Research Topics
Genomes and GenesSpecies | William S OettingSummaryAffiliation: University of Minnesota Country: USA Publications
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Publications
AlbinismW S Oetting
Department of Medicine, University of Minnesota, Minneapolis 55455, USA
Curr Opin Pediatr 11:565-71. 1999..Analysis of mutations in these seven genes has revealed that the phenotypic spectrum associated with albinism is broad, making molecular analysis an important part in the accurate diagnosis of this disease...- The 2006 Human Genome Variation Society scientific meetingWilliam S Oetting
School of Pharmacy, University of Minnesota, Minneapolis, Minnesota, USA
Hum Mutat 28:517-21. 2007..These talks are representative of the questions, problems, and solutions that are being considered by researchers involved in the study of variation in the human genome... - Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. OnlineW S Oetting
Department of Medicine, University of Minnesota 55455, Minneapolis, MN, USA
Hum Mutat 12:433-4. 1998..Mutational analysis can provide a definitive diagnosis of the type of OCA as well as help structure/function analysis... - Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. OnlineW S Oetting
Department of Medicine, University of Minnesota, Minneapolis 55455, MN, USA
Hum Mutat 12:434. 1998..Further mutational analysis is needed to help define the critical functional domains of the P protein and to allow a definitive diagnosis of OCA2... - Gene expression analysisW S Oetting
Department of Medicine, University of Minnesota, Minneapolis 55455, USA
Pigment Cell Res 13:21-7. 2000..Three techniques, two-dimensional gel electrophoresis, differential display, and gene discovery arrays, provide opportunities for measuring changes in gene expression levels, as well as for identifying novel gene products... - The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formationW S Oetting
Department of Medicine, University of Minnesota, Minneapolis 55455, USA
Pigment Cell Res 13:320-5. 2000..Several questions still remain, including cryptic mutations that affect tyrosinase activity and the minimum amount of pigment required for normal optic development. The next 10 years should prove just as exciting as the last... - Evidence for genetic heterogeneity in families with congenital motor nystagmus (CN)W S Oetting
Department of Medicine, University of Minnesota, Minneapolis, Minnesota, 55455, USA
Ophthalmic Genet 21:227-33. 2000..82, straight theta=0.0, for marker D6S459 located at 6p12, thus excluding the chromosome 6 locus. This provides evidence for at least a fourth locus associated with CN... - Molecular analysis of an extended Palestinian family from Israel with monilethrixW S Oetting
Department of Medicine, University of Minnesota, Minneapolis 55455, USA
Genet Med 1:109-11. 1999..The family in our study provides further evidence that mutations of the hHb6 gene are responsible for monilethrix... - 2005 Human Genome Variation Society Scientific MeetingWilliam S Oetting
Department of Medicine, University of Minnesota, Minneapolis, Minnesota 55455, USA
Hum Mutat 27:286-9. 2006..The human genome era is moving into a new phase, and these talks are representative of the new directions in which the study of human DNA variation is going in this exciting area of research... - Oculocutaneous albinism type 1: the last 100 yearsWilliam S Oetting
Department of Medicine, University of Minnesota, Minneapolis, MN, USA
Pigment Cell Res 16:307-11. 2003..Though much of the research in albinism has involved OCA1, there are many unanswered questions about OCA1 and albinism, in general. The next 100 yr should still provide many surprises as did the first 100 yr... - The 2004 Human Genome Variation Society scientific meetingWilliam S Oetting
Department ofMedicine, Genetics and Institute of Human Genetics, University of Minnesota, Minneapolis, MN 55455, USA
Hum Mutat 26:160-3. 2005..New mutation detection methods and methods to identify the effect of a mutation on phenotype were also presented. This meeting report summarizes these presentations... - P gene mutations associated with oculocutaneous albinism type II (OCA2)William S Oetting
Department of Medicine, Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota 55455, USA
Hum Mutat 25:323. 2005..This information will also help define the critical functional domains of the P protein. Mutations associated with OCA2 can be found in the Albinism Database (http://albinismdb.med.umn.edu)... - Multiplexed short tandem repeat polymorphisms of the Weber 8A set of markers using tailed primers and infrared fluorescence detectionW S Oetting
Department of Medicine, University of Minnesota, Minneapolis 55455, USA
Electrophoresis 19:3079-83. 1998..The STRP banding pattern is detected using an automated fluorescent DNA sequencer. Use of this multiplexed genomic screening set should greatly enhance the mapping of human disease loci... - The clinical spectrum of albinism in humansW S Oetting
Department of Medicine, University of Minnesota, Minneapolis 55455, USA
Mol Med Today 2:330-5. 1996..Analysis of these mutations might provide the insight that we need to understand the interaction between the pigment system and the development of the optic system... 
Genetic and clinical determinants of early, acute calcineurin inhibitor-related nephrotoxicity: results from a kidney transplant consortiumPamala A Jacobson
Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, USA
Transplantation 93:624-31. 2012..Clinical factors and elevated CNI levels are associated with nephrotoxicity; however, they do not fully explain the risk. Genetic factors may also predispose individuals to nephrotoxicity...- Validation of tacrolimus equation to predict troughs using genetic and clinical factorsChaitali Passey
Department of Experimental and Clinical Pharmacology, 717 Delaware Street, University of Minnesota, Minneapolis, MN 55455, USA
Pharmacogenomics 13:1141-7. 2012..Tacrolimus is an immunosuppressant used in transplantation. This article reports the validation of the authors' recently developed genetics-based tacrolimus equation that predicts troughs... 
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinismWilliam S Oetting
Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, Minnesota 55455, USA
Am J Med Genet A 149:466-9. 2009..We conclude that the codon 402 variant of the tyrosinase gene is not associated with albinism...- Novel polymorphisms associated with tacrolimus trough concentrations: results from a multicenter kidney transplant consortiumPamala A Jacobson
Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, MN 55455, USA
Transplantation 91:300-8. 2011..Although its effect is important, it incompletely explains the variability in tacrolimus concentrations and has a relatively low minor allele frequency in whites relative to African Americans (AA)... - Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotypeRichard A King
Department of Medicine, University of Minnesota, Minneapolis, Minn 55455, USA
Hum Genet 113:502-13. 2003.... - Genetic determinants of mycophenolate-related anemia and leukopenia after transplantationPamala A Jacobson
Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, USA
Transplantation 91:309-16. 2011..Toxicity leads to dose reduction, addition of colony-stimulating factors or erythropoietin, or discontinuation of immunosuppressive therapy. The causes of and risk factors associated with toxicity are unclear... - Validation of genetic variants associated with early acute rejection in kidney allograft transplantationWilliam S Oetting
Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, MN 55455, USA
Clin Transplant 26:418-23. 2012..The lack of validation for the other 19 variants may be due to the small effect size, or that, they are not associated with AR. These results stress the need for larger cohorts for both future studies as well as for validation studies... - Dosing equation for tacrolimus using genetic variants and clinical factorsChaitali Passey
Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, MN 55455, USA
Br J Clin Pharmacol 72:948-57. 2011..To develop a dosing equation for tacrolimus, using genetic and clinical factors from a large cohort of kidney transplant recipients. Clinical factors and six genetic variants were screened for importance towards tacrolimus clearance (CL/F)... - Validation of single nucleotide polymorphisms associated with acute rejection in kidney transplant recipients using a large multi-center cohortWilliam S Oetting
College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, USA
Transpl Int 24:1231-8. 2011..Our results suggest that careful validation of previously reported associations with AR is necessary, and different strategies other than candidate gene studies can help to identify causative genetic variants associated with AR... - MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)Richard A King
Department of Genetics, University of Minnesota, Minneapolis, MN, 55455, USA
Am J Hum Genet 73:638-45. 2003..This is the first demonstration of a gene modifying the OCA phenotype in humans... - The Minnesota Center for Twin and Family Research genome-wide association studyMichael B Miller
Department of Psychology, University of Minnesota, Minneapolis, MN, USA
Twin Res Hum Genet 15:767-74. 2012..The rich longitudinal MCTFR assessments provide numerous opportunities for collaboration... - Donor polymorphisms of toll-like receptor 4 associated with graft failure in liver transplant recipientsWilliam S Oetting
College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, USA
Liver Transpl 18:1399-405. 2012..Donor polymorphisms in TLR4 could be important factors in modulating TLR4 activity and, therefore, affect the risk of graft loss. Additionally, there is a suggestion of an interaction between polymorphisms within TLR4 and the HCV status... - Multilocus association testing with penalized regressionSaonli Basu
Division of Biostatistics, School of Public Health, University of Minnesota, Minneapolis, MN 55455, USA
Genet Epidemiol 35:755-65. 2011..In addition, in penalized regression, rather than building a test based on a single selected "best" model, combining multiple tests, each of which is built on a candidate model, might be more promising... - Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinismR A King
Department of Medicine, University of Minnesota, Minneapolis 55455
Mol Biol Med 8:19-29. 1991..We conclude that analysis of the tyrosinase missense mutations will provide insight into the structure-function relationship of this enzyme... - Single-nucleotide polymorphisms, acute rejection, and severity of tubulitis in kidney transplantation, accounting for center-to-center variationAjay Israni
Department of Nephrology, Hennepin County Medical Center, University of Minnesota, Minneapolis, MN, USA
Transplantation 90:1401-8. 2010..Therefore, this study investigated single-nucleotide polymorphisms (SNPs) to identify genetic variants associated with AR, accounting for center variation, in a multicenter, prospective, observation study... - Impact of next generation sequencing: the 2009 Human Genome Variation Society Scientific MeetingWilliam S Oetting
College of Pharmacy and Institute of Human Genetics, University of Minnesota, 420 Delaware Street SE, Minneapolis, MN 55455, USA
Hum Mutat 31:500-3. 2010..With the combined efforts of investigators using next-generation sequencing to help understand the impact of genetic variants on disease, the use of the personal genome in medicine will soon become a reality... - Urinary Peptide patterns in native kidneys and kidney allograftsYan Zhang
Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN 55455, USA
Transplantation 87:1807-13. 2009..Consequently, a noninvasive test for transplanted kidney health would provide a significant advantage over current clinical practice... - X-linked high myopia associated with cone dysfunctionTerri L Young
Department of Ophthalmology, University of Minnesota Medical School, Minneapolis, USA
Arch Ophthalmol 122:897-908. 2004..We studied a second family from Minnesota with a similar X-linked phenotype, also of Danish descent. All affected males had protanopia instead of deuteranopia... - Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase geneW S Oetting
Department of Medicine, University of Minnesota, Minneapolis 55455
Hum Mutat 2:1-6. 1993..Six polymorphic sites for haplotype analysis have been identified in the tyrosinase gene including 2 in the promoter region, 2 in the coding region associated with alternative amino acids in the protein, and 2 RFLPs in the first intron... - A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2S C Wildenberg
Department of Medicine, University of Minnesota, Minneapolis 55455, USA
Am J Hum Genet 57:755-65. 1995..07 at theta = .001 was calculated for marker D10S198. Haplotype analysis places the HPS gene in a region of approximately 14 cM that contains the markers D10S198 and D10S1239... - High-order SNP combinations associated with complex diseases: efficient discovery, statistical power and functional interactionsGang Fang
Department of Computer Science, University of Minnesota, Minneapolis, Minnesota, United States of America
PLoS ONE 7:e33531. 2012..Thus, our approach is an alternative methodology for exploring the genetics of rare diseases for which the current focus is on individually rare variations... - Identification and characterization of a DNase hypersensitive region of the human tyrosinase geneJames P Fryer
Department of Medicine and Institute of Human Genetics, University of Minnesota, Minneapolis, MN 55455, USA
Pigment Cell Res 16:679-84. 2003..We believe that this region of homology contains sequences critical in the regulation of the human tyrosinase gene and is a candidate for the location of OCA1 mutations... - A dimension reduction approach for modeling multi-locus interaction in case-control studiesSaonli Basu
Division of Biostatistics, University of Minnesota, Minneapolis, USA saonli umn edu
Hum Hered 71:234-45. 2011..Our proposed approach appeared to outperform the other approaches for independent SNPs in our simulation studies... - Mendelian randomization: a novel test of the gateway hypothesis and models of gene-environment interplayDaniel E Irons
Department of Psychology, University of Minnesota, 75 East River Road, Minneapolis, MN 55455, USA
Dev Psychopathol 19:1181-95. 2007.... - Linkage analysis of a cluster-based quantitative phenotype constructed from pulmonary function test data in 27 multigenerational families with multiple asthmatic membersCavan Reilly
Division of Biostatistics, School of Public Health, University of Minnesota, Minneapolis, Minn, USA
Hum Hered 64:136-45. 2007.... - Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinismW S Oetting
Department of Medicine, University of Minnesota, Minneapolis 55455
Am J Hum Genet 49:199-206. 1991..These five different mutations disrupt tyrosinase function and are associated with a total lack of melanin biosynthesis... - Evidence that a locus for familial high myopia maps to chromosome 18pT L Young
Department of Ophthalmology, University of Minnesota, Minneapolis, MN 55455, USA
Am J Hum Genet 63:109-19. 1998..The maximum LOD score was 9.59, with marker D18S481, at a recombination fraction of .0010. Haplotype analysis further refined this myopia locus to a 7.6-cM interval between markers D18S59 and D18S1138 on 18p11.31... - A second locus for familial high myopia maps to chromosome 12qT L Young
Department of Opthalmology, Division of Epidemiology, University of Minnesota, Minneapolis, MN, USA
Am J Hum Genet 63:1419-24. 1998..1-cM interval on chromosome 12q21-23, for the second myopia gene. These results confirm genetic heterogeneity of myopia. The identification of this gene may provide insight into the pathophysiology of myopia and eye development... - Developmental trajectory and environmental moderation of the effect of ALDH2 polymorphism on alcohol useDaniel E Irons
Department of Psychology, University of Minnesota, 75 East River Road, Minneapolis, MN 55455, USA
Alcohol Clin Exp Res 36:1882-91. 2012..However, relatively few studies have considered whether the magnitude of the effect of ALDH2 polymorphism upon drinking is related to developmental stage or varies by environmental context... - New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 geneWilliam S Oetting
Department of Medicine and Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota, USA
Hum Mutat 19:85-92. 2002..Mutation and polymorphism data on this gene is available from the International Albinism Center - Albinism Database web site (http://www.cbc.umn.edu/tad)... - Power of multifactor dimensionality reduction and penalized logistic regression for detecting gene-gene interaction in a case-control studyHua He
Division of Biostatistics, School of Public Health, University of Minnesota, Minnesota, USA
BMC Med Genet 10:127. 2009..On the other hand, the Multifactor Dimensionality Reduction (MDR) is a nonparametric and genetic model-free approach to detect genotype combinations associated with disease risk... - Variations in the catechol O-methyltransferase polymorphism and prefrontally guided behaviors in adolescentsDustin Wahlstrom
Department of Psychology, Center for Neurobehavorial Development, University of Minnesota Twin Cities, Minneapolis, Minnesota 55455, USA
Biol Psychiatry 61:626-32. 2007..These genotypic variations and their associations with executive functions have been described in adults and prepubescent children, but there is a paucity of research assessing these relations in adolescent samples... - Paradoxical urinary phenytoin metabolite (S)/(R) ratios in CYP2C19*1/*2 patientsUpendra A Argikar
Department of Medicinal Chemistry, College of Pharmacy, University of Minnesota, Minneapolis, MN 55414, USA
Epilepsy Res 71:54-63. 2006..Furthermore, our study suggests that measurement of urine ratios cannot be used as a marker for genotype determination... - Large scale DNA sequencing: new challenges emerge--the 2007 Human Genome Variation Society scientific meetingWilliam S Oetting
School of Pharmacy, University of Minnesota, Minneapolis, Minnesota 55455, USA
Hum Mutat 29:765-8. 2008..For the technology to be useful in a medical setting it will be crucial to answer to these questions... - Differential genotype dependent inhibition of CYP2C9 in humansVikas Kumar
Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, USA
Drug Metab Dispos 36:1242-8. 2008..In summary, the presence of CYP2C9(*)3 alleles (either one or two alleles) can alter the degree of drug interaction observed upon coadministration of inhibitors... - Evolution of the tyrosinase related gene (TYRL) in primatesW S Oetting
Department of Medicine, University of Minnesota, Minneapolis 55455
Pigment Cell Res 6:171-7. 1993..We have also found that the gorilla but not the chimpanzee contains a TYRL locus similar to the human TYRL locus... - Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinismW S Oetting
Department of Medicine, University of Minnesota, Minneapolis 55455
Hum Genet 90:258-62. 1992..Small deletions or insertions resulting in frameshift mutations and nonsense mutations are distributed throughout the coding region and do not appear to cluster... - Diagnosis of oculocutaneous albinism with molecular analysisC G Summers
Department of Ophthalmology, University of Minnesota, USA
Am J Ophthalmol 121:724-6. 1996..To use molecular analysis to diagnose oculocutaneous albinism in a patient with an atypical clinical presentation... - Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinismW S Oetting
Department of Medicine, University of Minnesota, Minneapolis 55455, USA
Hum Mutat 13:99-115. 1999..Mutation and polymorphism data on these genes are available from the International Albinism Center Albinism Database web site (http://www.cbc.umn.edu/tad)... - Clinical genetics & human genome variation: the 2008 Human Genome Variation Society scientific meetingWilliam S Oetting
School of Pharmacy, University of Minnesota, Minneapolis, Minnesota, USA
Hum Mutat 30:852-6. 2009..These topics and others were discussed in this year's meeting... - Pharmacogenetic effect of the UGT polymorphisms on mycophenolate is modified by calcineurin inhibitorsL aurelle A Johnson
Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, MN 55455, USA
Eur J Clin Pharmacol 64:1047-56. 2008..These enzymes are highly polymorphic resulting in low activity and high expression phenotypes. We hypothesized that polymorphisms of UGT1A9 and 1A8 may alter MPA pharmacokinetics in kidney transplantation... - Molecular basis of oculocutaneous albinismW S Oetting
Department of Medicine, University of Minnesota, Minneapolis 55455
J Invest Dermatol 103:131S-136S. 1994..Further, the analysis of these genes and their mutations will provide information on the role of these gene products in melanin biosynthesis and the effect specific mutations have on the pathogenesis of albinism... - Temporal stability of the urinary proteome after kidney transplant: more sensitive than protein composition?Sanjeev K Akkina
Department of Medicine, University of Minnesota, Minneapolis, Minnesota 55455, USA
J Proteome Res 8:94-103. 2009..Longitudinal study of urinary proteins from kidney recipients may demonstrate instability as a sensitive biomarker of adverse kidney health... - Exploring the functional consequences of genomic variation: the 2010 Human Genome Variation Society Scientific MeetingWilliam S Oetting
College of Pharmacy, Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, Minneapolis 55455, USA
Hum Mutat 32:486-90. 2011..The 2010 annual meeting of the HGVS focused on methods being designed for this purpose... - Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto RicoS C Wildenberg
Department of Medicine, Institute of Human Genetics University of Minnesota, UMHC, Minneapolis, USA
J Invest Dermatol 110:777-81. 1998..These studies show that the HPS gene on chromosome 10 is complex and may have more than one biologically active transcript... - Alternative splicing of the tyrosinase gene transcript in normal human melanocytes and lymphocytesJ P Fryer
Department of Medicine, University of Minnesota Medical School, Minneapolis, Minnesota 55455, USA
J Invest Dermatol 117:1261-5. 2001.... - Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR)Philip A Chan
Vermont Cancer Center, University of Vermont, Burlington, Vermont, USA
Hum Mutat 28:683-93. 2007..The results support the clinical use of computational methods as one tool to help interpret missense variants in genes associated with human genetic disease... - A call for mutationsRichard G H Cotton
Genet Med 7:370. 2005 - Reduced recombination in maternal meiosis coupled with non-disjunction at meiosis II leading to recurrent 47,XXXOrit Reish
Genetic Institute, Assaf Harofeh Medical Center, Zerifin, Israel
Chromosome Res 12:125-32. 2004..This information may contribute to further understanding of mechanisms leading to X chromosome non-disjunction and may assist in counseling of families with this chromosomal rearrangement...
Research Grants
- CORE--GENOTYPINGWilliam Oetting; Fiscal Year: 2006..abstract_text> ..