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Full-Text Articles in Genetics and Genomics

Characterization Of Two Type Iv Collagens Involved In Autosomal Recessive Hereditary Nephropathy, Keri Tabb Dec 2012

Characterization Of Two Type Iv Collagens Involved In Autosomal Recessive Hereditary Nephropathy, Keri Tabb

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The glomerular basement membrane (GBM) of the kidney is highly specialized and required for filtration of waste products from the bloodstream. One of the major structural and functional units of the GBM is a network composed of type IV collagen heterotrimers, or protomers. Early in development of the human and dog, an isoform switch occurs, and the α1α1α2 (IV) network found in the nascent GBM is replaced with α3α4α5 (IV) protomers. Mutations in any of the genes encoding proteins found in the mature GBM network may prevent protomer formation and cause a progressive disorder leading to end stage renal failure …


Family Cancer History And Pedigrees As A Public Health Intervention For Promoting Health And Preventing Prostate Cancer In African American Men, Holisa Wharton Dec 2012

Family Cancer History And Pedigrees As A Public Health Intervention For Promoting Health And Preventing Prostate Cancer In African American Men, Holisa Wharton

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ABSTRACT
Prostate cancer is the most common cancer diagnosed in men and the second leading cause of cancer death among men in the United States. African-American men have substantially higher prostate cancer incidence and mortality than European-American men. It is unclear whether this incidence is due to acquired DNA changes (sporadic cancer) or if germline Mendelian genetics/genomics (inherited cancer) is the source of this health disparity. To explore this cause, the focus of this dissertation paper is family health history and hereditary prostate cancer. A family history tool is the most commonly used predictive instrument for hereditary prostate cancer. The …


Analysis Of Genotype, Phenotype, And Age Progression In Phelan-Mcdermid Syndrome, Sara Sarasua Dec 2012

Analysis Of Genotype, Phenotype, And Age Progression In Phelan-Mcdermid Syndrome, Sara Sarasua

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Phelan-McDermid syndrome is a developmental disability syndrome associated with deletions of the terminal end of one copy of chromosome 22q13. The observed chromosomal aberrations include simple terminal deletions, interstitial deletions, deletions and duplications, and duplications without deletions. All patients have some degree of developmental disability and many also have hypotonia, autism, minor dysmorphic features, and seizures. I performed an epidemiological and cytogenetic investigation to better understand the etiology of Phelan-McDermid syndrome and to provide information to patients and their families, clinicians, and researchers investigating developmental disabilities. Deletions vary widely in size, from 60 kb to more than 9 Mb, but …


Molecular Genetics Of Nodule Number Regulation: Cloning, Characterization And Functional Studies Of The Root Determined Nodulator1 (Rdn1) Gene In Medicago Truncatula, Tessema Kassaw Dec 2012

Molecular Genetics Of Nodule Number Regulation: Cloning, Characterization And Functional Studies Of The Root Determined Nodulator1 (Rdn1) Gene In Medicago Truncatula, Tessema Kassaw

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Nitrogen is critical to life. However, the majority of nitrogen on earth (in the atmosphere) is inert and unavailable to nearly all organisms. Metabolically diverse prokaryotes are the only organisms capable of fixing atmospheric nitrogen; rhizobia set up a symbiosis with legume plants allowing the plants to benefit from this ability. Since nodulation and the subsequent nitrogen fixation processes are energy intensive, the host plant must balance hosting of the rhizobia by limiting the number of nodules it forms through a mechanism called Autoregulation of Nodulation (AON). My study of mutants in the model legume Medicago truncatula defective in AON …


Cytogenetic Biodiversity In The Simulium Johannseni Group (Diptera: Simuliidae), Katherine Gleason Aug 2012

Cytogenetic Biodiversity In The Simulium Johannseni Group (Diptera: Simuliidae), Katherine Gleason

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Cryptic biodiversity, the presence of suborganismal variation in isomorphic populations of organisms, can have implications for management and conservation. Ecological variation in habitat and host species of populations of the black fly Simulium johannseni suggested the potential for cryptic biodiversity. Polytene chromosomes of larvae belonging to the S. johannseni group of black flies were characterized to discover fixed and polymorphic rearrangements. Larvae of S. johannseni from Wisconsin, South Carolina, and Alabama and of the closely related S. parmatum from South Carolina and Florida were analyzed. Simulium johannseni can be divided into two cytoforms corresponding to geographic location. Cytoform A, found …


Mapping Quantitative Trait Loci Associated With Resistance To Bacterial Spot (Xanthomonas Arboricola Pv. Pruni) In Peach, Nannan Yang May 2012

Mapping Quantitative Trait Loci Associated With Resistance To Bacterial Spot (Xanthomonas Arboricola Pv. Pruni) In Peach, Nannan Yang

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Bacterial spot, caused by Xanthomonas arboricola pv. pruni (Xap), is a serious disease that can affect peach fruit quality and production worldwide. This disease causes severe defoliation and blemishing of fruit, particularly in areas with high rainfall, strong winds, high humidity and sandy soil. The molecular basis of its tolerance and susceptibility in peach is yet to be understood. To study the genetics of the peach response to Xap, an F2 segregating population between two peach cultivars, `Clayton', a resistant phenotype, and `O'Henry', which is very susceptible to Xap, was created. Phenotypic data for leaf and fruit response to Xap …


Genetic Engineering Of Turfgrass For Enhanced Performance Under Environmental Stress, Man Zhou May 2012

Genetic Engineering Of Turfgrass For Enhanced Performance Under Environmental Stress, Man Zhou

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Turfgrass species are agriculturally and economically important perennial crops that are susceptible to biotic stress (e.g. fungal pathogens) and abiotic stress (e.g. salinity and drought). Every year, environmental stress significantly influences turfgrass quality and production causing economic loss globally. My research explores the feasibility of using two novel transgenes - Penaeidin4-1 (Pen4-1) from the shrimp, Litopenaeus setiferus, and microRNA319a (miR319a) from the rice, Oryza sativa, to genetically engineer turfgrass for enhanced tolerance to environmental stress.
The antimicrobial peptide - Pen4-1 has been reported to possess in vitro antifungal and antibacterial activities against various economically important pathogens. In this study, two …


Choline Supplementation And Dna Methylation In The Hippocampus And Prefrontal Cortex Of Rats Exposed To Alcohol During Development, Nicha K H Otero, Jennifer D. Thomas, Christopher Saski, Xiaoxia Xia, Sandra Kelly Apr 2012

Choline Supplementation And Dna Methylation In The Hippocampus And Prefrontal Cortex Of Rats Exposed To Alcohol During Development, Nicha K H Otero, Jennifer D. Thomas, Christopher Saski, Xiaoxia Xia, Sandra Kelly

Publications

BACKGROUND:

Some of the most frequent deficits seen in children with fetal alcohol spectrum disorders (FASD) and in animal models of FASD are spatial memory impairments and impaired executive functioning, which are likely related to alcohol-induced alterations of the hippocampus and prefrontal cortex (PFC), respectively. Choline, a nutrient supplement, has been shown in a rat model to ameliorate some of alcohol's teratogenic effects, and this effect may be mediated through choline's effects on DNA methylation.

METHODS:

Alcohol was given by intragastric intubation to rat pups during the neonatal period (postnatal days 2 to 10) (ET group), which is equivalent to …