phenotypes. Custom Taqman genotyping assays (Applied Biosystems, Foster City, CA) were subsequently designed to genotype each SNP in beef cattle located at Tennessee Tech University (n = 654), to validate associations in a large, independent herd. The results yielded 15 associations that were significant (P < 0.05) with 6 phenotypes linked to those affected by fescue toxicosis. The second objective investigated the link between fescue toxicosis and the XK, Kell blood group complex subunit-related, member 4 (XKR4) gene. Serum ...


Array-Based Genomic Diversity Measures Portray Mus Musculus Phylogenetic And Genealogical Relationships, And Detect Genetic Variation Among C57bl/6j Mice And Between Tissues Of The Same Mouse, Susan T. Eitutis Jul 2013

Array-Based Genomic Diversity Measures Portray Mus Musculus Phylogenetic And Genealogical Relationships, And Detect Genetic Variation Among C57bl/6j Mice And Between Tissues Of The Same Mouse, Susan T. Eitutis

Electronic Thesis and Dissertation Repository

Mouse models lack affordable genomic technologies slowing the identification of candidate variants contributing to complex phenotypes. The Mouse Diversity Genotyping Array (MDGA) is a low cost, high-resolution platform permitting genomic diversity assessment. Using a validated list of >500,000 single nucleotide polymorphisms (SNPs), we applied the first comprehensive analysis of SNP differences to detect genetic distance across 362 Mus musculus samples. Genetic distance measured between distantly and closely related mice correlates with known phylogeny and genealogy. Variation detected between C57BL/6J mice is consistent with previous reports of variants within this strain. Putative genetic variation detected between and within tissues ...


Characterization Of A Cdc42 Effector Protein (Cep4l) And A Novel Role For Cdc42 In Xenopus Neurogenesis And Fgf Signaling, Alissa Marie Hulstrand Jul 2013

Characterization Of A Cdc42 Effector Protein (Cep4l) And A Novel Role For Cdc42 In Xenopus Neurogenesis And Fgf Signaling, Alissa Marie Hulstrand

Theses and Dissertations

The vegetal cortex of the Xenopus oocyte is enriched for several mRNAs critical for early embryonic developmental processes, including germ layer specification and dorsoventral axis formation. A recent microarray screen for other vegetally localized RNAs identified several hundred novel cortex-enriched transcripts, which may have undiscovered roles in early development. In order to better elucidate the functions of localized mRNAs in early development, I characterized the spatiotemporal expression patterns and developmental functions of two novel transcripts, TRIO and F-actin binding protein (triobp) and Cdc42 effector protein 4-like (cep4l).

Overexpression and loss-of-function experiments failed to identify a critical role for TrioBP in ...


Elucidating A Role For Cep290 In Bardet-Biedl Syndrome And Other Cilia-Related Disorders, Yan Zhang Jul 2013

Elucidating A Role For Cep290 In Bardet-Biedl Syndrome And Other Cilia-Related Disorders, Yan Zhang

Theses and Dissertations

Ciliopathies are a group of heterogeneous diseases associated with ciliary dysfunction. Diseases in this group display considerable phenotypic variation within individual diseases as well as overlapping phenotypes among clinically distinct diseases. In particular, mutations in CEP290 cause phenotypically diverse ciliopathies ranging from isolated retinal degeneration, nephronophthisis (NPHP), and Bardet-Biedl Syndrome (BBS) to the neonatal lethal Meckel-Gruber syndrome (MKS). However, the underlying mechanisms of the variable expressivity in ciliopathies are not well understood. This thesis focuses on evaluating the molecular and biological processes behind the retinal degeneration and obesity observed in cilia disorders with respect to CEP290 and other ciliopathy genes ...


On Identifying Signatures Of Positive Selection In Human Populations: A Dissertation, Jessica L. Crisci Jun 2013

On Identifying Signatures Of Positive Selection In Human Populations: A Dissertation, Jessica L. Crisci

GSBS Dissertations and Theses

As sequencing technology continues to produce better quality genomes at decreasing costs, there has been a recent surge in the variety of data that we are now able to analyze. This is particularly true with regards to our understanding of the human genome—where the last decade has seen data advances in primate epigenomics, ancient hominid genomics, and a proliferation of human polymorphism data from multiple populations. In order to utilize such data however, it has become critical to develop increasingly sophisticated tools spanning both bioinformatics and statistical inference. In population genetics particularly, new statistical approaches for analyzing population data ...