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Genetics and Genomics Commons

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2009

Selected Works

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Articles 1 - 30 of 31

Full-Text Articles in Genetics and Genomics

Consent To The Use Of Stored Dna For Genetics Research: A Survey Of Attitudes In The Jewish Population, Marc D. Schwartz, Karen H. Rothenberg, Linda Joseph, Judith Benkendorf, Caryn Lerman Dec 2009

Consent To The Use Of Stored Dna For Genetics Research: A Survey Of Attitudes In The Jewish Population, Marc D. Schwartz, Karen H. Rothenberg, Linda Joseph, Judith Benkendorf, Caryn Lerman

Karen H. Rothenberg

No abstract provided.


Judging Genes: Implications Of The Second Generation Of Genetic Tests In The Courtroom, Diane E. Hoffmann, Karen H. Rothenberg Dec 2009

Judging Genes: Implications Of The Second Generation Of Genetic Tests In The Courtroom, Diane E. Hoffmann, Karen H. Rothenberg

Karen H. Rothenberg

The use of DNA tests for identification has revolutionized court proceedings in criminal and paternity cases. Now, requests by litigants to admit or compel a second generation of genetic tests – tests to confirm or predict genetic diseases and conditions – threaten to affect judicial decision-making in many more contexts. Unlike DNA tests for identification, these second generation tests may provide highly personal health and behavioral information about individuals and their relatives and will pose new challenges for trial court judges. This article reports on an original empirical study of how judges analyze these requests and uses the study results …


Social Implications Of Genetic Testing, Karen H. Rothenberg Dec 2009

Social Implications Of Genetic Testing, Karen H. Rothenberg

Karen H. Rothenberg

This paper examines the social implications of predictive genetic testing and its impact on the insurance industry. Although the Human Genome Project has the potential to improve the health of our nation, it also may serve as a means of highlighting genetic differences among individuals and ethnic groups. Thus, if we are to reach the full promise of the Project, society must address the public's fears of genetic discrimination in insurance and employment context. Following an analysis of state and federal legislation on genetic privacy and discrimination, the paper concludes with a challenge to the insurance industry to work with …


Genetic Information And The Workplace: Legislative Approaches And Policy Challenges, Karen H. Rothenberg, Barbara Fuller, Mark Rothstein, Troy Duster, Mary Jo Ellis Kahn, Rita Cunningham, Beth Fine, Kathy Hudson, Mary-Claire King, Patricia Murphy, Gary Swergold, Francis Collins Dec 2009

Genetic Information And The Workplace: Legislative Approaches And Policy Challenges, Karen H. Rothenberg, Barbara Fuller, Mark Rothstein, Troy Duster, Mary Jo Ellis Kahn, Rita Cunningham, Beth Fine, Kathy Hudson, Mary-Claire King, Patricia Murphy, Gary Swergold, Francis Collins

Karen H. Rothenberg

No abstract provided.


The Scarlet Gene: Behavioral Genetics, Criminal Law, And Racial And Ethnic Stigma, Karen H. Rothenberg, Alice Wang Dec 2009

The Scarlet Gene: Behavioral Genetics, Criminal Law, And Racial And Ethnic Stigma, Karen H. Rothenberg, Alice Wang

Karen H. Rothenberg

Imagine that a scientist from the state university asks you and your family to participate in a study on a particular gene variant associated with alcoholism. The project focuses on your ethnic group, the Tracy Islanders, who have a higher incidence of alcoholism, as well as a higher incidence of the gene variant, than the general population. You will not be informed whether you have the gene variant, but your participation in the study might help scientists develop drugs to help individuals control their addiction to alcohol. You have a family history of alcoholism, and you are concerned that your …


When Should Judges Admit Or Compel Genetic Tests?, Diane E. Hoffmann, Karen H. Rothenberg Dec 2009

When Should Judges Admit Or Compel Genetic Tests?, Diane E. Hoffmann, Karen H. Rothenberg

Karen H. Rothenberg

No abstract provided.


Cancer Genetic Susceptibility Testing: Ethical And Policy Implications For Future Research And Clinical Practice, Benjamin S. Wilfond, Karen H. Rothenberg, Elizabeth J. Thomson, Caryn Lerman Dec 2009

Cancer Genetic Susceptibility Testing: Ethical And Policy Implications For Future Research And Clinical Practice, Benjamin S. Wilfond, Karen H. Rothenberg, Elizabeth J. Thomson, Caryn Lerman

Karen H. Rothenberg

No abstract provided.


Toward A Framework Of Mutualism: The Jewish Community In Genetics Research, Karen H. Rothenberg, Amy B. Rutkin Dec 2009

Toward A Framework Of Mutualism: The Jewish Community In Genetics Research, Karen H. Rothenberg, Amy B. Rutkin

Karen H. Rothenberg

No abstract provided.


Muc4/Muc4 Functions And Regulation In Cancer., Goldi Kozloski Dec 2009

Muc4/Muc4 Functions And Regulation In Cancer., Goldi Kozloski

Goldi A Kozloski

The membrane mucin MUC4 (human) is abundantly expressed in many epithelia, where it is proposed to play a protective role, and is overexpressed in some epithelial tumors. Studies on the rat homologue, Muc4, indicate that it acts through anti-adhesive or signaling mechanisms. In particular, Muc4/MUC4 can serve as a ligand/modulator of the receptor tyrosine kinase ErbB2, regulating its phosphorylation and the phosphorylation of its partner ErbB3, with or without the involvement of the ErbB3 ligand neuregulin. Muc4/MUC4 can also modulate cell apoptosis via multiple mechanisms, both ErbB2 dependent and independent. Muc4/MUC4 expression is regulated by multiple mechanisms, ranging from transcriptional …


A Feedback Circuit Involving Let-7-Family Mirnas And Daf-12 Integrates Environmental Signals And Developmental Timing In Caenorhabditis Elegans, Christopher M. Hammell, Xantha Karp, Victor R. Ambros Nov 2009

A Feedback Circuit Involving Let-7-Family Mirnas And Daf-12 Integrates Environmental Signals And Developmental Timing In Caenorhabditis Elegans, Christopher M. Hammell, Xantha Karp, Victor R. Ambros

Victor R. Ambros

Animal development is remarkably robust; cell fates are specified with spatial and temporal precision despite physiological and environmental contingencies. Favorable conditions cause Caenorhabditis elegans to develop rapidly through four larval stages (L1-L4) to the reproductive adult. In unfavorable conditions, L2 larvae can enter the developmentally quiescent, stress-resistant dauer larva stage, enabling them to survive for prolonged periods before completing development. A specific progression of cell division and differentiation events occurs with fidelity during the larval stages, regardless of whether an animal undergoes continuous or dauer-interrupted development. The temporal patterning of developmental events is controlled by the heterochronic genes, whose products …


Archaeal Populations In Biological Soil Crusts From Arid Lands In North America, Tanya Soule, Ian J. Anderson, Shannon L. Johnson, Scott T. Bates, Ferran Garcia-Pichel Sep 2009

Archaeal Populations In Biological Soil Crusts From Arid Lands In North America, Tanya Soule, Ian J. Anderson, Shannon L. Johnson, Scott T. Bates, Ferran Garcia-Pichel

Tanya Soule

Archaea are common and abundant members of biological soil crust communities across large-scale biogeographic provinces of arid North America. Regardless of microbial community development, archaeal populations averaged 2 × 107 16S rRNA gene copies per gram of soil, representing around 5% of the prokaryotic (total calculated bacterial and archaeal) numbers assessed by quantitative-PCR. In contrast, archaeal diversity, determined by denaturing gradient gel electrophoresis fingerprinting and clone libraries of 16S rRNA genes, was very restricted. Only six different phylotypes (all Crenarchaea) were detected, three of which were very dominant. Some phylotypes were widespread, while others were typical of Southern desert areas.


Conformational Changes In Receptor Tyrosine Kinase Signaling: An Erbb Garden Of Delights., Goldi Kozloski Sep 2009

Conformational Changes In Receptor Tyrosine Kinase Signaling: An Erbb Garden Of Delights., Goldi Kozloski

Goldi A Kozloski

The ErbB family of receptor tyrosine kinases plays important roles in cell proliferation, differentiation, and apoptosis. Recent structural studies of these receptors have demonstrated dramatic conformational effects that are critical to their ligand binding and activation, and have shown that these receptors provide levels of control beyond the classic dimerization/activation mechanism. These results indicate that this class of receptors has evolved subtle regulatory mechanisms via genetic and protein structural changes to influence their effects on cell behaviors.



The Unblazed Trail: Bioinformatics And The Protection Of Genetic Knowledge, Lawrence M. Sung Sep 2009

The Unblazed Trail: Bioinformatics And The Protection Of Genetic Knowledge, Lawrence M. Sung

Lawrence M. Sung

No abstract provided.


Multiple Loci Within The Major Histocompatibility Complex Confer Risk Of Psoriasis, Bing-Jian Feng, Liang-Dan Sun, Razieh Soltani-Arabshahi, Anne M. Bowcock, Rajan P. Nair, Philip Stuart, James T. Elder, Steven J. Schrodi, Ann B. Begovich, Goncalo R. Abecasis, Xue-Jun Zhang, Kristina P. Callis Duffin, Gerald G. Krueger, David E. Goldgar Jul 2009

Multiple Loci Within The Major Histocompatibility Complex Confer Risk Of Psoriasis, Bing-Jian Feng, Liang-Dan Sun, Razieh Soltani-Arabshahi, Anne M. Bowcock, Rajan P. Nair, Philip Stuart, James T. Elder, Steven J. Schrodi, Ann B. Begovich, Goncalo R. Abecasis, Xue-Jun Zhang, Kristina P. Callis Duffin, Gerald G. Krueger, David E. Goldgar

Steven J Schrodi

Psoriasis is a common inflammatory skin disease characterized by thickened scaly red plaques. Previously we have performed a genome-wide association study (GWAS) on psoriasis with 1,359 cases and 1,400 controls, which were genotyped for 447,249 SNPs. The most significant finding was for SNP rs12191877, which is in tight linkage disequilibrium with HLA-Cw*0602, the consensus risk allele for psoriasis. However, it is not known whether there are other psoriasis loci within the MHC in addition to HLA-C. In the present study, we searched for additional susceptibility loci within the human leukocyte antigen (HLA) region through in-depth analyses of the GWAS data; …


A Comparative Genomics Approach To Understanding The Biosynthesis Of The Sunscreen Scytonemin In Cyanobacteria, Tanya Soule, Kendra Palmer, Qunjie Gao, Ruth M. Potrafka, Valerie Stout, Ferran Garcia-Pichel Jul 2009

A Comparative Genomics Approach To Understanding The Biosynthesis Of The Sunscreen Scytonemin In Cyanobacteria, Tanya Soule, Kendra Palmer, Qunjie Gao, Ruth M. Potrafka, Valerie Stout, Ferran Garcia-Pichel

Tanya Soule

Background The extracellular sunscreen scytonemin is the most common and widespread indole-alkaloid among cyanobacteria. Previous research using the cyanobacterium Nostoc punctiforme ATCC 29133 revealed a unique 18-gene cluster (NpR1276 to NpR1259 in the N. punctiforme genome) involved in the biosynthesis of scytonemin. We provide further genomic characterization of these genes in N. punctiforme and extend it to homologous regions in other cyanobacteria.

Results Six putative genes in the scytonemin gene cluster (NpR1276 to NpR1271 in the N. punctiforme genome), with no previously known protein function and annotated in this study as scyA to scyF, are likely involved in the assembly …


Identification Of Synechococcus Sp. Iu 625 Phycocyanin Gene And Bioinformatic Analyses Of Cyanobacterial Phycocyanin., Tin-Chun Chu, Aline Oliveira, Arti Rana, Lee Lee Jun 2009

Identification Of Synechococcus Sp. Iu 625 Phycocyanin Gene And Bioinformatic Analyses Of Cyanobacterial Phycocyanin., Tin-Chun Chu, Aline Oliveira, Arti Rana, Lee Lee

Tin-Chun Chu, Ph.D.

No abstract provided.


Gene Expression Patterns Associated With The Biosynthesis Of The Sunscreen Scytonemin In Nostoc Punctiforme Atcc 29133 In Response To Uva Radiation, Tanya Soule, Ferran Garcia-Pichel, Valerie Stout Jun 2009

Gene Expression Patterns Associated With The Biosynthesis Of The Sunscreen Scytonemin In Nostoc Punctiforme Atcc 29133 In Response To Uva Radiation, Tanya Soule, Ferran Garcia-Pichel, Valerie Stout

Tanya Soule

Under exposure to UV radiation, some cyanobacteria synthesize sunscreen compounds. Scytonemin is a heterocyclic indole-alkaloid sunscreen, the synthesis of which is induced upon exposure to UVA (long-wavelength UV) radiation. We previously identified and characterized an 18-gene cluster associated with scytonemin biosynthesis in the cyanobacterium Nostoc punctiforme ATCC 29133; we now report on the expression response of these genes to a step-up shift in UVA exposure. Using quantitative PCR on cDNAs from the N. punctiforme transcriptome and primers targeting each of the 18 genes in the cluster, we followed their differential expression in parallel subcultures incubated with and without UVA. All …


Road-Killed Bats, Highway Design, And The Commuting Ecology Of Bats, Amy L. Russell, Calvin M. Butchkoski, Leslie Saidak, Gary F. Mccracken Jun 2009

Road-Killed Bats, Highway Design, And The Commuting Ecology Of Bats, Amy L. Russell, Calvin M. Butchkoski, Leslie Saidak, Gary F. Mccracken

Amy L. Russell

During a Myotis sodalis telemetry project in Pennsylvania, USA, in 2000, road-killed M. lucifugus were recorded and a highway survey was initiated. The purpose of this study was to assess the level of mortality from road kills on this colony, verify which species were being killed in traffic and examine the influence of canopy height and structure on flight behavior. On 10 evenings between 15 May and 26 July 2001, bats were counted as they emerged from day roosts and crossed a heavily trafficked highway en route to foraging areas. A total of 26 442 bats were observed cross- ing …


Identification Of Yeast Transcriptional Regulation Networks Using Multivariate Random Forests, Yuanyuan Xiao, Mark Segal Dec 2008

Identification Of Yeast Transcriptional Regulation Networks Using Multivariate Random Forests, Yuanyuan Xiao, Mark Segal

Mark R Segal

The recent availability of whole-genome scale data sets that investigate complementary and diverse aspects of transcriptional regulation has spawned an increased need for new and effective computational approaches to analyze and integrate these large scale assays. Here, we propose a novel algorithm, based on random forest methodology, to relate gene expression (as derived from expression microarrays) to sequence features residing in gene promoters (as derived from DNA motif data) and transcription factor binding to gene promoters (as derived from tiling microarrays). We extend the random forest approach to model a multivariate response as represented, for example, by time-course gene expression …


A New Method For Collecting Clean Stable Fly (Diptera: Muscidae) Pupae Of Known Age., Dennis Berkebile, David Taylor, Anthony Weinhold Dec 2008

A New Method For Collecting Clean Stable Fly (Diptera: Muscidae) Pupae Of Known Age., Dennis Berkebile, David Taylor, Anthony Weinhold

David B. Taylor

Stable flies, Stomoxys calcitrans L., are important pests of confined and pasture cattle. They have been reared in the laboratory to study their biology and to test new methods of control. Research on rearing modifications has concentrated on developing larval diets from materials locally abundant. Under current protocols, pupae form in the medium. Aggregations of pupae were located and removed, often with a considerable amount of extraneous material. Various methods have been developed to separate the pupae from waste material. We describe a method by which wandering larvae are enticed to leave the medium prior to pupariation. The larvae were …


Inheritance Of Shoulder Spotting In The Tetra, Hyphessobrycon Bentosi Characidae, Jack Frankel Dec 2008

Inheritance Of Shoulder Spotting In The Tetra, Hyphessobrycon Bentosi Characidae, Jack Frankel

Jack Frankel

The tetra (Hyphessobrycon bentosi) exhibits two phenotypes associated with shoulder spotting. Fish possess ei-ther a prominent black vertical spot located directly behind the operculum (H. b. bentosi,  bentosi  white  tip  tetra) or  lack  this spot (H. b. rosaceus, rosy tetra). Segregation patterns observed from the progenies of ten different crosses suggest that the  inheritance  of  these  phenotypes  is  controlled  by  two  autosomal  loci  acting  in  a complementary  fashion,  with  domi-nance at both loci required for the expression of the spotted phenotype. 


Multiple Colonisations Of The Western Indian Ocean By Pteropus Fruit Bats (Megachiroptera: Pteropodidae): The Furthest Islands Were Colonised First, John O'Brien, Carol Mariani, Link Olson, Amy L. Russell, Ludovic Say, Anne D. Yoder, Tom J. Hayden Dec 2008

Multiple Colonisations Of The Western Indian Ocean By Pteropus Fruit Bats (Megachiroptera: Pteropodidae): The Furthest Islands Were Colonised First, John O'Brien, Carol Mariani, Link Olson, Amy L. Russell, Ludovic Say, Anne D. Yoder, Tom J. Hayden

Amy L. Russell

We investigate the genetic relationships between purported island species of Pteropus fruit bat (Megachi- roptera) from the western Indian Ocean islands using mitochondrial DNA sequencing in order to infer the pattern of colonisation of this biogeographic region. Most significantly, our genetic data questions the current taxonomic assignment based on morphology of many of the island species and subspecies, sug- gesting instead that many of the western Indian Ocean islands harbour ‘races’ of P. giganteus from main- land India. Our results strongly argue against a single colonisation event from mainland Asia. Evidence is presented for three colonisation events; the first to …


Polymorphisms Of Delta-Aminolevulinic Acid Dehydratase (Alad) And Peptide Transporter 2 (Pept2) Genes In Children With Low-Level Lead Exposure, Christina Sobin, Marisela Gutierrez, Heather Alterio Dec 2008

Polymorphisms Of Delta-Aminolevulinic Acid Dehydratase (Alad) And Peptide Transporter 2 (Pept2) Genes In Children With Low-Level Lead Exposure, Christina Sobin, Marisela Gutierrez, Heather Alterio

Christina Sobin, Ph.D.

Low-level lead exposure during early childhood has long been associated with altered neurocognitive development and diminished cognitive functions. Over nine thousand U.S. industrial facilities annually emit significant amounts of lead, creating exposure risk particularly for minority children. The mechanisms by which low-level lead exerts neurotoxic effects are poorly understood. Once absorbed, the only intervention is source removal, thus primary prevention is key. Genetic biomarkers could provide an efficient means of identifying children at greatest risk. Common functional variants of genes that alter lead’s neurotoxic potential have been identified and include delta-aminolevulinic acid dehydratase (ALAD2) and peptide transporter 2 (PEPT2*2). These …


The Evolution Of Flight In Insects: Insights From Mayflies And Dna, T. Heath Ogden Dec 2008

The Evolution Of Flight In Insects: Insights From Mayflies And Dna, T. Heath Ogden

T. Heath Ogden

No abstract provided.


Genome-Wide Scan Reveals Association Of Psoriasis With Il-23 And Nf-B Pathways, Rajan P. Nair, Kristina C. Duffin, Cynthia Helms, Jun Ding, Philip E. Stuart, David Goldgar, Johann E. Gudjonsson, Yun Li, Trilokraj Tejasvi, Bing-Jiag Feng, Andreas Ruether, Stefan Schreiber, Michael Weichenthal, Dafna Gladman, Proton Rahman, Steven J. Schrodi, Sampath Prahalad, Stephen L. Guthery, Judith Fischer, Wilson Liao, Pui-Yan Kwok, Alan Menter, G Mark Lathrop, Carol A. Wise, Ann B. Begovich, John J. Voorhees, James T. Elder, Gerald G. Krueger, Anne M. Bowcock, Goncalo R. Abecasis Dec 2008

Genome-Wide Scan Reveals Association Of Psoriasis With Il-23 And Nf-B Pathways, Rajan P. Nair, Kristina C. Duffin, Cynthia Helms, Jun Ding, Philip E. Stuart, David Goldgar, Johann E. Gudjonsson, Yun Li, Trilokraj Tejasvi, Bing-Jiag Feng, Andreas Ruether, Stefan Schreiber, Michael Weichenthal, Dafna Gladman, Proton Rahman, Steven J. Schrodi, Sampath Prahalad, Stephen L. Guthery, Judith Fischer, Wilson Liao, Pui-Yan Kwok, Alan Menter, G Mark Lathrop, Carol A. Wise, Ann B. Begovich, John J. Voorhees, James T. Elder, Gerald G. Krueger, Anne M. Bowcock, Goncalo R. Abecasis

Steven J Schrodi

Psoriasis is a common immune-mediated disorder that affects the skin, nails and joints. To identify psoriasis susceptibility loci, we genotyped 438,670 SNPs in 1,409 psoriasis cases and 1,436 controls of European ancestry. We followed up 21 promising SNPs in 5,048 psoriasis cases and 5,041 controls. Our results provide strong support for the association of at least seven genetic loci and psoriasis (each with combined P < 5 10-8). Loci with confirmed association include HLA-C, three genes involved in IL-23 signaling (IL23A, IL23R, IL12B), two genes that act downstream of TNF- and regulate NF-B signaling (TNIP1, TNFAIP3) and two genes involved in the modulation of Th2 immune responses (IL4, IL13). Although the proteins encoded in these loci are known to interact biologically, we found no evidence for epistasis between associated SNPs. Our results expand the catalog of genetic loci implicated in psoriasis susceptibility and suggest priority targets for study in other auto-immune disorders.


A Fine Mapping Theorem To Refine Results From Association Genetics Studies, Steven J. Schrodi Dec 2008

A Fine Mapping Theorem To Refine Results From Association Genetics Studies, Steven J. Schrodi

Steven J Schrodi

No abstract provided.


Bayesian Statistics, Joseph F. Lucke Dec 2008

Bayesian Statistics, Joseph F. Lucke

Joseph Lucke

No abstract provided.


Who Owns Your Body? A Study In Literature And Law, Lori B. Andrews Dec 2008

Who Owns Your Body? A Study In Literature And Law, Lori B. Andrews

Lori B. Andrews

No abstract provided.


Characterization Of Unknown Genetic Modifications Using High Throughput Sequencing And Computational Subtraction, Torstein Tengs Dec 2008

Characterization Of Unknown Genetic Modifications Using High Throughput Sequencing And Computational Subtraction, Torstein Tengs

Dr. Torstein Tengs

Background

When generating a genetically modified organism (GMO), the primary goal is to give a target organism one or several novel traits by using biotechnology techniques. A GMO will differ from its parental strain in that its pool of transcripts will be altered. Currently, there are no methods that are reliably able to determine if an organism has been genetically altered if the nature of the modification is unknown.

Results

We show that the concept of computational subtraction can be used to identify transgenic cDNA sequences from genetically modified plants. Our datasets include 454-type sequences from a transgenic line of …


Towards A New Paradigm In Mayfly Phylogeny (Ephemeroptera): Combined Analysis Of Morphological And Molecular Data, T. Heath Ogden Dec 2008

Towards A New Paradigm In Mayfly Phylogeny (Ephemeroptera): Combined Analysis Of Morphological And Molecular Data, T. Heath Ogden

T. Heath Ogden

This study represents the first formal morphological and combined (morphological and molecular) phylogenetic analyses of the order Ephemeroptera. Taxonomic sampling comprised 112 species in 107 genera, including 42 recognized families (all major lineages of Ephemeroptera). Morphological data consisted of 101 morphological characters. Molecular data were acquired from DNA sequences of the 12S, 16S, 18S, 28S and H3 genes. The Asian genus Siphluriscus (Siphluriscidae) was supported as sister to all other mayflies. The lineages Carapacea, Furcatergalia, Fossoriae, Pannota, Caenoidea and Ephemerelloidea were supported as monophyletic, as were many of the families. However, some recognized families (for example, Ameletopsidae and Coloburiscidae) and …