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Articles 121 - 150 of 239

Full-Text Articles in Genetics and Genomics

Characterization Of The Heart Transcriptome Of The White Shark (Carcharodon Carcharias), Vincent P. Richards, Haruo Suzuki, Michael J. Stanhope, Mahmood S. Shivji Jan 2013

Characterization Of The Heart Transcriptome Of The White Shark (Carcharodon Carcharias), Vincent P. Richards, Haruo Suzuki, Michael J. Stanhope, Mahmood S. Shivji

Marine & Environmental Sciences Faculty Articles

Background: The white shark (Carcharodon carcharias) is a globally distributed, apex predator possessing physical, physiological, and behavioral traits that have garnered it significant public attention. In addition to interest in the genetic basis of its form and function, as a representative of the oldest extant jawed vertebrate lineage, white sharks are also of conservation concern due to their small population size and threat from overfishing. Despite this, surprisingly little is known about the biology of white sharks, and genomic resources are unavailable. To address this deficit, we combined Roche-454 and Illumina sequencing technologies to characterize the first …


Host Genomic Influences On Hiv/Aids, Stephen J. O'Brien, Sher L. Hendrickson Jan 2013

Host Genomic Influences On Hiv/Aids, Stephen J. O'Brien, Sher L. Hendrickson

Biology Faculty Articles

The AIDS era has seen multiple advances in the power of genetics research; scores of host genetic protective factors have been nominated and several have translated to the bedside. We discuss how genomics may inform HIV/AIDS prevention, treatment and eradication.


The Role Of Gene Duplication And Unconstrained Selective Pressures In The Melanopsin Gene Family Evolution And Vertebrate Circadian Rhythm Regulation, Rui Borges, Warren E. Johnson, Stephen J. O'Brien, Vitor Vasconcelos, Agostinho Antunes Dec 2012

The Role Of Gene Duplication And Unconstrained Selective Pressures In The Melanopsin Gene Family Evolution And Vertebrate Circadian Rhythm Regulation, Rui Borges, Warren E. Johnson, Stephen J. O'Brien, Vitor Vasconcelos, Agostinho Antunes

Biology Faculty Articles

Melanopsin is a photosensitive cell protein involved in regulating circadian rhythms and other non-visual responses to light. The melanopsin gene family is represented by two paralogs,OPN4x and OPN4m, which originated through gene duplication early in the emergence of vertebrates. Here we studied the melanopsin gene family using an integrated gene/protein evolutionary approach, which revealed that the rhabdomeric urbilaterian ancestor had the same amino acid patterns (DRY motif and the Y and E conterions) as extant vertebrate species, suggesting that the mechanism for light detection and regulation is similar to rhabdomeric rhodopsins. Both OPN4m and OPN4x paralogs are found …


How The Leopard Hides Its Spots: Asip Mutations And Melanism In Wild Cats, Alexsandra Schneider, Victor A. David, Warren E. Johnson, Stephen J. O'Brien, Gregory S. Barsh, Marilyn Menotti-Raymond, Eduardo Eizirik Dec 2012

How The Leopard Hides Its Spots: Asip Mutations And Melanism In Wild Cats, Alexsandra Schneider, Victor A. David, Warren E. Johnson, Stephen J. O'Brien, Gregory S. Barsh, Marilyn Menotti-Raymond, Eduardo Eizirik

Biology Faculty Articles

The occurrence of melanism (darkening of the background coloration) is documented in 13 felid species, in some cases reaching high frequencies at the population level. Recent analyses have indicated that it arose multiple times in the Felidae, with three different species exhibiting unique mutations associated with this trait. The causative mutations in the remaining species have so far not been identified, precluding a broader assessment of the evolutionary dynamics of melanism in the Felidae. Among these, the leopard (Panthera pardus) is a particularly important target for research, given the iconic status of the ‘black panther’ and the extremely …


The Principal Genetic Determinants For Nasopharyngeal Carcinoma In China Involve The Hla Class I Antigen Recognition Groove, Minzhong Tang, J. A. Lautenberger, Xiaojiang Gao, Efe Sezgin, Sher L. Hendrickson, Jennifer L. Troyer, Victor A. David, Li Guan, Carl Mcintosh, Xiuchan Guo, Yuming Zheng, Jian Liao, Hong Deng, Michael Malasky, Bailey Kessing, Cheryl Winkler, Mary Carrington, Guy De The, Yi Zeng, Stephen J. O'Brien Nov 2012

The Principal Genetic Determinants For Nasopharyngeal Carcinoma In China Involve The Hla Class I Antigen Recognition Groove, Minzhong Tang, J. A. Lautenberger, Xiaojiang Gao, Efe Sezgin, Sher L. Hendrickson, Jennifer L. Troyer, Victor A. David, Li Guan, Carl Mcintosh, Xiuchan Guo, Yuming Zheng, Jian Liao, Hong Deng, Michael Malasky, Bailey Kessing, Cheryl Winkler, Mary Carrington, Guy De The, Yi Zeng, Stephen J. O'Brien

Biology Faculty Articles

Nasopharyngeal carcinoma (NPC) is an epithelial malignancy facilitated by Epstein-Barr Virus infection. Here we resolve the major genetic influences for NPC incidence using a genome-wide association study (GWAS), independent cohort replication, and high-resolution molecular HLA class I gene typing including 4,055 study participants from the Guangxi Zhuang Autonomous Region and Guangdong province of southern China. We detect and replicate strong association signals involving SNPs, HLA alleles, and amino acid (aa) variants across the major histocompatibility complex-HLA-A, HLA –B, and HLA -C class I genes (PHLA-A-aa-site-62 = 7.4×10−29; P HLA-B-aa-site-116 = 6.5×10−19; P HLA-C-aa-site-156 = 6.8×10 …


Development And Characterization Of 11 Novel Microsatellite Loci For The Roundscale Spearfish Tetrapturus Georgii And Their Cross-Species Amplification Among Other Istiophorid Species, Andrea M. Bernard, Kevin A. Feldheim, Mahmood S. Shivji Oct 2012

Development And Characterization Of 11 Novel Microsatellite Loci For The Roundscale Spearfish Tetrapturus Georgii And Their Cross-Species Amplification Among Other Istiophorid Species, Andrea M. Bernard, Kevin A. Feldheim, Mahmood S. Shivji

Marine & Environmental Sciences Faculty Articles

Eleven novel polymorphic microsatellite loci were developed and characterized for the recently validated roundscale spearfish Tetrapturus georgii. Characterization of these markers, based on 35 roundscale spearfish from the western North Atlantic, revealed two to 21 alleles per locus with an average expected heterozygosity (HE) of 0·09–0·94, and all loci conformed to Hardy–Weinberg expectations. Cross-amplification of these 11 loci against all other eight known istiophorid species indicates promising prospects for the utility of these markers for istiophorids in general.


A Postulate For Tiger Recovery: The Case Of The Caspian Tiger, Carlos A. Driscoll, I. Chestin, H. Jungius, O. Pereladova, Y. Darman, E, Dinerstein, J. Seidensticker, J. Sanderson, S. Christie, Shu-Jin Luo, S. Shrestha, Y. Zhuravlev, Olga Uphyrkina, Y. V. Jhala, S. P. Yadav, D. G. Pikunov, Nobuyuki Yamaguchi, David E. Wildt, J. L. D. Smith, L. Marker, P. J. Nyhus, R. Tilson, David W. Macdonald, Stephen J. O'Brien Jun 2012

A Postulate For Tiger Recovery: The Case Of The Caspian Tiger, Carlos A. Driscoll, I. Chestin, H. Jungius, O. Pereladova, Y. Darman, E, Dinerstein, J. Seidensticker, J. Sanderson, S. Christie, Shu-Jin Luo, S. Shrestha, Y. Zhuravlev, Olga Uphyrkina, Y. V. Jhala, S. P. Yadav, D. G. Pikunov, Nobuyuki Yamaguchi, David E. Wildt, J. L. D. Smith, L. Marker, P. J. Nyhus, R. Tilson, David W. Macdonald, Stephen J. O'Brien

Biology Faculty Articles

Recent genetic analysis has shown that the extinct Caspian Tiger (P. t. virgata) and the living Amur Tigers (P. t. altaica) of the Russian Far East are actually taxonomically synonymous and that Caspian and Amur groups historically formed a single population, only becoming separated within the last 200 years by human agency. A major conservation implication of this finding is that tigers of Amur stock might be reintroduced, not only back into the Koreas and China as is now proposed, but also through vast areas of Central Asia where the Caspian tiger once lived. However, under the current tiger conservation …


A Streamlined Dna Tool For Global Identification Of Heavily Exploited Coastal Shark Species (Genus Rhizoprionodon), D. Pinhal, Mahmood S. Shivji, Pedro G. Nachtigall, Demian D. Chapman, Cesar Martins Apr 2012

A Streamlined Dna Tool For Global Identification Of Heavily Exploited Coastal Shark Species (Genus Rhizoprionodon), D. Pinhal, Mahmood S. Shivji, Pedro G. Nachtigall, Demian D. Chapman, Cesar Martins

Marine & Environmental Sciences Faculty Articles

Obtaining accurate species-specific landings data is an essential step toward achieving sustainable shark fisheries. Globally distributed sharpnose sharks (genus Rhizoprionodon) exhibit life-history characteristics (rapid growth, early maturity, annual reproduction) that suggests that they could be fished in a sustainable manner assuming an investment in monitoring, assessment and careful management. However, obtaining species-specific landings data for sharpnose sharks is problematic because they are morphologically very similar to one another. Moreover, sharpnose sharks may also be confused with other small sharks (either small species or juveniles of large species) once they are processed (i.e., the head and fins are removed). Here …


Emerging Viruses In The Felidae: Shifting Paradigms, Stephen J. O'Brien, Jennifer L. Troyer, Meredith Brown, Warren E. Johnson, Agostinho Antunes, Melody E. Roelke, Jill Pecon-Slattery Feb 2012

Emerging Viruses In The Felidae: Shifting Paradigms, Stephen J. O'Brien, Jennifer L. Troyer, Meredith Brown, Warren E. Johnson, Agostinho Antunes, Melody E. Roelke, Jill Pecon-Slattery

Biology Faculty Articles

The domestic cat is afflicted with multiple viruses that serve as powerful models for human disease including cancers, SARS and HIV/AIDS. Cat viruses that cause these diseases have been studied for decades revealing detailed insight concerning transmission, virulence, origins and pathogenesis. Here we review recent genetic advances that have questioned traditional wisdom regarding the origins of virulent Feline infectious peritonitis (FIP) diseases, the pathogenic potential of Feline Immunodeficiency Virus (FIV) in wild non-domestic Felidae species, and the restriction of Feline Leukemia Virus (FeLV) mediated immune impairment to domestic cats rather than other Felidae species. The most recent interpretations indicate important …


Subspecific Status Of The Korean Tiger Inferred By Ancient Dna Analysis, Mu-Yeong Lee, Jee Yun Hyun, Seo-Jin Lee, Junghwa An, Eunok Lee, Mi-Sook Min, Junpei Kimura, Shin-Ichirio Kawada, Nozomi Kurihara, Shu-Jin Luo, Stephen J. O'Brien, Warren E. Johnson, Hang Lee Jan 2012

Subspecific Status Of The Korean Tiger Inferred By Ancient Dna Analysis, Mu-Yeong Lee, Jee Yun Hyun, Seo-Jin Lee, Junghwa An, Eunok Lee, Mi-Sook Min, Junpei Kimura, Shin-Ichirio Kawada, Nozomi Kurihara, Shu-Jin Luo, Stephen J. O'Brien, Warren E. Johnson, Hang Lee

Biology Faculty Articles

The tiger population that once inhabited the Korean peninsula was initially considered a unique subspecies (Panthera tigris coreensis), distinct from the Amur tiger of the Russian Far East (P. t. altaica). However, in the following decades, the population of P. t. coreensis was classified as P. t. altaica and hence forth the two populations have been considered the same subspecies. From an ecological point of view, the classification of the Korean tiger population as P. t. altaica is a plausible conclusion. Historically, there were no major dispersal barriers between the Korean peninsula and the habitat of …


Tissue Sampling Methods And Standards For Vertebrate Genomics, Pamela B. Y. Wong, Edward O. Wiley, Warren E. Johnson, Oliver A. Ryder, Stephen J. O'Brien, David Haussler, Klaus-Peter Koepfli, Marlys L. Houck, Polina L. Perelman, Gabriela Mastromonaco, Andrew C. Bentley, Byrappa Venkatesh, Ya-Ping Zhang, Robert W. Murphy, Genome 10k Project Community Of Scientists Jan 2012

Tissue Sampling Methods And Standards For Vertebrate Genomics, Pamela B. Y. Wong, Edward O. Wiley, Warren E. Johnson, Oliver A. Ryder, Stephen J. O'Brien, David Haussler, Klaus-Peter Koepfli, Marlys L. Houck, Polina L. Perelman, Gabriela Mastromonaco, Andrew C. Bentley, Byrappa Venkatesh, Ya-Ping Zhang, Robert W. Murphy, Genome 10k Project Community Of Scientists

Biology Faculty Articles

The recent rise in speed and efficiency of new sequencing technologies have facilitated high-throughput sequencing, assembly and analyses of genomes, advancing ongoing efforts to analyze genetic sequences across major vertebrate groups. Standardized procedures in acquiring high quality DNA and RNA and establishing cell lines from target species will facilitate these initiatives. We provide a legal and methodological guide according to four standards of acquiring and storing tissue for the Genome 10K Project and similar initiatives as follows: four-star (banked tissue/cell cultures, RNA from multiple types of tissue for transcriptomes, and sufficient flash-frozen tissue for 1 mg of DNA, all from …


Mutation At The Human D1s80 Minisatellite Locus, Kuppareddi Balamurugan, Martin L. Tracey, Uwe Heine, George C. Maha, George Duncan Jan 2012

Mutation At The Human D1s80 Minisatellite Locus, Kuppareddi Balamurugan, Martin L. Tracey, Uwe Heine, George C. Maha, George Duncan

Biology Faculty Articles

Little is known about the general biology of minisatellites. The purpose of this study is to examine repeat mutations from the D1S80 minisatellite locus by sequence analysis to elucidate the mutational process at this locus. This is a highly polymorphic minisatellite locus, located in the subtelomeric region of chromosome 1. We have analyzed 90,000 human germline transmission events and found seven (7) mutations at this locus. The D1S80 alleles of the parentage trio, the child, mother, and the alleged father were sequenced and the origin of the mutation was determined. Using American Association of Blood Banks (AABB) guidelines, we found …


Genome Empowerment For The Puerto Rican Parrot – Amazona Vittata, Stephen J. O'Brien Jan 2012

Genome Empowerment For The Puerto Rican Parrot – Amazona Vittata, Stephen J. O'Brien

Biology Faculty Articles

A unique community-funded project in Puerto Rico has launched whole-genome sequencing of the critically endangered Puerto Rican Parrot (Amazona vittata), with interpretation by genome bioinformaticians and students, and deposition into public online databases. This is the first article that focuses on the whole genome of a parrot species, one endemic to the USA and recently threatened with extinction. It provides invaluable conservation tools and a vivid example of hopeful prospects for future genome assessment of so many new species. It also demonstrates inventive ways for smaller institutions to contribute to a field largely considered the domain of large …


Adaptive Evolution Of The Matrix Extracellular Phosphoglycoprotein In Mammals, Joao P. Machado, Warren E. Johnson, Stephen J. O'Brien, Vitor Vasconcelos, Agostinho Antunes Nov 2011

Adaptive Evolution Of The Matrix Extracellular Phosphoglycoprotein In Mammals, Joao P. Machado, Warren E. Johnson, Stephen J. O'Brien, Vitor Vasconcelos, Agostinho Antunes

Biology Faculty Articles

Background

Matrix extracellular phosphoglycoprotein (MEPE) belongs to a family of small integrin-binding ligand N-linked glycoproteins (SIBLINGs) that play a key role in skeleton development, particularly in mineralization, phosphate regulation and osteogenesis. MEPE associated disorders cause various physiological effects, such as loss of bone mass, tumors and disruption of renal function (hypophosphatemia). The study of this developmental gene from an evolutionary perspective could provide valuable insights on the adaptive diversification of morphological phenotypes in vertebrates.

Results

Here we studied the adaptive evolution of the MEPE gene in 26 Eutherian mammals and three birds. The comparative genomic analyses revealed a high degree …


Role Of Exonic Variation In Chemokine Receptor Genes On Aids: Ccrl2 F167y Association With Pneumocystis Pneumonia, Ping An, Rongling Li, Ji Ming Wang, Teizo Yoshimura, Munehisa Takahashi, Ram Samudralal, Stephen J. O'Brien, John Phair, James J. Goedert, Gregory D. Kirk, Jennifer L. Troyer, Efe Sezgin, Susan Buchbinder, Sharyne Donfield, George W. Nelson, Cheryl Winkler Oct 2011

Role Of Exonic Variation In Chemokine Receptor Genes On Aids: Ccrl2 F167y Association With Pneumocystis Pneumonia, Ping An, Rongling Li, Ji Ming Wang, Teizo Yoshimura, Munehisa Takahashi, Ram Samudralal, Stephen J. O'Brien, John Phair, James J. Goedert, Gregory D. Kirk, Jennifer L. Troyer, Efe Sezgin, Susan Buchbinder, Sharyne Donfield, George W. Nelson, Cheryl Winkler

Biology Faculty Articles

Chromosome 3p21–22 harbors two clusters of chemokine receptor genes, several of which serve as major or minor coreceptors of HIV-1. Although the genetic association of CCR5 andCCR2 variants with HIV-1 pathogenesis is well known, the role of variation in other nearby chemokine receptor genes remain unresolved. We genotyped exonic single nucleotide polymorphisms (SNPs) in chemokine receptor genes: CCR3, CCRL2, and CXCR6 (at 3p21) and CCR8 and CX3CR1 (at 3p22), the majority of which were non-synonymous. The individual SNPs were tested for their effects on disease progression and outcomes in five treatment-naïve HIV-1/AIDS natural history cohorts. In …


Evolution Of A Major Drug Metabolizing Enzyme Defect In The Domestic Cat And Other Felidae: Phylogenetic Timing And The Role Of Hypercarnivory, Binu Shrestha, J. Michael Reed, Philip T. Starks, Gretchen E. Kaufman, Jared V. Goldstone, Melody E. Roelke, Stephen J. O'Brien, Klaus-Peter Koepfli, Laurence Frank, Michael H. Court Mar 2011

Evolution Of A Major Drug Metabolizing Enzyme Defect In The Domestic Cat And Other Felidae: Phylogenetic Timing And The Role Of Hypercarnivory, Binu Shrestha, J. Michael Reed, Philip T. Starks, Gretchen E. Kaufman, Jared V. Goldstone, Melody E. Roelke, Stephen J. O'Brien, Klaus-Peter Koepfli, Laurence Frank, Michael H. Court

Biology Faculty Articles

The domestic cat (Felis catus) shows remarkable sensitivity to the adverse effects of phenolic drugs, including acetaminophen and aspirin, as well as structurally-related toxicants found in the diet and environment. This idiosyncrasy results from pseudogenization of the gene encoding UDP-glucuronosyltransferase (UGT) 1A6, the major species-conserved phenol detoxification enzyme. Here, we established the phylogenetic timing of disruptive UGT1A6 mutations and explored the hypothesis that gene inactivation in cats was enabled by minimal exposure to plant-derived toxicants. Fixation of the UGT1A6 pseudogene was estimated to have occurred between 35 and 11 million years ago with all extant Felidae having dysfunctional …


A Molecular Phylogeny Of Living Primates, Polina L. Perelman, Warren E. Johnson, Christian Roos, Hector Seuanez, Julie E. Horvath, Miguel A. M. Moreira, Bailey Kessing, J. U. Pontius, Melody E. Roelke, Yves Rumpler, Maria P. C. Schneider, Artur Silva, Stephen J. O'Brien, Jill Pecon-Slattery Mar 2011

A Molecular Phylogeny Of Living Primates, Polina L. Perelman, Warren E. Johnson, Christian Roos, Hector Seuanez, Julie E. Horvath, Miguel A. M. Moreira, Bailey Kessing, J. U. Pontius, Melody E. Roelke, Yves Rumpler, Maria P. C. Schneider, Artur Silva, Stephen J. O'Brien, Jill Pecon-Slattery

Biology Faculty Articles

Comparative genomic analyses of primates offer considerable potential to define and understand the processes that mold, shape, and transform the human genome. However, primate taxonomy is both complex and controversial, with marginal unifying consensus of the evolutionary hierarchy of extant primate species. Here we provide new genomic sequence (~8 Mb) from 186 primates representing 61 (~90%) of the described genera, and we include outgroup species from Dermoptera, Scandentia, and Lagomorpha. The resultant phylogeny is exceptionally robust and illuminates events in primate evolution from ancient to recent, clarifying numerous taxonomic controversies and providing new data on human evolution. Ongoing speciation, reticulate …


Genome-Wide Characterization Of Centromeric Satellites From Multiple Mammalian Genomes, Can Alkan, Maria Francesca Cardone, Claudia Rita Catacchio, Francesca Antonacci, Stephen J. O'Brien, Oliver A. Ryder, Stefania Purgato, Monica Zoli, Evan E. Eichler, Mario Ventura Jan 2011

Genome-Wide Characterization Of Centromeric Satellites From Multiple Mammalian Genomes, Can Alkan, Maria Francesca Cardone, Claudia Rita Catacchio, Francesca Antonacci, Stephen J. O'Brien, Oliver A. Ryder, Stefania Purgato, Monica Zoli, Evan E. Eichler, Mario Ventura

Biology Faculty Articles

Despite its importance in cell biology and evolution, the centromere has remained the final frontier in genome assembly and annotation due to its complex repeat structure. However, isolation and characterization of the centromeric repeats from newly sequenced species are necessary for a complete understanding of genome evolution and function. In recent years, various genomes have been sequenced, but the characterization of the corresponding centromeric DNA has lagged behind. Here, we present a computational method (RepeatNet) to systematically identify higher-order repeat structures from unassembled whole-genome shotgun sequence and test whether these sequence elements correspond to functional centromeric sequences. We analyzed genome …


Genetic Introgression And The Survival Of Florida Panther Kittens, Jeffrey A. Hostetler, David P. Onorato, James D. Nichols, Warren E. Johnson, Melody E. Roelke, Stephen J. O'Brien, Deborah Jansen, Madan K. Oli Nov 2010

Genetic Introgression And The Survival Of Florida Panther Kittens, Jeffrey A. Hostetler, David P. Onorato, James D. Nichols, Warren E. Johnson, Melody E. Roelke, Stephen J. O'Brien, Deborah Jansen, Madan K. Oli

Biology Faculty Articles

Estimates of survival for the young of a species are critical for population models. These models can often be improved by determining the effects of management actions and population abundance on this demographic parameter. We used multiple sources of data collected during 1982–2008 and a live-recapture dead-recovery modeling framework to estimate and model survival of Florida panther (Puma concolor coryi) kittens (age 0–1 year). Overall, annual survival of Florida panther kittens was 0.323 ± 0.071 (SE), which was lower than estimates used in previous population models. In 1995, female pumas from Texas (P. c. stanleyana) were …


Genetic Variants In Nuclear-Encoded Mitochondrial Genes Influence Aids Progression, Sher L. Hendrickson, J. A. Lautenberger, Leslie Wei Chinn, Michael Malasky, Lawrence Kingsley, James J. Goedert, Gregory D. Kirk, Edward Gomperts, Susan Buchbinder, Jennifer L. Troyer, Stephen J. O'Brien Sep 2010

Genetic Variants In Nuclear-Encoded Mitochondrial Genes Influence Aids Progression, Sher L. Hendrickson, J. A. Lautenberger, Leslie Wei Chinn, Michael Malasky, Lawrence Kingsley, James J. Goedert, Gregory D. Kirk, Edward Gomperts, Susan Buchbinder, Jennifer L. Troyer, Stephen J. O'Brien

Biology Faculty Articles

Background: The human mitochondrial genome includes only 13 coding genes while nuclear-encoded genes account for 99% of proteins responsible for mitochondrial morphology, redox regulation, and energetics. Mitochondrial pathogenesis occurs in HIV patients and genetically, mitochondrial DNA haplogroups with presumed functional differences have been associated with differential AIDS progression.

Methodology/Principal Findings: Here we explore whether single nucleotide polymorphisms (SNPs) within 904 of the estimated 1,500 genes that specify nuclear-encoded mitochondrial proteins (NEMPs) influence AIDS progression among HIV-1 infected patients. We examined NEMPs for association with the rate of AIDS progression using genotypes generated by an Affymetrix 6.0 genotyping array of 1,455 …


Genetic Polymorphisms Of Cyp2e1, Gstp1, Nqo1 And Mpo And The Risk Of Nasopharyngeal Carcinoma In A Han Chinese Population Of Southern China, Xiuchan Guo, Yi Zeng, Hong Deng, Jian Liao, Yuming Zheng, Ji Li, Bailey Kessing, Stephen J. O'Brien Jul 2010

Genetic Polymorphisms Of Cyp2e1, Gstp1, Nqo1 And Mpo And The Risk Of Nasopharyngeal Carcinoma In A Han Chinese Population Of Southern China, Xiuchan Guo, Yi Zeng, Hong Deng, Jian Liao, Yuming Zheng, Ji Li, Bailey Kessing, Stephen J. O'Brien

Biology Faculty Articles

Background

Southern China is a major area for endemic nasopharyngeal carcinoma (NPC). Genetic factors as well as environmental factors play a role in development of NPC. To investigate the roles of previously described carcinogen metabolism gene variants for NPC susceptibility in a Han Chinese population, we conducted a case-control study in two independent study population groups afflicted with NPC in Guangdong and Guangxi Provinces of southern China.

Methods

Five single nucleotide polymorphisms (SNPs) of CYP2E1-rs2031920, CYP2E1-rs6413432, GSTP1-rs947894, MPO-rs2333227 and NQO1-rs1800566 were genotyped by PCR-based RFLP, sequencing and TaqMan assay in 358 NPC cases and 629 …


Light Whole Genome Sequence For Snp Discovery Across Domestic Cat Breeds, James C. Mullikin, Nancy F. Hansen, Lei Shen, Heather Ebling, William F. Donahue, Wei Tao, David J. Saranga, Adrianne Brand, Marc J. Rubenfield, Alice C. Young, Pedro Cruz, Carlos Driscoll, Victor David, Samer W. K. Al-Murrani, Mary F. Locniskar, Mitchell S. Abrahamsen, Stephen J. O'Brien, Douglas R. Smith, Jeffrey A. Brockman Jan 2010

Light Whole Genome Sequence For Snp Discovery Across Domestic Cat Breeds, James C. Mullikin, Nancy F. Hansen, Lei Shen, Heather Ebling, William F. Donahue, Wei Tao, David J. Saranga, Adrianne Brand, Marc J. Rubenfield, Alice C. Young, Pedro Cruz, Carlos Driscoll, Victor David, Samer W. K. Al-Murrani, Mary F. Locniskar, Mitchell S. Abrahamsen, Stephen J. O'Brien, Douglas R. Smith, Jeffrey A. Brockman

Biology Faculty Articles

Background

The domestic cat has offered enormous genomic potential in the veterinary description of over 250 hereditary disease models as well as the occurrence of several deadly feline viruses (feline leukemia virus -- FeLV, feline coronavirus -- FECV, feline immunodeficiency virus - FIV) that are homologues to human scourges (cancer, SARS, and AIDS respectively). However, to realize this bio-medical potential, a high density single nucleotide polymorphism (SNP) map is required in order to accomplish disease and phenotype association discovery.

Description

To remedy this, we generated 3,178,297 paired fosmid-end Sanger sequence reads from seven cats, and combined these data with the …


Molecular Evolution And The Role Of Oxidative Stress In The Expansion And Functional Diversification Of Cytosolic Glutathione Transferases, Rute R. Da Fonseca, Warren E. Johnson, Stephen J. O'Brien, Vitor Vasconcelos, Agostinho Antunes Jan 2010

Molecular Evolution And The Role Of Oxidative Stress In The Expansion And Functional Diversification Of Cytosolic Glutathione Transferases, Rute R. Da Fonseca, Warren E. Johnson, Stephen J. O'Brien, Vitor Vasconcelos, Agostinho Antunes

Biology Faculty Articles

Background: Cytosolic glutathione transferases (cGST) are a large group of ubiquitous enzymes involved in detoxification and are well known for their undesired side effects during chemotherapy. In this work we have performed thorough phylogenetic analyses to understand the various aspects of the evolution and functional diversification of cGSTs. Furthermore, we assessed plausible correlations between gene duplication and substrate specificity of gene paralogs in humans and selected species, notably in mammalian enzymes and their natural substrates.

Results: We present a molecular phylogeny of cytosolic GSTs that shows that several classes of cGSTs are more ubiquitous and thus have an …


Accounting For Multiple Comparisons In A Genome-Wide Association Study (Gwas), Randall C. Johnson, George W. Nelson, Jennifer L. Troyer, J. A. Lautenberger, Bailey Kessing, Cheryl Winkler, Stephen J. O'Brien Jan 2010

Accounting For Multiple Comparisons In A Genome-Wide Association Study (Gwas), Randall C. Johnson, George W. Nelson, Jennifer L. Troyer, J. A. Lautenberger, Bailey Kessing, Cheryl Winkler, Stephen J. O'Brien

Biology Faculty Articles

Background

As we enter an era when testing millions of SNPs in a single gene association study will become the standard, consideration of multiple comparisons is an essential part of determining statistical significance. Bonferroni adjustments can be made but are conservative due to the preponderance of linkage disequilibrium (LD) between genetic markers, and permutation testing is not always a viable option. Three major classes of corrections have been proposed to correct the dependent nature of genetic data in Bonferroni adjustments: permutation testing and related alternatives, principal components analysis (PCA), and analysis of blocks of LD across the genome. We consider …


Common Genetic Variation And The Control Of Hiv-1 In Humans, Jacques Fellay, Dongliang Ge, Kevin V. Shianna, Sara Colombo, Bruno Ledergerber, Elizabeth T. Cirulli, Thomas J. Urban, Kunlin Zhang, Curtis Gumbs, Jason P. Smith, Antonella Castagna, Alessandro Cozzi-Lepri, Andrea De Luca, Philippa Easterbrook, Huldrych F. Gunthard, Simon Mallal, Cristina Mussini, Judith Dalmau, Javier Martinez-Picado, Jose M. Miro, Niels Obel, Steven M. Wolinsky, Jeremy J. Martinson, Roger Detels, Joseph Margolick, Lisa Jacobson, Patrick Descombes, Stylianos E. Antonarakis, Jacques S. Beckmann, Stephen J. O'Brien, Norman L. Letvin, Andrew J. Mcmichael, Barton F. Haynes, Mary Carrington, Sheng Feng, Amalio Telenti, David B. Goldstein, Niaid Center For Hiv/Aids Vaccine Immunology (Chavi) Dec 2009

Common Genetic Variation And The Control Of Hiv-1 In Humans, Jacques Fellay, Dongliang Ge, Kevin V. Shianna, Sara Colombo, Bruno Ledergerber, Elizabeth T. Cirulli, Thomas J. Urban, Kunlin Zhang, Curtis Gumbs, Jason P. Smith, Antonella Castagna, Alessandro Cozzi-Lepri, Andrea De Luca, Philippa Easterbrook, Huldrych F. Gunthard, Simon Mallal, Cristina Mussini, Judith Dalmau, Javier Martinez-Picado, Jose M. Miro, Niels Obel, Steven M. Wolinsky, Jeremy J. Martinson, Roger Detels, Joseph Margolick, Lisa Jacobson, Patrick Descombes, Stylianos E. Antonarakis, Jacques S. Beckmann, Stephen J. O'Brien, Norman L. Letvin, Andrew J. Mcmichael, Barton F. Haynes, Mary Carrington, Sheng Feng, Amalio Telenti, David B. Goldstein, Niaid Center For Hiv/Aids Vaccine Immunology (Chavi)

Biology Faculty Articles

To extend the understanding of host genetic determinants of HIV-1 control, we performed a genome-wide association study in a cohort of 2,554 infected Caucasian subjects. The study was powered to detect common genetic variants explaining down to 1.3% of the variability in viral load at set point. We provide overwhelming confirmation of three associations previously reported in a genome-wide study and show further independent effects of both common and rare variants in the Major Histocompatibility Complex region (MHC). We also examined the polymorphisms reported in previous candidate gene studies and fail to support a role for any variant outside of …


Genome 10k: A Proposal To Obtain Whole-Genome Sequence For 10000 Vertebrate Species, David Haussler, Stephen J. O'Brien, Oliver A. Ryder, F. Keith Barker, Michele Clamp, Andrew J. Crawford, Robert Hanner, Olivier Hanotte, Warren E. Johnson, Jimmy A. Mcguire, Webb Miller, Robert W. Murphy, William J. Murphy, Frederick H. Sheldon, Barry Sinervo, Byrappa Venkatesh, Edward O. Wiley, Fred W. Allendorf, George Amato, C. Scott Baker, Aaron Bauer, Albano Beja-Pereira, Eldredge Bermingham, Giacomo Bernardi, Cibele R. Bonvicino, Sydney Brenner, Terry Burke, Joel Cracraft, Mark Diekhans Nov 2009

Genome 10k: A Proposal To Obtain Whole-Genome Sequence For 10000 Vertebrate Species, David Haussler, Stephen J. O'Brien, Oliver A. Ryder, F. Keith Barker, Michele Clamp, Andrew J. Crawford, Robert Hanner, Olivier Hanotte, Warren E. Johnson, Jimmy A. Mcguire, Webb Miller, Robert W. Murphy, William J. Murphy, Frederick H. Sheldon, Barry Sinervo, Byrappa Venkatesh, Edward O. Wiley, Fred W. Allendorf, George Amato, C. Scott Baker, Aaron Bauer, Albano Beja-Pereira, Eldredge Bermingham, Giacomo Bernardi, Cibele R. Bonvicino, Sydney Brenner, Terry Burke, Joel Cracraft, Mark Diekhans

Biology Faculty Articles

The human genome project has been recently complemented by whole-genome assessment sequence of 32 mammals and 24 nonmammalian vertebrate species suitable for comparative genomic analyses. Here we anticipate a precipitous drop in costs and increase in sequencing efficiency, with concomitant development of improved annotation technology and, therefore, propose to create a collection of tissue and DNA specimens for 10000 vertebrate species specifically designated for whole-genome sequencing in the very near future. For this purpose, we, the Genome 10K Community of Scientists (G10KCOS), will assemble and allocate a biospecimen collection of some 16203 representative vertebrate species spanning evolutionary diversity across living …


Every Genome Sequence Needs A Good Map, Harris A. Lewin, Denis M. Larkin, J. U. Pontius, Stephen J. O'Brien Nov 2009

Every Genome Sequence Needs A Good Map, Harris A. Lewin, Denis M. Larkin, J. U. Pontius, Stephen J. O'Brien

Biology Faculty Articles

No abstract provided.


Ccl3l1 And Hiv/Aids Susceptibility, Thomas J. Urban, Amy C. Weintrob, Jacques Fellay, Sara Colombo, Kevin V. Shianna, Curtis Gumbs, Margalida Rotger, Kimberly Pelak, Kristen K. Dang, Roger Detels, Jeremy J. Martinson, Stephen J. O'Brien, Norman L. Letvin, Andrew J. Mcmichael, Barton F. Haynes, Mary Carrington, Amalio Telenti, Nelson L. Michael, David B. Goldstein Oct 2009

Ccl3l1 And Hiv/Aids Susceptibility, Thomas J. Urban, Amy C. Weintrob, Jacques Fellay, Sara Colombo, Kevin V. Shianna, Curtis Gumbs, Margalida Rotger, Kimberly Pelak, Kristen K. Dang, Roger Detels, Jeremy J. Martinson, Stephen J. O'Brien, Norman L. Letvin, Andrew J. Mcmichael, Barton F. Haynes, Mary Carrington, Amalio Telenti, Nelson L. Michael, David B. Goldstein

Biology Faculty Articles

No abstract provided.


Genetics And Pathogenesis Of Feline Infectious Peritonitis Virus, Meredith Brown, Jennifer L. Troyer, Jill Pecon-Slattery, M. Roelke-Parker, Stephen J. O'Brien Sep 2009

Genetics And Pathogenesis Of Feline Infectious Peritonitis Virus, Meredith Brown, Jennifer L. Troyer, Jill Pecon-Slattery, M. Roelke-Parker, Stephen J. O'Brien

Biology Faculty Articles

Feline coronavirus (FCoV) is endemic in feral cat populations and cat colonies, frequently preceding outbreaks of fatal feline infectious peritonitis (FIP). FCoV exhibits 2 biotypes: the pathogenic disease and a benign infection with feline enteric coronavirus (FECV). Uncertainty remains regarding whether genetically distinctive avirulent and virulent forms coexist or whether an avirulent form mutates in vivo, causing FIP. To resolve these alternative hypotheses, we isolated viral sequences from FCoV-infected clinically healthy and sick cats (8 FIP cases and 48 FECV-asymptomatic animals); 735 sequences from 4 gene segments were generated and subjected to phylogenetic analyses. Viral sequences from healthy cats were …


The Taming Of The Cat, Carlos A. Driscoll, Juliet Clutton-Brock, Andrew C. Kitchener, Stephen J. O'Brien Jun 2009

The Taming Of The Cat, Carlos A. Driscoll, Juliet Clutton-Brock, Andrew C. Kitchener, Stephen J. O'Brien

Biology Faculty Articles

This article discusses research into the evolution of domesticated cats, which is complicated by the fact that they do not appear to serve humans. Although several species are morphologically similar, genetic research focusing on mitochondrial DNA and genetic microsatellites found that domesticated cats descended from F. sylvestris lybica. Archaeological research indicating cats came to live with humans as the prevalence of house mice in agricultural settlements increased is noted. Insets: The House Cat's Ancestor; Early Domestication; From Wild to Mild; The Truth about Cats and Dogs