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An ∼140-Kb Deletion Associated With Feline Spinal Muscular Atrophy Implies An Essential Lix1 Function For Motor Neuron Survival, John C. Fyfe, Marilyn Menotti-Raymond, Victor A. David, Lars Brichta, Alejandro A. Schaffer, R. Agarwala, William J. Murphy, William J. Wedemeyer, Brittany L. Gregory, Bethany G. Buzzell, Meghan C. Drummond, Brunhilde Wirth, Stephen J. O'Brien

Biology Faculty Articles

The leading genetic cause of infant mortality is spinal muscular atrophy (SMA), a clinically and genetically heterogeneous group of disorders. Previously we described a domestic cat model of autosomal recessive, juvenile-onset SMA similar to human SMA type III. Here we report results of a whole-genome scan for linkage in the feline SMA pedigree using recently developed species-specific and comparative mapping resources. We identified a novel SMA gene candidate, LIX1, in an ~140-kb deletion on feline chromosome A1q in a region of conserved synteny to human chromosome 5q15. Though LIX1 function is unknown, the predicted secondary structure is compatible with …

Kir/Hla Pleiotropism: Protection Against Both Hiv And Opportunistic Infections, Ying Qi, Maureen P. Martin, Xiaojiang Gao, Lisa Jacobson, James J. Goedert, Susan Buchbinder, Gregory D. Kirk, Stephen J. O'Brien, John Trowsdale, Mary Carrington

Biology Faculty Articles

The compound genotype KIR3DS1/HLA-B Bw4-80I, which presumably favors natural killer cell activation, has been implicated in protection against HIV disease. We show that this genotype confers dual protection over the course of HIV disease; early direct containment of HIV viral load, and late specific defense against opportunistic infections, but not AIDS-related malignancies. The double protection of KIR3DS1/Bw4-80I in an etiologically complex disease such as AIDS, along with the disease specificity of its effects is conceptually novel and underscores the intricacy of host immunogenetics against HIV/AIDS.

Integration Of Hybridization-Based Markers (Overgos) Into Physical Maps For Comparative And Evolutionary Explorations In The Genus Oryza And In Sorghum, Barbara L. Hass-Jacobus, Montona Futrell-Griggs, Brian Abernathy, Rick Westerman, Jose-Luis Goicoechea, Joshua Stein, Patricia Klein, Bonnie Hurwitz, Bin Zhou, Fariborz Rakhshan, Abhijit Sanyal, Navdeep Gill, Jer-Young Lin, Jason G. Walling, Mei Zhong Luo, Jetty Siva S Ammiraju, Dave Kudrna, Hye Ran Kim, Doreen Ware, Rod A. Wing, Phillip San Miguel, Scott A. Jackson

Biology Faculty Articles

Background: With the completion of the genome sequence for rice (Oryza sativa L.), the focus of rice genomics research has shifted to the comparison of the rice genome with genomes of other species for gene cloning, breeding, and evolutionary studies. The genus Oryza includes 23 species that shared a common ancestor 8–10 million years ago making this an ideal model for investigations into the processes underlying domestication, as many of the Oryza species are still undergoing domestication. This study integrates high-throughput, hybridization-based markers with BAC end sequence and fingerprint data to construct physical maps of rice chromosome 1 orthologues in …

Consistent Effects Of Tsg101 Genetic Variability On Multiple Outcomes Of Exposure To Human Immunodeficiency Virus Type 1, Arman A. Bashirova, Gabriela Bleiber, Ying Qi, Holli Hutcheson, Traci Yamashita, Randall C. Johnson, Jie Cheng, Galit Alter, James J. Goedert, Susan Buchbinder, Keith Hoots, David Vlahov, Margaret May, Frank Maldarelli, Lisa Jacobson, Stephen J. O'Brien, Amalio Telenti, Mary Carrington

Biology Faculty Articles

Tumor susceptibility gene 101 (TSG101) encodes a host cellular protein that is appropriated by human immunodeficiency virus type 1 (HIV-1) in the budding process of viral particles from infected cells. Variation in the coding or noncoding regions of the gene could potentially affect the degree of TSG101-mediated release of viral particles. While the coding regions of the gene were found to lack nonsynonymous variants, two polymorphic sites in the TSG101 5' area were identified that were associated with the rate of AIDS progression among Caucasians. These single-nucleotide polymorphisms (SNPs), located at positions -183 and +181 relative to the …

Genetic Factors Leading To Chronic Epstein–Barr Virus Infection And Nasopharyngeal Carcinoma In South East China: Study Design, Methods And Feasibility, Xiu Chan Guo, Kevin Scott, Yan Liu, Michael Dean, Victor David, George W. Nelson, Randall C. Johnson, Holli H. Dilks, J. A. Lautenberger, Bailey Kessing, Janice S. Martenson, Li Guan, Shan Sun, Hong Deng, Yuming Zheng, Guy De The, Jian Liao, Yi Zeng, Stephen J. O'Brien, Cheryl Winkler

Biology Faculty Articles

Nasopharyngeal carcinoma (NPC) is a complex disease caused by a combination of Epstein-Barr virus chronic infection, the environment and host genes in a multi-step process of carcinogenesis. The identity of genetic factors involved in the development of chronic Epstein-Barr virus infection and NPC remains elusive, however. Here, we describe a two-phase, population-based, case-control study of Han Chinese from Guangxi province, where the NPC incidence rate rises to a high of 25-50 per 100,000 individuals. Phase I, powered to detect single gene associations, enrolled 984 subjects to determine feasibility, to develop infrastructure and logistics and to determine error rates in sample …

Modern Biological Approaches To Folk Medicines And Traditional Antifungal Therapies, Matthew G. Jessulat, Robert P. Smith, Nadereh H. Mir-Rashed, Golshani Ashkan, John Thor Arnason, Myron L. Smith

Biology Faculty Articles

No abstract provided.

Emotions And Actions Associated With Altruistic Helping And Punishment, Omar Tonsi Eldakar, David Sloan Wilson, Rick O'Gorman

Biology Faculty Articles

Evolutionary altruism (defined in terms of fitness effects) exists in the context of punishment in addition to helping. We examine the proximate psychological mechanisms that motivate altruistic helping and punishment, including the effects of genetic relatedness, potential for future interactions, and individual differences in propensity to help and punish. A cheater who is a genetic relative provokes a stronger emotional reaction than a cheater who is a stranger, but the behavioral response is modulated to avoid making the transgression public in the case of cheating relatives. Numerous behavioral differences are not accompanied by emotional differences, suggesting that other psychological mechanisms …

Cortisol Concentrations In Human Skeletal Muscle Tissue After Phonophoresis With 10% Hydrocortisone Gel, Amanda R. Kuntz, Christine Multer Griffiths, James M. Rankin, Charles W. Armstrong, Thomas J. Mcloughlin

Biology Faculty Articles

CONTEXT: The delivery of hydrocortisone through phonophoresis is a widely prescribed technique for the treatment of various musculoskeletal inflammatory conditions. However, limited scientific evidence exists to support the efficacy of phonophoresis in delivering hydrocortisone to skeletal muscle tissue in humans.

OBJECTIVE: To determine hydrocortisone (cortisol) concentrations in human skeletal muscle tissue after a phonophoresis treatment using 10% hydrocortisone gel.

DESIGN: Randomized design in which 12 subjects were randomly assigned to either an ultrasound (sham) treatment or a 10% hydrocortisone phonophoresis treatment.

SETTING: Laboratory.

PATIENTS OR OTHER PARTICIPANTS: Twelve healthy subjects (8 women, 4 men: age = 22.3 +/- 2.64 years, …