Lynn Jorde

Summary

Affiliation: University of Utah
Country: USA

Publications

  1. pmc Effect of interleukin-6 polymorphism on risk of preterm birth within population strata: a meta-analysis
    Wilfred Wu
    Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA
    BMC Genet 14:30. 2013
  2. pmc Genetic analysis of ancestry, admixture and selection in Bolivian and Totonac populations of the New World
    W Scott Watkins
    Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, 15 N 2030 E RM 2100, Salt Lake City, UT 84112, USA
    BMC Genet 13:39. 2012
  3. pmc Genetic diversity in India and the inference of Eurasian population expansion
    Jinchuan Xing
    Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, 15 North 2030 East, Salt Lake City, UT 84112, USA
    Genome Biol 11:R113. 2010
  4. pmc Mobile element scanning (ME-Scan) by targeted high-throughput sequencing
    David J Witherspoon
    Dept of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84112, USA
    BMC Genomics 11:410. 2010
  5. pmc Alu repeats increase local recombination rates
    David J Witherspoon
    Dept of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84112, USA
    BMC Genomics 10:530. 2009
  6. pmc Culture creates genetic structure in the Caucasus: autosomal, mitochondrial, and Y-chromosomal variation in Daghestan
    Elizabeth E Marchani
    Department of Anthropology, University of Utah, Salt Lake City, UT 84112, USA
    BMC Genet 9:47. 2008
  7. pmc Genetic variation in South Indian castes: evidence from Y-chromosome, mitochondrial, and autosomal polymorphisms
    W S Watkins
    Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA
    BMC Genet 9:86. 2008
  8. ncbi request reprint Genetic variation, classification and 'race'
    Lynn B Jorde
    Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA
    Nat Genet 36:S28-33. 2004
  9. ncbi request reprint Population genomics: a bridge from evolutionary history to genetic medicine
    L B Jorde
    Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA
    Hum Mol Genet 10:2199-207. 2001
  10. ncbi request reprint Evolution. Where we're hot, they're not
    Lynn B Jorde
    Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA
    Science 308:60-2. 2005

Research Grants

  1. POPULATION GENETICS OF MOBILE ELEMENTS
    Lynn Jorde; Fiscal Year: 2007
  2. The Angiotensinogen Gene and Human Hypertension
    Lynn Jorde; Fiscal Year: 2006
  3. POPULATION GENETICS OF MOBILE ELEMENTS
    Lynn Jorde; Fiscal Year: 2003
  4. The Angiotensinogen Gene and Human Hypertension
    Lynn Jorde; Fiscal Year: 2003
  5. POPULATION GENETICS OF MOBILE ELEMENTS
    Lynn Jorde; Fiscal Year: 2010

Detail Information

Publications70

  1. pmc Effect of interleukin-6 polymorphism on risk of preterm birth within population strata: a meta-analysis
    Wilfred Wu
    Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA
    BMC Genet 14:30. 2013
    ....
  2. pmc Genetic analysis of ancestry, admixture and selection in Bolivian and Totonac populations of the New World
    W Scott Watkins
    Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, 15 N 2030 E RM 2100, Salt Lake City, UT 84112, USA
    BMC Genet 13:39. 2012
    ....
  3. pmc Genetic diversity in India and the inference of Eurasian population expansion
    Jinchuan Xing
    Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, 15 North 2030 East, Salt Lake City, UT 84112, USA
    Genome Biol 11:R113. 2010
    ..Despite recent large-scale efforts in discovering human genetic variation, India's vast reservoir of genetic diversity remains largely unexplored...
  4. pmc Mobile element scanning (ME-Scan) by targeted high-throughput sequencing
    David J Witherspoon
    Dept of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84112, USA
    BMC Genomics 11:410. 2010
    ....
  5. pmc Alu repeats increase local recombination rates
    David J Witherspoon
    Dept of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84112, USA
    BMC Genomics 10:530. 2009
    ....
  6. pmc Culture creates genetic structure in the Caucasus: autosomal, mitochondrial, and Y-chromosomal variation in Daghestan
    Elizabeth E Marchani
    Department of Anthropology, University of Utah, Salt Lake City, UT 84112, USA
    BMC Genet 9:47. 2008
    ....
  7. pmc Genetic variation in South Indian castes: evidence from Y-chromosome, mitochondrial, and autosomal polymorphisms
    W S Watkins
    Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA
    BMC Genet 9:86. 2008
    ..An understanding of these influences is increasingly important as gene mapping and case-control studies are initiated in South Indian populations...
  8. ncbi request reprint Genetic variation, classification and 'race'
    Lynn B Jorde
    Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA
    Nat Genet 36:S28-33. 2004
    ..Therefore, ancestry, or even race, may in some cases prove useful in the biomedical setting, but direct assessment of disease-related genetic variation will ultimately yield more accurate and beneficial information...
  9. ncbi request reprint Population genomics: a bridge from evolutionary history to genetic medicine
    L B Jorde
    Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA
    Hum Mol Genet 10:2199-207. 2001
    ..We review some of the general patterns of human genetic variation, and we show how our knowledge of these patterns can aid in the mapping and cloning of disease-causing genes...
  10. ncbi request reprint Evolution. Where we're hot, they're not
    Lynn B Jorde
    Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA
    Science 308:60-2. 2005
  11. ncbi request reprint Linkage disequilibrium and the search for complex disease genes
    L B Jorde
    Eccles Institute of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84112, USA
    Genome Res 10:1435-44. 2000
  12. pmc The distribution of human genetic diversity: a comparison of mitochondrial, autosomal, and Y-chromosome data
    L B Jorde
    Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, UT, 84112, USA
    Am J Hum Genet 66:979-88. 2000
    ..These results are reassuring in their consistency and offer broad support for an African origin of modern human populations...
  13. pmc DNA sequence variation in a 3.7-kb noncoding sequence 5' of the CYP1A2 gene: implications for human population history and natural selection
    S P Wooding
    Department of Human Genetics, University of Utah, Salt Lake City, UT, 84112, USA
    Am J Hum Genet 71:528-42. 2002
    ..90) frequencies in human populations, a trend consistent with the action of positive natural selection. These patterns have a number of implications for disease-association studies in CYP1A2 and other genes...
  14. ncbi request reprint Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome
    M Bamshad
    Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City 84112, USA
    Nat Genet 16:311-5. 1997
    ..We suggest that during the evolution of TBX3 and TBX5 from a common ancestral gene, each has acquired specific yet complementary roles in patterning the mammalian upper limb...
  15. pmc Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19
    J R O'Quinn
    Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA
    Am J Hum Genet 62:130-5. 1998
    ..The identification of both the gene causing EEC and its mutation may further elucidate the general signals mediating inductive mechanisms...
  16. ncbi request reprint Human population genetic structure and diversity inferred from polymorphic L1(LINE-1) and Alu insertions
    D J Witherspoon
    Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, UT 84112 5330, USA
    Hum Hered 62:30-46. 2006
    ..L1 elements drive replication of Alu elements, and both have had far-reaching impacts on the human genome. We use L1 and Alu insertion polymorphisms to analyze human population structure...
  17. pmc Genetic traces of ancient demography
    H C Harpending
    Department of Anthropology, University of Utah, Salt Lake City, UT 84112, USA
    Proc Natl Acad Sci U S A 95:1961-7. 1998
    ..This genetic evidence denies any version of the multiregional model of modern human origins. It implies instead that our ancestors were effectively a separate species for most of the Pleistocene...
  18. pmc Genetic similarities within and between human populations
    D J Witherspoon
    Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84112, USA
    Genetics 176:351-9. 2007
    ..This provides empirical justification for caution when using population labels in biomedical settings, with broad implications for personalized medicine, pharmacogenetics, and the meaning of race...
  19. pmc Association of two functional polymorphisms in the CCR5 gene with juvenile rheumatoid arthritis
    S Prahalad
    Division of Immunology and Rheumatology, Department of Pediatrics, University of Utah, Salt Lake City, UT 84132 2206, USA
    Genes Immun 7:468-75. 2006
    ..05). Both variants are in regions under natural selection, and result in functional consequences. Our results suggest these CCR5 variants are protective against early-onset JRA...
  20. ncbi request reprint Diversity and divergence among the tribal populations of India
    W S Watkins
    Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA
    Ann Hum Genet 69:680-92. 2005
    ....
  21. ncbi request reprint Consanguinity and prereproductive mortality in the Utah Mormon population
    L B Jorde
    Eccles Institute of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84112, USA
    Hum Hered 52:61-5. 2001
    ..Preliminary evidence is offered for the hypothesis that mortality differentials are larger in populations with low inbreeding and low mortality because nongenetic causes of death do not obscure the effects of consanguinity...
  22. pmc Ascertainment bias in estimates of average heterozygosity
    A R Rogers
    Department of Anthropology, University of Utah, Salt Lake City, Utah 84112, USA
    Am J Hum Genet 58:1033-41. 1996
    ..As this argument predicts, European estimates exceed those of Africa and Asia at systems with large bias. The magnitude of this European excess is consistent with the version of our model in which mutation rates vary across loci...
  23. ncbi request reprint Mitochondrial mismatch analysis is insensitive to the mutational process
    A R Rogers
    Department of Anthropology, University of Utah, Salt Lake City 84112, USA
    Mol Biol Evol 13:895-902. 1996
    ..01. In addition, we evaluate and reject the proposition that mismatch waves are produced by pooling data from several subdivisions of a structured population...
  24. pmc A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter
    P A Krakowiak
    Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84112, USA
    Am J Hum Genet 60:426-32. 1997
    ..5-6.5-cM region between the marker TH and the telomere. Analysis of additional families improves the LOD score to 6.45 at theta = 0 and suggests linkage homogeneity for DA2B...
  25. pmc Microsatellite diversity and the demographic history of modern humans
    L B Jorde
    Eccles Institute of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84112, USA
    Proc Natl Acad Sci U S A 94:3100-3. 1997
    ..A comparison of continental diversity differences in microsatellites and mtDNA sequences suggests earlier demographic expansion of the ancestors of Africans...
  26. pmc Haplotype analysis of hemochromatosis: evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes
    R S Ajioka
    Division of Hematology Oncology, Eccles Institute of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84132, USA
    Am J Hum Genet 60:1439-47. 1997
    ..Our data provide a reasonable explanation for previous difficulties in localizing the hh locus and provide an evolutionary history for disease chromosomes...
  27. ncbi request reprint Multiple origins of the mtDNA 9-bp deletion in populations of South India
    W S Watkins
    Department of Human Genetics, University of Utah, Salt Lake City 84112 0533, USA
    Am J Phys Anthropol 109:147-58. 1999
    ..These results demonstrate varying genetic affinities of different South Indian tribes to continental populations and underscore the complex histories of the tribal populations living in South Asia...
  28. pmc Genetic evidence on the origins of Indian caste populations
    M Bamshad
    Department of Pediatrics, University of Utah, Salt Lake City, Utah 84112, USA
    Genome Res 11:994-1004. 2001
    ..We conclude that Indian castes are most likely to be of proto-Asian origin with West Eurasian admixture resulting in rank-related and sex-specific differences in the genetic affinities of castes to Asians and Europeans...
  29. pmc The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome
    M Bamshad
    Department of Pediatrics, Eccles Institute of Human Genetics, 15 North 2030 East, Room 2100, University of Utah, Salt Lake City, UT 84112 5330, USA
    Am J Hum Genet 64:1550-62. 1999
    ..We found no obvious phenotypic differences between those who have missense mutations and those who have deletions or frameshifts...
  30. pmc Lack of association between beta 2-adrenergic receptor polymorphisms and juvenile idiopathic arthritis
    G Pont-Kingdon
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA
    Scand J Rheumatol 38:91-5. 2009
    ..Associations between variants in the gene encoding the beta 2-adrenergic receptor (ADRB2) and autoimmune disorders such as rheumatoid arthritis (RA) have been demonstrated. We aimed to investigate ADRB2 variants for association with JIA...
  31. pmc Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping
    L B Jorde
    Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84112
    Am J Hum Genet 53:1038-50. 1993
    ..These are discussed, and guidelines for linkage disequilibrium studies are suggested...
  32. pmc Lack of association of functional CTLA4 polymorphisms with juvenile idiopathic arthritis
    Sampath Prahalad
    Division of Immunology and Rheumatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84158 1289, USA
    Arthritis Rheum 58:2147-52. 2008
    ..Single-nucleotide polymorphisms (SNPs) in CTLA4 have been implicated in susceptibility to several autoimmune disorders, including JIA. This study was undertaken to test 3 functional CTLA4 variants for association with JIA...
  33. pmc Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation
    Mark D Shriver
    Penn State University, University Park, Pennsylvania, USA
    Hum Genomics 2:81-9. 2005
    ....
  34. ncbi request reprint Worldwide haplotype diversity and coding sequence variation at human bitter taste receptor loci
    Unkyung Kim
    Department of Biology, Kyungpook National University, Daegu, Republic of Korea
    Hum Mutat 26:199-204. 2005
    ....
  35. ncbi request reprint Balinese Y-chromosome perspective on the peopling of Indonesia: genetic contributions from pre-neolithic hunter-gatherers, Austronesian farmers, and Indian traders
    Tatiana M Karafet
    Division of Biotechnology, Biosciences West, University of Arizona, Tucson, AZ 85721, USA
    Hum Biol 77:93-114. 2005
    ..These results indicate that the Austronesian expansion had a profound effect on the composition of the Balinese paternal gene pool and that cultural transmission from India to Bali was accompanied by substantial levels of gene flow...
  36. pmc Modeling the amplification dynamics of human Alu retrotransposons
    Dale J Hedges
    Department of Biological Sciences, Biological Computation and Visualization Center, Center for Bio Modular Microsystems, Louisiana State University, Baton Rouge, Louisiana, United States of America
    PLoS Comput Biol 1:e44. 2005
    ....
  37. ncbi request reprint Ancestral alleles and population origins: inferences depend on mutation rate
    Alan R Rogers
    Department of Anthropology, University of Utah, USA
    Mol Biol Evol 24:990-7. 2007
    ..This is true of one data set, but not of 2 others. This also suggests the action of some factor, such as selection or ascertainment bias, that varies among data sets...
  38. pmc HapMap tagSNP transferability in multiple populations: general guidelines
    Jinchuan Xing
    Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA
    Genomics 92:41-51. 2008
    ..In addition to our findings, we reviewed over 25 recent studies of tagSNP transferability and propose a general guideline for selecting tagSNPs from HapMap populations...
  39. ncbi request reprint Variation in the human TAS1R taste receptor genes
    Un Kyung Kim
    National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA
    Chem Senses 31:599-611. 2006
    ....
  40. pmc Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications
    Zongzhong Tong
    Department of Ophthalmology and Visual Sciences, Eccles Institute of Human Genetics
    Proc Natl Acad Sci U S A 105:6998-7003. 2008
    ..These results suggest that rs1617640 in the EPO promoter is significantly associated with PDR and ESRD. This study identifies a disease risk-associated gene and potential pathway mediating severe diabetic microvascular complications...
  41. pmc Genome-wide analysis of the human Alu Yb-lineage
    Anthony B Carter
    Department of Biological Sciences, Biological Computation and Visualization Center, Louisiana State University, 202 Life Sciences Building, Baton Rouge, LA 70803, USA
    Hum Genomics 1:167-78. 2004
    ..The high copy number, level of insertion polymorphism and estimated age indicate that members of the Alu Yb elements will be useful in a wide range of genetic analyses...
  42. ncbi request reprint Recently integrated Alu elements and human genomic diversity
    Abdel Halim Salem
    Department of Biological Sciences, Biological Computation and Visualization Center, Louisiana State University, USA
    Mol Biol Evol 20:1349-61. 2003
    ..This type of Alu retroposition-mediated genomic deletion is a novel source of lineage-specific evolution within primate genomes...
  43. pmc A method for detecting recent selection in the human genome from allele age estimates
    Christopher Toomajian
    Committee on Genetics, University of Chicago, Chicago, Illinois 60637, USA
    Genetics 165:287-97. 2003
    ..This method will be useful for scanning the human genome for alleles under selection using the haplotype map now being constructed...
  44. pmc Genetic variation among world populations: inferences from 100 Alu insertion polymorphisms
    W Scott Watkins
    Department of Human Genetics, University of Utah, Salt Lake City, Utah 84112, USA
    Genome Res 13:1607-18. 2003
    ..These analyses also demonstrate that markers with higher F(ST) values have greater resolving power and produce more consistent genetic distance estimates...
  45. pmc Larger genetic differences within africans than between Africans and Eurasians
    Ning Yu
    Department of Ecology and Evolution, University of Chicago, Chicago, Illinois 60637, USA
    Genetics 161:269-74. 2002
    ..Clearly, one must specify the geographic origins of the individuals sampled when studying pi or SNP density...
  46. pmc A comprehensive analysis of recently integrated human Ta L1 elements
    Jeremy S Myers
    Department of Biological Sciences, Biological Computation and Visualization Center, Louisiana State University, 202 Life Sciences Building, Baton Rouge, LA 70803, USA
    Am J Hum Genet 71:312-26. 2002
    ..One hundred fifteen (45%) of the Ta L1 elements were polymorphic with respect to insertion presence or absence and will serve as identical-by-descent markers for the study of human evolution...
  47. ncbi request reprint Following the LINEs: an analysis of primate genomic variation at human-specific LINE-1 insertion sites
    Bethaney J Vincent
    Department of Biological Sciences, Biological Computation and Visualization Center, Louisiana State University, USA
    Mol Biol Evol 20:1338-48. 2003
    ..Therefore, L1 insertion polymorphisms appear to be essentially homoplasy free characters well suited for the study of population genetics and phylogenetic relationships within closely related species...
  48. pmc A strong signature of balancing selection in the 5' cis-regulatory region of CCR5
    Michael J Bamshad
    Department of Pediatrics, University of Utah, Salt Lake City, UT 84112, USA
    Proc Natl Acad Sci U S A 99:10539-44. 2002
    ....
  49. ncbi request reprint Affinities among Melanesians, Micronesians, and Polynesians: a neutral biparental genetic perspective
    J Koji Lum
    Department of International Affairs and Tropical Medicine, Tokyo Women s Medical University, Japan
    Hum Biol 74:413-30. 2002
    ..Overall, geographic proximity is a better predictor of biparental genetic relationships than linguistic affinities...
  50. ncbi request reprint LINE-1 preTa elements in the human genome
    Abdel Halim Salem
    Department of Biological Sciences, Biological Computation and Visualization Center, Louisiana State University, 202 Life Sciences Building, Baton Rouge, LA 70803, USA
    J Mol Biol 326:1127-46. 2003
    ..In all, 29 have two intact open reading frames and may be capable of retrotransposition...
  51. pmc Alu elements and hominid phylogenetics
    Abdel Halim Salem
    Department of Biological Sciences, Biological Computation and Visualization Center, Louisiana State University, 202 Life Sciences Building, Baton Rouge, LA 70803, USA
    Proc Natl Acad Sci U S A 100:12787-91. 2003
    ..Here we present the strongest evidence reported to date for a sister relationship between humans and chimpanzees while clearly distinguishing the chimpanzee and human lineages...
  52. ncbi request reprint Comprehensive analysis of Alu-associated diversity on the human sex chromosomes
    Pauline A Callinan
    Department of Biological Sciences, Biological Computation and Visualization Center, Louisiana State University, 202 Life Sciences Building, Baton Rouge, LA 70803, USA
    Gene 317:103-10. 2003
    ..The Alu insertion polymorphisms identified in this study should prove useful for the study of human population genetics...
  53. pmc Nucleotide diversity and haplotype structure of the human angiotensinogen gene in two populations
    Toshiaki Nakajima
    Division of Genetic Diagnosis, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan
    Am J Hum Genet 70:108-23. 2002
    ..These results have important implications for the usefulness of LD approaches in the mapping of genes underlying susceptibility to complex diseases...
  54. ncbi request reprint Directional migration in the Hindu castes: inferences from mitochondrial, autosomal and Y-chromosomal data
    Stephen Wooding
    Department of Human Genetics, University of Utah, 15 North 2030 East, Salt Lake City, UT 84112 5330, USA
    Hum Genet 115:221-9. 2004
    ..Our findings support earlier evidence that the caste system has been a significant, long-term source of population structuring in South Indian Hindu populations, and that patterns of migration differ between males and females...
  55. pmc Natural selection and population history in the human angiotensinogen gene (AGT): 736 complete AGT sequences in chromosomes from around the world
    Toshiaki Nakajima
    Division of Genetic Diagnosis, The University of Tokyo, Tokyo 108 8639, Japan
    Am J Hum Genet 74:898-916. 2004
    ..Taken together, patterns of genetic diversity in AGT suggest that natural selection has generally favored the G(-6) variant over the A(-6) variant in non-African populations. However, important localized effects may also be present...
  56. ncbi request reprint Genetics and population history of Caucasus populations
    Kazima Bulayeva
    Daghestan Branch, Russian Academy of Sciences, Makhachkala, Daghestan, Russia
    Hum Biol 75:837-53. 2003
    ..The two approaches agree reasonably well if we assume that there was demographic growth in Africa before the diaspora of ancestors of contemporary regional human groups outside Africa...
  57. ncbi request reprint Comprehensive analysis of two Alu Yd subfamilies
    Jinchuan Xing
    Department of Biological Sciences, Biological Computation and Visualization Center, Louisiana State University, 202 Life Sciences Building, Baton Rouge, LA 70803, USA
    J Mol Evol 57:S76-89. 2003
    ..These Alu subfamilies are a source of genomic fossil relics for the study of primate phylogenetics and human population genetics...
  58. pmc Natural selection and molecular evolution in PTC, a bitter-taste receptor gene
    Stephen Wooding
    Department of Human Genetics, University of Utah, Salt Lake City 84112 5330, USA
    Am J Hum Genet 74:637-46. 2004
    ..01). These results combine to suggest that balancing natural selection has acted to maintain "taster" and "nontaster" alleles at the PTC locus in humans...
  59. ncbi request reprint Gene flow from the Indian subcontinent to Australia: evidence from the Y chromosome
    Alan J Redd
    Division of Biotechnology, University of Arizona, Tucson, AZ 85721, USA
    Curr Biol 12:673-7. 2002
    ..These results provide strong evidence for an influx of Y chromosomes from the Indian subcontinent to Australia that may have occurred during the Holocene...
  60. ncbi request reprint Length polymorphism of thymidylate synthase regulatory region in Chinese populations and evolution of the novel alleles
    Huai Rong Luo
    Laboratory of Molecular Evolution and Genome Diversity, Kunming Institute of Zoology, Chinese Academy of Sciences, People s Republic of China
    Biochem Genet 40:41-51. 2002
    ..On the basis of the sequences of the different alleles, the existence of the tandem repeats in each allele might be explained by slipped-strand mispairing during DNA replication...
  61. pmc Human population genetic structure and inference of group membership
    Michael J Bamshad
    Department of Pediatrics, University of Utah, Salt Lake City, Utah 84112, USA
    Am J Hum Genet 72:578-89. 2003
    ..This suggests that a more flexible framework is needed for making inferences about population structure and the utility of proxies...
  62. pmc Microsatellites as EWS/FLI response elements in Ewing's sarcoma
    Kunal Gangwal
    Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA
    Proc Natl Acad Sci U S A 105:10149-54. 2008
    ..These findings illustrate an unprecedented route to specificity for ETS proteins and use of microsatellites in tumorigenesis...
  63. pmc Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes
    Sandy S Sung
    Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA
    Am J Hum Genet 72:681-90. 2003
    ..This provides a new opportunity to directly study the etiology and pathogenesis of multiple-congenital-contracture syndromes...
  64. ncbi request reprint Mobile DNA elements in primate and human evolution
    Jinchuan Xing
    Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA
    Am J Phys Anthropol . 2007
    ..Finally, these elements have had impacts on the genome itself. We review how they have influenced fundamental ongoing processes like nonhomologous recombination, genomic deletion, and X chromosome inactivation...
  65. pmc Contrasting effects of natural selection on human and chimpanzee CC chemokine receptor 5
    Stephen Wooding
    Department of Human Genetics, University of Utah, Salt Lake City UT, USA
    Am J Hum Genet 76:291-301. 2005
    ..This result suggests that chimpanzee 5'CCR5 might harbor or be linked to functional variants that influence chimpanzee resistance to disease caused by SIVcpz/HIV-1...
  66. ncbi request reprint Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8
    Reha M Toydemir
    Department of Human Genetics, University of Utah, Salt Lake City, UT, USA
    Am J Med Genet A 140:2387-93. 2006
    ..Our findings show that distal arthrogryposis syndromes share a similar pathogenesis and are, in general, caused by disruption of the contractile complex of muscle...
  67. ncbi request reprint Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome
    Reha M Toydemir
    Department of Human Genetics, University of Utah, Salt Lake City, Utah, USA
    Nat Genet 38:561-5. 2006
    ..Elucidation of the genetic basis of these syndromes redefines congenital contractures as unique defects of the sarcomere and provides insights about what has heretofore been a poorly understood group of disorders...
  68. ncbi request reprint Duplication and divergence in humans and chimpanzees
    Stephen Wooding
    Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, 84112, USA
    Bioessays 28:335-8. 2006
    ..4) Further, such changes have been implicated in a number of genetic disorders, such as DiGeorge, Angelman/Prader-Willi and Charcot-Marie-Tooth syndromes.(5)..
  69. ncbi request reprint Genetic variation and cardiovascular care
    Lynn B Jorde
    Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, USA
    Manag Care 13:9-12. 2004
  70. pmc A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
    Reha M Toydemir
    Department of Human Genetics, University of Utah, Salt Lake City, UT, USA
    Am J Hum Genet 79:935-41. 2006
    ..R621H substitution in the tyrosine kinase domain and partial loss of FGFR3 function. These findings indicate that abnormal FGFR3 signaling can cause human anomalies by promoting as well as inhibiting endochondral bone growth...

Research Grants14

  1. POPULATION GENETICS OF MOBILE ELEMENTS
    Lynn Jorde; Fiscal Year: 2007
    ..Our understanding of genetic disease will also be enhanced by a better understanding of the role of these elements in DNA repair and in gene duplication and deletion. ..
  2. The Angiotensinogen Gene and Human Hypertension
    Lynn Jorde; Fiscal Year: 2006
    ..In summary, our extensive analysis of AGT variation in more than 1,600 subjects will clarify the role of this gene in essential hypertension and will test specific hypotheses about the evolution of AGT. ..
  3. POPULATION GENETICS OF MOBILE ELEMENTS
    Lynn Jorde; Fiscal Year: 2003
    ..These project will contribute to our understanding of human genetic evolution and the ways in which it influences the genetic variability that underlies complex human diseases. ..
  4. The Angiotensinogen Gene and Human Hypertension
    Lynn Jorde; Fiscal Year: 2003
    ..In summary, our extensive analysis of AGT variation in more than 1,600 subjects will clarify the role of this gene in essential hypertension and will test specific hypotheses about the evolution of AGT. ..
  5. POPULATION GENETICS OF MOBILE ELEMENTS
    Lynn Jorde; Fiscal Year: 2010
    ....