Genetics and Genomics Commons^™

Functional Characterization Of Ectodysplasin-1 And Identification Of Novel Candidate Genes For Ectodermal Dysplasias And Associated Clinical Features, Bradley Griggs

All Dissertations

Ectodermal dysplasias (ED) are a group of developmental disorders in which ectodermally derived structures are abnormally formed or absent entirely. The molecular signaling pathway controlling the differentiation of ectodermal appendages has been well documented in recent years. However, questions remain concerning the key signaling molecule of this pathway, ectodysplasin-1 (EDA), the identity of the EDA signaling pathway's target genes, and the presence of additional phenotypes observed in some patients.
Despite the intensive study of EDA in recent years, the functional significance of the N-terminal intracellular domain of ectodysplasin-1 (N-EDA) has remained elusive. The yeast two-hybrid system was employed to further …

Australian Temperate Strawberry Breeding Program (Albany Western Australia) Screening Of Advance And New Selections For Albany Western Australia - 2006/2007, Shane Trainer, Dennis Phillips, Hal

Horticulture research reports

Fourteen intermediate day neutral selections from the Australian temperate breeding program were compared in a June trial planting on a commercial property in the Albany region. Intermediate selections were derived from crosses made between 1999 and 2002. Three advanced 'short day' selections were compared for yield, both as trial plots (10 plants) and as large plot demonstrations of up to 500 plants. Accompanying these selections, six named day neutral, three short day and four Queensland cultivars of different runner origins were compared. Camarosa, Selva and Diamante were included as commercial controls.

Day neutral selections 02-083-24 and 02-83-311 were potentially superior …

Complete Chloroplast Genome Sequences Of Hordeum Vulgare, Sorghum Bicolor And Agrostis Stolonifera, And Comparative Analyses With Other Grass Genomes, Susanna Ashton, Seung-Bum Lee, Siri Fjellheim, Chittibabu Guda, Robert K. Jansen, Hong Luo, Jeffrey Tomkins, Odd Arne Rognli, Henry Daniell, Jihong Liu Clarke

Publications

Comparisons of complete chloroplast genome sequences of Hordeum vulgare, Sorghum bicolor and Agrostis stolonifera to six published grass chloroplast genomes reveal that gene content and order are similar but two microstructural changes have occurred. First, the expansion of the IR at the SSC/IRa boundary that duplicates a portion of the 5′ end of ndhH is restricted to the three genera of the subfamily Pooideae (Agrostis, Hordeum and Triticum). Second, a 6 bp deletion in ndhK is shared by Agrostis, Hordeum, Oryza and Triticum, and this event supports the sister relationship between the subfamilies …

Validation Of A Short Tandem Repeat Multiplex Typing System For Genetic Individualization Of Domestic Cat Samples, Nikia Coomber, Victor A. David, Stephen J. O'Brien, Marilyn Menotti-Raymond

Biology Faculty Articles

Aim To conduct developmental validation studies on a polymerase chain reaction (PCR) based short tandem repeat (STR) multiplex typing system, developed for the purpose of genetic individualization and parentage testing in domestic cat samples.

Methods To evaluate reproducibility of the typing system, the multiplex was amplified using DNA extracted from hair, blood, and buccal samples obtained from the same individual (n = 13). Additional studies were performed to evaluate the system’s species’ specificity, using 26 North American mammalian species and two prokaryotes Sacchromyces and Escherichia coli, sensitivity, and ability to identify DNA mixtures. Patterns of Mendelian inheritance and mutation …

Sheep Updates 2007 - Part 3, Andrew Ritchie, Edward Riggall, James Hall, Gus Rose, Johan Greeff, John Young, M. Alchin, M. Young, T. Johnson, John Lucy, Martin Staines, Tim Wiley, Rob Grima, Sandra Prosser, Matt Ryan, Geoff Moore, Tony Albertsen, Phil Barrett-Lennard, George Woolston, John Titerington, Sarah Knight, Brianna Peake

Sheep Updates

This session covers seven papers from different authors:

PROFITABILITY

1. Benchmarking demonstrates both the potential and realised productivity gains in the sheep and wool industry, Andrew Ritchie, Edward Riggall and James Hall, ICON Agriculture, Darkan

2. Improving sheep genetics will increase farm profitability, Gus Rose, Johan Greeff Department of Agriculture and Food Western Australia, John Young Farming Systems Analysis Service, WA

3. Meat, Merinos and making money in WA Pastoral Zone, M. Alchin, M. Young and T. Johnson, Department of Agriculture and Food Western Australia,

GRAZING

4. Nitrogen - farmers' friend or foe? John Lucy and Martin Staines, Department …

Sheep Updates 2007 - Part 5, Bindi Murray, John Karlsson, Johan Greeff, Carolina Viñoles Gil, B. L. Paganoni, K. M. M. Glover, J. T. B. Milton, G. B. Martin, Hugh Dove, Bill Mckiernan, John Wilkins, Paul Greenwood, Linda Cafe

Sheep Updates

This session covers six papers from different authors:

GENETIC IMPROVEMENT

1. Breech Strike Resistance: Selecting for resistance traits reduces breech strike, Bindi Murray, John Karlsson, Johan Greeff, Department of Agriculture and Food, Western Australia

2. Breeding Merino Sheep for Worm Resistance increases profit in a Mediterranean Environment, John Karlsson and Johan Greeff Department of Agriculture and Food, Western Australia

FEEDING

3. Embryo lasses were not increased when Merino ewes that had lost weight were supplemented with lupins, C. Viñoles Gil, B.L. Paganoni, K.M.M. Glover, J.T.B. Milton & G.B. Martin, School of Animal Biology, Faculty of Natural and Agricultural Sciences, …

Sheep Updates 2007 - Part 2, Ian Mcfarland, Catherine Stockman, Anne Barnes, David Pethick, Jenny Davis, Brett Thompson, Ron Leng, Sally Pieruzzini, Elizabeth Jackson, Mohammed Quaddus, Nazrul Islam, John Stanton, Melanie Dowling

Sheep Updates

This session covers six papers from different authors:

CONCURRENT SESSIONS

FINISHING LAMB AND BEEF

1. Precision Feedlot Lamb, Ian McFarland, Department of Agriculture and Food, Western Australia

2. Feeding sheep under high heat load did not decrease intake of feedlot rations, Catherine Stockman, Department of Agriculture and Food, Western Australia & Murdoch University, Anne Barnes, Murdoch University David Pethick, Murdoch University

3. Taking the stress out of fifishing lambs and cattle - EasyFeed solutions, Jenny Davis, Brett Thomson, Milne AgriGroup, Welshpool WA, Ron Leng, Emeritus Professor, University of New England, Armidale, NSW

WOOL

4. DAFWA …

A Novel Ensemble Learning Method For De Novo Computational Identification Of Dna Binding Sites, Arijit Chakravarty, Jonathan M. Carlson, Radhika S. Khetani, Robert H H. Gross

Dartmouth Scholarship

Despite the diversity of motif representations and search algorithms, the de novo computational identification of transcription factor binding sites remains constrained by the limited accuracy of existing algorithms and the need for user-specified input parameters that describe the motif being sought.ResultsWe present a novel ensemble learning method, SCOPE, that is based on the assumption that transcription factor binding sites belong to one of three broad classes of motifs: non-degenerate, degenerate and gapped motifs. SCOPE employs a unified scoring metric to combine the results from three motif finding algorithms each aimed at the discovery of one of these classes of motifs. …

Assessment Of A Cgh-Based Genetic Instability, David A. Engler, Yiping Shen, J F. Gusella, Rebecca A. Betensky

Harvard University Biostatistics Working Paper Series

No abstract provided.

Survival Analysis With Large Dimensional Covariates: An Application In Microarray Studies, David A. Engler, Yi Li

Harvard University Biostatistics Working Paper Series

Use of microarray technology often leads to high-dimensional and low- sample size data settings. Over the past several years, a variety of novel approaches have been proposed for variable selection in this context. However, only a small number of these have been adapted for time-to-event data where censoring is present. Among standard variable selection methods shown both to have good predictive accuracy and to be computationally efficient is the elastic net penalization approach. In this paper, adaptation of the elastic net approach is presented for variable selection both under the Cox proportional hazards model and under an accelerated failure time …

Sampling Daphnia's Expressed Genes: Preservation, Expansion And Invention Of Crustacean Genes With Reference To Insect Genomes, John K. Colbourne, Brian D. Eads, Joseph Shaw, Elizabeth Bohuski, Darren J. Bauer, Justen Andrews

Hubbard Center for Genome Studies (HCGS)

Background

Functional and comparative studies of insect genomes have shed light on the complement of genes, which in part, account for shared morphologies, developmental programs and life-histories. Contrasting the gene inventories of insects to those of the nematodes provides insight into the genomic changes responsible for their diversification. However, nematodes have weak relationships to insects, as each belongs to separate animal phyla. A better outgroup to distinguish lineage specific novelties would include other members of Arthropoda. For example, crustaceans are close allies to the insects (together forming Pancrustacea) and their fascinating aquatic lifestyle provides an important comparison for understanding the …

Sampling Daphnia's Expressed Genes: Preservation, Expansion And Invention Of Crustacean Genes With Reference To Insect Genomes, John K. Colbourne, Brian D. Eads, Joseph Shaw, Elizabeth Bohuski, Darren Bauer, Justen Andrews

Dartmouth Scholarship

Functional and comparative studies of insect genomes have shed light on the complement of genes, which in part, account for shared morphologies, developmental programs and life-histories. Contrasting the gene inventories of insects to those of the nematodes provides insight into the genomic changes responsible for their diversification. However, nematodes have weak relationships to insects, as each belongs to separate animal phyla. A better outgroup to distinguish lineage specific novelties would include other members of Arthropoda. For example, crustaceans are close allies to the insects (together forming Pancrustacea) and their fascinating aquatic lifestyle provides an important comparison for understanding the genetic …

Regulation Of Meiotic Cohesion And Chromosome Core Morphogenesis During Pachytene In Drosophila Oocytes, Radhika S. Khetani, Sharon E. Bickel

Dartmouth Scholarship

During meiosis, cohesion between sister chromatids is required for normal levels of homologous recombination, maintenance of chiasmata and accurate chromosome segregation during both divisions. In Drosophila, null mutations in the ord gene abolish meiotic cohesion, although how ORD protein promotes cohesion has remained elusive. We show that SMC subunits of the cohesin complex colocalize with ORD at centromeres of ovarian germ-line cells. In addition, cohesin SMCs and ORD are visible along the length of meiotic chromosomes during pachytene and remain associated with chromosome cores following DNase I digestion. In flies lacking ORD activity, cohesin SMCs fail to accumulate at oocyte …

Comparative Functional Analysis Of Aquaporins/Glyceroporins In Mammals And Anurans, Carissa M. Krane, David L. Goldstein

Biology Faculty Publications

Maintenance of fluid homeostasis is critical to establishing and maintaining normal physiology. The landmark discovery of membrane water channels (aquaporins; AQPs) ushered in a new area in osmoregulatory biology that has drawn from and contributed to diverse branches of biology, from molecular biology and genomics to systems biology and evolution, and from microbial and plant biology to animal and translational physiology. As a result, the study of AQPs provides a unique and integrated backdrop for exploring the relationships between genes and genome systems, the regulation of gene expression, and the physiologic consequences of genetic variation. The wide species distribution of …

Primate Tnf Promoters Reveal Markers Of Phylogeny And Evolution Of Innate Immunity, Andres Baena, Alan R. Mootnick, James V. Falvo, Alla V. Tsytsykova, Filipa Ligeiro, Ousmane M. Diop, Claudia Brieva, Pascal Gagneux, Stephen J. O'Brien, Oliver A. Ryder, Anne E. Goldfeld

Biology Faculty Articles

Background. Tumor necrosis factor (TNF) is a critical cytokine in the immune response whose transcriptional activation is controlled by a proximal promoter region that is highly conserved in mammals and, in particular, primates. Specific single nucleotide polymorphisms (SNPs) upstream of the proximal human TNF promoter have been identified, which are markers of human ancestry.

Methodology/Principal findings. Using a comparative genomics approach we show that certain fixed genetic differences in the TNF promoter serve as markers of primate speciation. We also demonstrate that distinct alleles of most human TNF promoter SNPs are identical to fixed nucleotides in primate TNF promoters. Furthermore, …

Regulatory Polymorphisms In The Cyclophilin A Gene, Ppia, Accelerate Progression To Aids, Ping An, Li Hua Wang, Holli Hutcheson-Dilks, George Nelson, Sharyne Donfield, James J. Goedert, Charles Rinaldo, Susan Buchbinder, Gregory D. Kirk, Stephen J. O'Brien, Cheryl Winkler

Biology Faculty Articles

Human cyclophilin A, or CypA, encoded by the gene peptidyl prolyl isomerase A (PPIA), is incorporated into the HIV type 1 (HIV-1) virion and promotes HIV-1 infectivity by facilitating virus uncoating. We examined the effect of single nucleotide polymorphisms (SNPs) and haplotypes within the PPIA gene on HIV-1 infection and disease progression in five HIV-1 longitudinal history cohorts. Kaplan-Meier survival statistics and Cox proportional hazards model were used to assess time to AIDS outcomes. Among eight SNPs tested, two promoter SNPs (SNP3 and SNP4) in perfect linkage disequilibrium were associated with more rapid CD4⁺ T-cell loss (relative hazard = …

Comparative Chloroplast Genomics: Analyses Including New Sequences From The Angiosperms Nuphar Advena And Ranunculus Macranthus, Linda A. Raubeson, Rhiannon Peery, Timothy W. Chumley, Chris Dziubek, H. Matthew Fourcade, Jeffrey L. Boore, Robert K. Jansen

All Faculty Scholarship for the College of the Sciences

Background

The number of completely sequenced plastid genomes available is growing rapidly. This array of sequences presents new opportunities to perform comparative analyses. In comparative studies, it is often useful to compare across wide phylogenetic spans and, within angiosperms, to include representatives from basally diverging lineages such as the genomes reported here: Nuphar advena (from a basal-most lineage) and Ranunculus macranthus (a basal eudicot). We report these two new plastid genome sequences and make comparisons (within angiosperms, seed plants, or all photosynthetic lineages) to evaluate features such as the status of ycf15 and ycf68 as protein coding genes, the distribution …

Phylogenetics And Phylogeography Of The Artibeus Jamaicensis Complex Based On Cytochrome-B Dna Sequences, Peter A. Larsen, Steven R. Hoofer, Matthew C. Bozeman, Scott C. Pedersen, Hugh H. Genoways, Carleton J. Phillips, Dorothy E. Pumo, Robert J. Baker

University of Nebraska State Museum: Mammalogy Papers

The phylogenetics and phylogeography of the Jamaican fruit-eating bat (Artibeus jamaicensis) were examined based on analysis of DNA sequence variation in the mitochondrial cytochrome-b gene for 176 individuals representing all 13 subspecies of A. jamaicensis (sensu Simmons 2005). Results document that A. jamaicensis (sensu Simmons 2005) comprises 3 monophyletic assemblages that are separated phylogenetically by the presence of A. obscurus, A. lituratus, and . amplus. According to the mitochondrial DNA sequence variation, A. jamaicensis, A. schwartzi, and A. planirostris are appropriate species-level names for these lineages. Haplotypes identifiable as A. jamaicensis were absent east …

The ΑD-Globin Gene Originated Via Duplication Of An Embryonic Α-Like Globin Gene In The Ancestor Of Tetrapod Vertebrates, Federico G. Hoffmann, Jay F. Storz

Jay F. Storz Publications

Gene duplication is thought to play an important role in the co-option of existing protein functions to new physiological pathways. The globin superfamily of genes provides an excellent example of the kind of physiological versatility that can be attained through the functional and regulatory divergence of duplicated genes that encode different subunit polypeptides of the tetrameric hemoglobin protein. In contrast to prevailing views about the evolutionary history of the α-globin gene family, here we present phylogenetic evidence that the α^A- and α^D-globin genes are not the product of a single, tandem duplication of an ancestral globin …

Bilateral Gynandromorphy In A White-Ruffed Manakin (Corapipo Altera), Jeffrey M. Dacosta, Garth M. Spellman, John Klicka

Ornithology Program (HRC)

We report bilateral gynandromorphy in a White-ruffed Manakin (Corapipo altera) collected near Santa Fé, Panamá in 2004. The specimen had an oviduct and ovary on the left side and a single testis on the right. The plumage was phenotypically female on the right side and male on the left. The weight and genetic affinity of the specimen were characteristically female. Both Z and W chromosomes were detected in genetic samples from multiple tissue types and toe pads from both feet. This report is a novel record of gynandromorphy in a suboscine passerine.

A Genome-Wide Association Study Of Type 2 Diabetes In Finns Detects Multiple Susceptibility Variants, Laura J. Scott, Karen L. Mohlke, Lori L. Bonnycastle, Cristen J. Willer, Randall J. Pruim

University Faculty Publications and Creative Works

Identifying the genetic variants that increase the risk of type 2 diabetes (T2D) in humans has been a formidable challenge. Adopting a genome-wide association strategy, we genotyped 1161 Finnish T2D cases and 1174 Finnish normal glucose-tolerant (NGT) controls with >315,000 single-nucleotide polymorphisms (SNPs) and imputed genotypes for an additional >2 million autosomal SNPs. We carried out association analysis with these SNPs to identify genetic variants that predispose to T2D, compared our T2D association results with the results of two similar studies, and genotyped 80 SNPs in an additional 1215 Finnish T2D cases and 1258 Finnish NGT controls. We identify T2D-associated …

Coordinated Regulation Of Myc Trans-Activation Targets By Polycomb And The Trithorax Group Protein Ash1, Julie M. Goodliffe, Michael D. Cole, Eric Wieschaus

Dartmouth Scholarship

The Myc oncoprotein is a transcriptional regulator whose function is essential for normal development. Myc is capable of binding to 10% of the mammalian genome, and it is unclear how a developing embryo controls the DNA binding of its abundant Myc proteins in order to avoid Myc's potential for inducing tumorigenesis.To identify chromatin binding proteins with a potential role in controlling Myc activity, we established a genetic assay for dMyc activity in Drosophila. We conducted a genome-wide screen using this assay, and identified the Trithorax Group protein Ash1 as a modifier of dMyc activity. Ash1 is a histone methyltransferase known …

The Integrative Correlation Coefficient: A Measure Of Cross-Study Reproducibility For Gene Expressionea Array Data, Leslie M. Cope, Liz Garrett-Mayer, Edward Gabrielson, Giovanni Parmigiani

Johns Hopkins University, Dept. of Biostatistics Working Papers

Multi-study analysis adds value to microarray experiments. However, because of significant technical differences between microarray platforms, and because of differences in study design, it can be difficult to combine data. We have developed a statistical measure of reproducibility that can be applied to individual genes, measured in two different studies. This statistic, which we call the Integrative Correlation Coefficient or Correlation of Correlations, borrows strength across many genes to estimate the strength of the relationship between expression values in the two studies.

The E705k Mutation In Hpms2 Exerts Recessive, Not Dominant, Effects On Mismatch Repair, Suzanne M. Deschênes, Guy Tomer, Megan Nguyen, Naz Erdeniz, Nicole C. Juba, Natalia Sepúlveda, Jenna E. Pisani, R. Michael Liskay

Biology Faculty Publications

The hPMS2 mutation E705K is associated with Turcot syndrome. To elucidate the pathogenesis of hPMS2-E705K, we modeled this mutation in yeast and characterized its expression and effects on mutation avoidance in mammalian cells. We found that while hPMS2-E705K (pms1-E738K in yeast) did not significantly affect hPMS2 (Pms1p in yeast) stability or interaction with MLH1, it could not complement the mutator phenotype in MMR-deficient mouse or yeast cells. Furthermore, hPMS2-E705K/pms1-E738K inhibited MMR in wild-type (WT) mammalian cell extracts or yeast cells only when present in excess amounts relative to WT PMS2. Our results strongly suggest that hPMS2-E705K is a …

Expression Of Bacillus Subtilis Proba Genes And Reduction Of Feedback Inhibition Of Proline Synthesis Increases Proline Production And Confers Osmotolerance In Transgenic Arabidopsis, Mingqing Chen, Hongbo Wei, Junwei Cao, Ruijie Liu, Youliang Wang, Congyi Zheng

Peer Reviewed Articles

Proline accumulation has been shown to correlate with tolerance to drought and salt stresses in plants. We attempt to introduce the wild-type, mutant, and fusion proBA genes derived from Bacillus subtilis into Arabidopsis thaliana under the control of a strong promoter cauliflower mosaic virus 35S (CaMV35S). The transgenic plants produced higher level of free proline than control and the overproduction of proline resulted in the increased tolerance to osmotic stress in transgenic plants. Besides, the mutation in proBA genes, which were proved to lead γ-glutamyl kinase (γ-GK) reduces sensitivity to the end-product inhibition and the fusion of proB and proA …

A Simple And Improved Pcr-Based Technique For White-Tailed Deer (Odocoileus Virginianus) Sex Identification, Alec R. Lindsay Ph. D., Jerrold L. Belant

Faculty Works

We describe a simple single-reaction technique for identifying the sex of white-tailed deer (Odocoileus virginianus) based on the PCR amplification of a zinc-finger intron using one pair of primers. Although Sry-coamplification confirmed sex identities, use of the Sry marker was unnecessary due to dimorphic alleles on the X and Y chromosomes at the zinc-finger locus. Insertions in intron 7 of the Y-linked allele (417 bp) make it nearly twice as long as the X-linked allele (236 bp) and thus the amplification products are easily discernable by simple agarose gel electrophoresis. The relatively short size of these products makes them useful …

A Checklist Of The Amphibians And Reptiles Of México, Ernest A. Liner

Occasional Papers of the Museum of Natural Science, Louisiana State University

No abstract provided.

Clouded Leopard Phylogeny Revisited: Support For Species Recognition And Population Division Between Borneo And Sumatra, Andreas Wilting, Valerie A. Buckley-Beason, Heike Feldhaar, Jurgen Gadau, Stephen J. O'Brien, K. Eduard Linsenmair

Biology Faculty Articles

Background

The clouded leopard (Neofelis nebulosa) is one of the least known cat species and depletion of their forested habitats puts it under heavy pressure. Recently reclassification of Bornean clouded leopards (N. nebulosa diardi) to species level (N.diardi) was suggested based on molecular and morphological evidence. Since the genetic results were based solely on three Bornean samples we re-evaluated this partition using additional samples of Bornean clouded leopards (N = 7) and we were also able to include specimens from Sumatra (N = 3), which were lacking in previous analysis.

Results

We found strong …

The Effect Of Radiation And Repeated Sub-Culturing On Tgf-Β1 Signaling In Frtl-5 Cells, Cheryl G. Burrell

Loma Linda University Electronic Theses, Dissertations & Projects

From our ongoing in vitro studies using the Fisher Rat Thyroid cell line-5 (FRTL-5) we recorded accelerated growth, reduced follicularization and reduction in thyroxin release that occurred as the cells were repeatedly sub-cultured. We also recorded that these changes occurred earlier and more rapidly following radiation exposure. We determined that TGF-β1 production increased under both conditions. We hypothesized that alteration in the TGF-β1 signaling pathway contributed to the changes observed in the cellular properties of FRTL-5 cells. Our objective was to examine some of the players in the TGF-β1 signaling pathway to determine whether radiation and/or repeated subculturing promoted changes …

Radiation-Induced Increases In Pkc Modulate Integrin Expression And Contribute To Fibrotic Changes, Pinal Rushikesh Pandya

Loma Linda University Electronic Theses, Dissertations & Projects

The sequences of events in fibrosis are similar to those in wound healing; however, the normal termination and resolution stages do not take place. The initial cellular response following ionizing radiation involves accumulation of the ECM (extracellular matrix) including collagen, fibronectin and the interaction of many growth factors (cytokines) with their receptors. There are a number of unanswered questions regarding many aspects of radiation-induced fibrosis, including the initial triggers and physical changes that initiate the process. We have confirmed that elevated pKC and other cellular changes following radiation are similar to those found at sites of inflammation. This information leads …