The Jorde laboratory is involved in two major areas of research: gene mapping and evolutionary genetics. We are analyzing variation in genes in the renin-angiotensin pathway in a series of Utah families and in a cohort of hypertensive subjects to better understand the role of these genes in hypertension susceptibility.

We are also involved in studies of the genetics of schizophrenia, polycythemia, juvenile idiopathic arthritis, and inflammatory bowel disease. Our evolutionary genetic research involves the analysis of worldwide genetic variation in human mitochondrial and nuclear DNA (including the Y chromosome).

We have been focusing especially on mobile elements, such as Alu and L1 insertion polymorphisms. We are using these data to test a variety of evolutionary hypotheses, and we are investigating the impact of mobile elements on processes such as recombination and linkage disequilibrium. We have been exploring the implications of population genetic data for current questions about the relevance of “race” in biomedical settings.

Jorde Lab Home Page


My laboratory is involved in two major areas of research: gene mapping and evolutionary genetics. Our gene mapping efforts are focused on finding genes that cause limb malformation syndromes. Currently, we are working on several of these diseases, including distal arthrogryposis, Freeman-Sheldon syndrome, Gordon syndrome, fibular hypoplasia, and ulnar-mammary syndrome. We identified mutations in a gene,TBX3, that causes ulnar-mammary syndrome. We have also demonstrated that two forms of distal arthrogryposis are caused by mutations in genes that encode two different proteins of the troponin-tropomyosin complex of fast-twitch myofibers. As our research pinpoints the responsible genes, our understanding of the etiology of these poorly understood diseases will increase, and more accurate diagnosis and prognosis will be possible. In addition, we will learn more about the biology of limb development.

Our evolutionary genetic research involves the analysis of worldwide genetic variation in human mitochondrial and nuclear DNA (including the Y chromosome). We are using these data to test a variety of evolutionary hypotheses, including the controversial proposition that modern Homo sapiens originated in Africa and then replaced human populations in other parts of the world. Although mitochondrial and nuclear polymorphisms yield somewhat discordant pictures of human evolution, our recent results show that both types of polymorphisms are consistent with an African origin of modern humans. We have also investigated genetic variation in caste and tribal populations from South India to test hypotheses about the origins and affinities of these populations.

Lab Members

Principal Investigator

Lynn Jorde, Ph.D.

Professor and Chairman




Department of Human Genetics
University of Utah
Human Genetics
15 N 2030 E RM 7200
Salt Lake City, Utah 84112-5330







Publications in PubMed

References to Publications:

MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, ….1000 Genomes Project Consortium,….Tyler-Smith C. (2012). A systematic survey of loss-of-function variants in human protein-coding genes. Science. Feb 17;335(6070):823-8. PMID: 22344438

Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, ….Huff C, Jorde LB, Goldstein DB. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. (2012) Jul 29. doi: 10.1038/ng.2358. [Epub ahead of print] PMID:22842232

Beck R, Monument MJ, Watkins WS, Smith R, Boucher KM, Schiffman JD, Jorde LB, Randall RL, Lessnick SL. (2012) EWS/FLI-responsive GGAA microsatellites exhibit polymorphic differences between European and African populations. Cancer Genet. Jun;205(6):304-12. PMID:22749036

Watkins WS, Xing J, Huff C, Witherspoon DJ, Zhang Y, Perego UA, Woodward SR, Jorde LB. (2012) Genetic analysis of ancestry, admixture and selection in Bolivian and Totonac populations of the New World. BMC Genet. May 20;13(1):39. [Epub ahead of print] PMID:22606979

Ge RL, Simonson TS, Cooksey RC, Tanna U, Qin G, Huff CD, Witherspoon DJ, Xing J, Zhengzhong B, Prchal JT, Jorde LB, McClain DA. (2012) Metabolic insight into mechanisms of high-altitude adaptation in Tibetans. Mol Genet Metab. Jun;106(2):244-7. Epub 2012 Mar 17. PMID:22503288

Jorde LB. (2012) 2011 Presidential Address: from classroom to courtroom to clinic-closing the gaps in human genetics education. Am J Hum Genet. Mar 9;90(3):387-9. No abstract available. PMID:22405082

Simonson TS, McClain DA, Jorde LB, Prchal JT. (2012) Genetic determinants of Tibetan high-altitude adaptation. Hum Genet. Apr;131(4):527-33. doi: 10.1007/s00439-011-1109-3. Epub 2011 Nov 9. Review. PMID:22068265

Huff CD, Witherspoon DJ, Zhang Y, Gatenbee C, Denson LA, Kugathasan S, Hakonarson H, Whiting A, Davis CT, Wu W, Xing J, Watkins WS, Bamshad MJ, Bradfield JP, Bulayeva K, Simonson TS, Jorde LB, Guthery SL. (2012) Crohn’s disease and genetic hitchhiking at IBD5. Mol Biol Evol. Jan;29(1):101-11. Epub 2011 Aug 4. PMID:21816865

Simonson TS, Xing J, Barrett R, Jerah E, Loa P, Zhang Y, Watkins WS, Witherspoon DJ, Huff CD, Woodward S, Mowry B, Jorde LB. (2011). Ancestry of the Iban is predominantly Southeast Asian: genetic evidence from autosomal, mitochondrial, and Y chromosomes. PLoS ONE, 6(1), e16338.

Batini C, Lopes J, Behar DM, Calafell F, Jorde LB, van der Veen L, Quintana-Murci L, Spedini G, Destro-Bisol G, Comas D. (2011). Insights into the demographic history of African Pygmies from complete mitochondrial genomes. Mol Biol Evol, 28(2), 1099-110.

Huff CD, Witherspoon DJ, Simonson TS, Xing J, Watkins WS, Zhang Y, Tuohy TM, Neklason DW, Burt RW, Guthery SL, Woodward SR, Jorde LB. (2011). Maximum-likelihood estimation of recent shared ancestry (ERSA). Genome Res. 21: 768-74

Rope AF, Wang K, Evjenth R, Xing J, Johnston JJ, Swensen JJ, Johnson WE, Moore B, Huff CD, Bird LM, Carey JC, Opitz JM, Stevens CA, Jiang T, Schank C, Fain HD, Robison R, Dalley B, Chin S, South ST, Pysher TJ, Jorde LB, Hakonarson H, Lillehaug JR, Biesecker LG, Yandell M, Arnesen T, Lyon GJ. (2011). Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency. Am J Hum Genet. 89(1):28-43.

Yandell M, Huff C, Hu H, Singleton M, Moore B, Xing J, Jorde LB, Reese MG. (2011). A probabilistic disease-gene finder for personal genomes. Genome Res. 21: 1529-42.

Marth GT, Yu F, Indap AR, Garimella K, Gravel S, Leong WF, Tyler-Smith C, Bainbridge M, Blackwell T, Zheng-Bradley X, Chen Y, Challis D, Clarke L, Ball EV, Cibulskis K, Cooper DN, Fulton B, Hartl C, Koboldt D, Muzny D, Smith R, Sougnez C, Stewart C, Ward A, Yu J, Xue Y, Altshuler D, Bustamante CD, Clark AG, Daly M, Depristo M, Flicek P, Gabriel S, Mardis E, Palotie A, Gibbs R; the 1000 Genomes Project. (2011). The functional spectrum of low-frequency coding variation. Genome Biol. Sep 14;12(9):R84 PMID:21917140

Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, ….1000 Genomes Project. (2011) Mapping copy number variation by population-scale genome sequencing. Nature. 470(7332):59-65 PMCID:PMC3077050

Hernandez RD, Kelley JL, Elyashiv E, Melton SC, Auton A, McVean G; 1000 Genomes Project, Sella G, Przeworski M. (2011). Classic selective sweeps were rare in recent human evolution. Science. Feb 18;331(6019):920-4. PMID:21330547

Gravel S, Henn BM, Gutenkunst RN, Indap AR, Marth GT, Clark AG, Yu F, Gibbs RA; 1000 Genomes Project, Bustamante CD. (2011) Demographic history and rare allele sharing among human populations. Proc Natl Acad Sci U S A. Jul 19;108(29):11983-8. Epub Jul 5 PMCID:PMC3142009

Conrad DF, Keebler JE, DePristo MA, Lindsay SJ, Zhang Y, Casals F, Idaghdour Y, Hartl CL, Torroja C, Garimella KV, Zilversmit M, Cartwright R, Rouleau GA, Daly M, Stone EA, Hurles ME, Awadalla P; 1000 Genomes Project. (2011) Variation in genome-wide mutation rates within and between human families. Nat Genet. Jun 12;43(7):712-4. PMID:21666693

Opitz JM, Jorde LB. (2011). Hamartoma syndromes, exome sequencing, and a protean puzzle. N Engl J Med. Aug 18;365(7):661-3. Epub Jul 27 PMID21793737

Stewart C, Kural D, Strömberg MP, Walker JA, Konkel MK, Stütz AM, Urban AE, Grubert F, Lam HY, Lee WP, Busby M, Indap AR, Garrison E, Huff C, Xing J, Snyder MP, Jorde LB, Batzer MA, Korbel JO, Marth GT; 1000 Genomes Project. (2011). A comprehensive map of mobile element insertion polymorphisms in humans. PLoS Genet. Aug;7(8):e1002236. Epub Aug 18. PMCID:PMC3158055

Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project*, Eichler EE. (2010) Diversity of human copy number variation and multicopy genes. Science. Oct 29;330(6004):641-6 PMCID:PMC3020103 *Member of the 1000 Genomes Consortium author list

1000 Genomes Project Consortium. (2010). A map of human genome variation from population-scale sequencing. Nature, Oct 28;467(7319):1061-73. Erratum in: Nature. 2011 May 26;473(7348):544. PMID:202981092 PMCID: PMC3042601

Xing J, Watkins WS, Hu Y, Huff CD, Sabo A, Muzny DM, Bamshad MJ, Gibbs RA, Jorde LB, Yu F. (2010). Genetic diversity in India and the inference of Eurasian population expansion. Genome Biol. 11: R113.

Witherspoon DJ, Xing J, Zhang Y, Watkins WS, Batzer MA, Jorde LB (2010). Mobile element scanning (MD-Scan) by targeted high-throughput sequencing. BMC Genomics. Jun 30;11:410.

Prahalad S, Zeft AS, Pimentel R, Clifford B, McNally B, Mineau GP, Jorde LB, Bohnsack JF. (2010). Arthritis Rheum. Aug;62(8):2525-9.

Simonson TS, Yang Y, Huff CD, Yun H, Qin G, Witherspoon DJ, Bai Z, Lorenzo FR, Xing J, Jorde LB, Prchal JT, Ge R. (2010). Genetic Evidence for High-Altitude Adaptation in Tibet. Science. 329:72-75.

Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ. (2010). Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science, 328(5978), 636-9.

Watkins WS, Rohrwasser A, Peiffer A, Leppert MF, Lalouel JM, Jorde LB. (2010). AGT Genetic Variation, Plasma AGT, and Blood Pressure: An Analysis of the Utah Genetic Reference Project Pedigrees. Am J Hypertens. (Epub ahead of print).

Simonson TS, Zhang Y, Huff CD, Xing J, Watkins WS, Witherspoon DJ, Woodward SR, Jorde LB. (2010). Limited distribution of a cardiomyopathy-associated variant in India. Ann Hum Genet, 74(2), 184-8.

Huff CD, Xing J, Rogers AR, Witherspoon D, Jorde LB. (2010). Mobile elements reveal small population size in the ancient ancestors of Homo sapiens. Proc Natl Acad Sci U S A, 107(5), 2147-52.

Watkins WS, Hunt SC, Williams GH, Tolpinrud W, Jeunemaitre X, Lalouel JM, Jorde LB. (2010). Genotype-phenotype analysis of angiotensinogen polymorphisms and essential hypertension: the importance of haplotypes. J Hypertens, 28(1), 65-75.

Lorenzo VF, Yang Y, Simonson TS, Nussenzveig R, Jorde LB, Prchal JT, Ge RL. (2009). Genetic adaptation to extreme hypoxia: study of high-altitude pulmonary edema in a three-generation Han Chinese family. Blood Cells Mol Dis, 43(3), 221-5.

Jiao X, Yang Z, Yang X, Chen Y, Tong Z, Zhao C, Zeng J, Chen H, Gibbs D, Sun X, Li B, Wakins WS, Meyer C, Wang X, Kasuga D, Bedell M, Pearson E, Weinreb RN, Leske MC, Hennis A, DeWan A, Nemesure B, Jorde LB, Hoh J, Hejtmancik JF, Zhang K. (2009). Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados. Proc Natl Acad Sci U S A, 106(40), 17105-10.

Xing J, Zhang Y, Han K, Salem AH, Sen SK, Huff CD, Zhou Q, Kirkness EF, Levy S, Batzer MA, Jorde LB. (2009). Mobile elements create structural variation: analysis of a complete human genome. Genome Res, 19(9), 1516-26.

Prahalad S, Hansen S, Whiting A, Guthery SL, Clifford B, McNally B, Zeft AS, Bohnsack JF, Jorde LB. (2009). Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis. Arthritis Rheum, 60(7), 2124-30.

Marchani EE, Xing J, Witherspoon DJ, Jorde LB, Rogers AR. (2009). Estimating the age of retrotransposon subfamilies using maximum likelihood. Genomics, 94(1), 78-82.

Xing J, Watkins WS, Witherspoon DJ, Zhang Y, Guthery SL, Thara R, Mowry BJ, Bulayeva K, Weiss RB, Jorde LB. (2009). Fine-scaled human genetic structure revealed by SNP microarrays. Genome Res, 19(5), 815-25.

Pont-Kingdon G, Bohnsack J, Sumner K, Whiting A, Clifford B, Guthery SS, Jorde LB, Lyon E, Prahalad S. (2009). Lack of association between beta 2-adrenergic receptor polymorphisms and juvenile idiopathic arthritis. Scand J Rheumatol, 38(2), 91-5.

Holliday EG, Nyholt DR, Tirupati S, John S, Ramachandran P, Ramamurti M, Ramadoss AJ, Jeyagurunathan A, Kottiswaran S, Smith HJ, Filippich C, Nertney DA, Nancarrow DJ, Hayward NK, Watkins WS, Jorde LB, Thara R, Mowry BJ. (2009). Strong evidence for a novel schizophrenia risk locus on chromosome 1p31.1 in homogeneous pedigrees from Tamil Nadu, India. Am J Psychiatry, 166(2), 206-15.

Witherspoon DJ, Watkins WS, Zhang Y, Xing J, Tolpinrud WL, Hedges DJ, Batzer MA, Jorde LB. (2009). Alu repeats increase local recombination rates. BMC Genomics, 10, 530.

Xing J, Watkins WS, Zhang Y, Witherspoon DJ, Jorde LB. (2008). High fidelity of whole-genome amplified DNA on high-density single nucleotide polymorphism arrays. Genomics, 92(6), 452-6.

Yang Z, Stratoon C, Francis PJ, Jorde LB, Zhang K. (2008). Toll-like Receptor 3 and Geographic Atrophy in Age-Related Macular Degeneration. N Engl J Med, 359, 1456-63.

Gangwal K, Sankar S, Hollenhorst PC, Kinsey M, Haroldsen SC, Shah AA, Boucher KM, Watkins WS, Jorde LB, Graves BJ, Lessnick SL. (2008). Microsatellites as EWS/FLI response elements in Ewing’s sarcoma. Proc Natl Acad Sci U S A, 105(29), 10149-54.

Prahalad S, Bohnsack JF, Whiting A, Clifford B, Jorde LB, Guthery SL, Thompson SD, Glass DN, Bamshad MJ. (2008). Lack of association of functional CTLA4 polymorphisms with juvenile idiopathic arthritis. Arthritis Rheum, 58(7), 2147-52.

Xing J, Witherspoon DJ, Watkins WS, Zhang Y, Tolpinrud W, Jorde LB. (2008). HapMap tagSNP transferability in multiple populations: general guidelines. Genomics, 92(1), 41-51.

Tong Z, Yang Z, Patel S, Chen H, Gibbs D, Yang X, Hau VS, Kaminoh Y, Harmon J, Pearson E, Buehler J, Chen Y, Yu B, Tinkham NH, Zabriskie NA, Zeng J, Luo L, Sun JK, Prakash M, Hamam RN, Tonna S, Constantine R, Ronquillo CC, Sadda S, Avery RL, Brand JM, London N, Anduze AL, King GL, Bernstein PS, Watkins S, Jorde LB, Li DY, Aiello LP, Pollak MR, Zhang K. (2008). Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications. Proc Natl Acad Sci U S A, 105(19), 6998-7003.

Eriksson AW, Fellman J, Jorde LB, Pitkanen K. (2008). Temporal, seasonal, and regional differences in births and deaths in Aland (Finland). Hum Biol, 80(2), 125-40.

Watkins WS, Thara R, Mowry BJ, Zhang Y, Witherspoon DJ, Tolpinrud W, Bamshad MJ, Tirupati S, Padmavati R, Smith H, Nancarrow D, Filippich C, Jorde LB. (2008). Genetic variation in South Indian castes: evidence from Y-chromosome, mitochondrial, and autosomal polymorphisms. BMC Genet, 9, 86.

Marchani EE, Watkins WS, Bulayeva K, Harpending HC, Jorde LB. (2008). Culture creates genetic structure in the Caucasus: autosomal, mitochondrial, and Y-chromosomal variation in Daghestan. BMC Genet, 9, 47.

Witherspoon DJ, Wooding S, Rogers AR, Marchani EE, Watkins WS, Batzer MA, Jorde LB. (2007). Genetic similarities within and between human populations. Genetics, 176(1), 351-9.

Rogers AR, Wooding S, Huff CD, Batzer MA, Jorde LB. (2007). Ancestral alleles and population origins: inferences depend on mutation rate. Mol Biol Evol, 24(4), 990-7.

Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ. (2006). Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. Am J Med Genet A, 140(22), 2387-93.

Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ. (2006). A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. Am J Hum Genet, 79(5), 935-41.

Kim UK, Wooding S, Riaz N, Jorde LB, Drayna D. (2006). Variation in the human TAS1R taste receptor genes. Chem Senses, 31(7), 599-611.

Prahalad S, Bohnsack JF, Jorde LB, Whiting A, Clifford B, Dunn D, Weiss R, Moroldo M, Thompson SD, Glass DN, Bamshad MJ. (2006). Association of two functional polymorphisms in the CCR5 gene with juvenile rheumatoid arthritis. Genes Immun, 7(6), 468-75.

Bulayeva KB, Jorde L, Watkins S, Ostler C, Pavlova TA, Bulayev OA, Tofanelli S, Paoli G, Harpending H. (2006). Ethnogenomic diversity of Caucasus, Daghestan. Am J Human Biol, 18, 610-20.

Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. (2006). Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet, 38(5), 561-5.

Wooding S, Jorde LB. (2006). Duplication and divergence in humans and chimpanzees. BioEssays, 28(4), 335-8.

Witherspoon DJ, Marchani EE, Watkins WS, Ostler CT, Wooding SP, Anders BA, Fowlkes JD, Boissinot S, Furano AV, Ray DA, Rogers AR, Batzer MA, Jorde LB. (2006). Human population genetic structure and diversity inferred from polymorphic L1(LINE-1) and Alu insertions. Hum Hered, 62(1), 30-46.

Jorde LB. (2005). Evolution. Where we’re hot, they’re not. Science, 308(5718), 60-2.