James Sikela, PhD
Professor, Biochemistry & Molecular Genetics


  • Heft IE, Mostovoy Y, Levy-Sakin M, Ma W, Stevens AJ, Pastor S, McCaffrey J, Boffelli D, Martin DI, Xiao M, Kennedy MA, Kwok PY, Sikela JM. The Driver of Extreme Human-Specific Olduvai Repeat Expansion Remains Highly Active in the Human Genome. Genetics. 2020 Jan;214(1):179-191. PubMed PMID: 31754017
  • Issaian A, Schmitt L, Born A, Nichols PJ, Sikela J, Hansen K, Vögeli B, Henen MA. Solution NMR backbone assignment reveals interaction-free tumbling of human lineage-specific Olduvai protein domains. Biomol NMR Assign. 2019 Oct;13(2):339-343. PubMed PMID: 31264103
  • Fiddes IT, Pollen AA, Davis JM, Sikela JM. Paired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution. Hum Genet. 2019 Jul;138(7):715-721. PubMed PMID: 31087184
  • Davis JM, Heft I, Scherer SW, Sikela JM. A Third Linear Association Between Olduvai (DUF1220) Copy Number and Severity of the Classic Symptoms of Inherited Autism. Am J Psychiatry. 2019 Aug 1;176(8):643-650. PubMed PMID: 30764650
  • Sikela JM, Searles Quick VB. Genomic trade-offs: are autism and schizophrenia the steep price of the human brain?. Hum Genet. 2018 Jan;137(1):1-13. PubMed PMID: 29335774
  • Astling DP, Heft IE, Jones KL, Sikela JM. High resolution measurement of DUF1220 domain copy number from whole genome sequence data. BMC Genomics. 2017 Aug 14;18(1):614. PubMed PMID: 28807002
  • Keeney JG, O'Bleness MS, Anderson N, Davis JM, Arevalo N, Busquet N, Chick W, Rozman J, Hölter SM, Garrett L, Horsch M, Beckers J, Wurst W, Klingenspor M, Restrepo D, de Angelis MH, Sikela JM. Generation of mice lacking DUF1220 protein domains: effects on fecundity and hyperactivity. Mamm Genome. 2015 Feb;26(1-2):33-42. PubMed PMID: 25308000
  • Davis JM, Searles VB, Anderson N, Keeney J, Raznahan A, Horwood LJ, Fergusson DM, Kennedy MA, Giedd J, Sikela JM. DUF1220 copy number is linearly associated with increased cognitive function as measured by total IQ and mathematical aptitude scores. Hum Genet. 2015 Jan;134(1):67-75. PubMed PMID: 25287832
  • Keeney JG, Davis JM, Siegenthaler J, Post MD, Nielsen BS, Hopkins WD, Sikela JM. DUF1220 protein domains drive proliferation in human neural stem cells and are associated with increased cortical volume in anthropoid primates. Brain Struct Funct. 2015 Sep;220(5):3053-60. PubMed PMID: 24957859
  • Searles Quick VB, Davis JM, Olincy A, Sikela JM. DUF1220 copy number is associated with schizophrenia risk and severity: implications for understanding autism and schizophrenia as related diseases. Transl Psychiatry. 2015 Dec 15;5:e697. PubMed PMID: 26670282
  • Dumas L, Dickens CM, Anderson N, Davis J, Bennett B, Radcliffe RA, Sikela JM. Exome sequencing and arrayCGH detection of gene sequence and copy number variation between ILS and ISS mouse strains. Mamm Genome. 2014 Jun;25(5-6):235-43. PubMed PMID: 24553828
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General Information

Department: Biochemistry & Molecular Genetics
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