Human Genetics

The Department of Human Genetics is dedicated to basic scientific research in human genetics and genetic disease, as well as the training of the next generation of scientists and health care providers.  

Our faculty explore three broad areas of human genetics: molecular genetics, genetic disease, and statistical/population genetics. Within molecular genetics, research groups study DNA repair and recombination, genome instability, gene function and regulation, epigenetics, RNA modification and control, and genomic systems. Research in human genetic disease emphasizes the genetics of development, neurogenetics, stem cell biology, medical genetics, reproductive sciences, and the genetics of cancer. Evolutionary and population genetics research includes statistical tools for genetics, genetic epidemiology, and genetic mapping of complex traits and diseases.  

We invite you to explore our faculty, students, graduate programs, courses, and events/seminars.  

Featured Publications  

Moldovan JB, Wang Y, Shuman S, Mills RE, Moran JV. RNA ligation precedes the retrotransposition of U6/LINE-1 chimeric RNA. Proc Natl Acad Sci U S A. 2019 Sep 23. pii: 201805404. doi: 10.1073/pnas.1805404116. [Epub ahead of print] PubMed PMID: 31548405.

Watts JA, Burdick J, Daigneault J, Zhu Z, Grunseich C, Bruzel A, Cheung VG. cis Elements that Mediate RNA Polymerase II Pausing Regulate Human Gene Expression. Am J Hum Genet. 2019 Aug 26. pii: S0002-9297(19)30306-4. doi:10.1016/j.ajhg.2019.08.003. [Epub ahead of print] PubMed PMID: 31495490.

Miyoshi T, Makino T, Moran JV. Poly(ADP-Ribose) Polymerase 2 Recruits Replication Protein A to Sites of LINE-1 Integration to Facilitate Retrotransposition. Mol Cell. 2019 Sep 19;75(6):1286-1298.e12. doi: 10.1016/j.molcel.2019.07.018. Epub 2019 Aug 28. PubMed PMID: 31473101; PubMed Central PMCID: PMC6754305.

Emmer BT, Ginsburg D. Genome Editing and Hematologic Malignancy. Annu Rev Med. 2019 Aug 30. doi: 10.1146/annurev-med-052318-100741. [Epub ahead of print] PubMed PMID: 31469969.

Mazzola SE, O'Connor B, Yashar BM. Primary care physicians' understanding and utilization of pediatric exome sequencing results. J Genet Couns. 2019 Aug 30. doi: 10.1002/jgc4.1163. [Epub ahead of print] PubMed PMID: 31469212.

Carethers JM. Fecal DNA Testing for Colorectal Cancer Screening. Annu Rev Med. 2019 Aug 26. doi: 10.1146/annurev-med-103018-123125. [Epub ahead of print] PubMed PMID: 31451044.

Omenn GS, Lane L, Overall CM, Corrales FJ, Schwenk JM, Paik YK, Van Eyk JE, Liu S, Pennington S, Snyder MP, Baker MS, Deutsch EW. Progress on Identifying and Characterizing the Human Proteome: 2019 Metrics from the HUPO Human Proteome Project. J Proteome Res. 2019 Sep 13. doi: 10.1021/acs.jproteome.9b00434. [Epub ahead of print] PubMed PMID: 31430157.

Innis JW. Hand-Foot-Genital Syndrome. 2006 Jul 11 [updated 2019 Aug 8]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from http://www.ncbi.nlm.nih.gov/books/NBK1423/ PubMed PMID: 20301596.

Nishizaki SS, Ng N, Dong S, Porter RS, Morterud C, Williams C, Asman C, Switzenberg JA, Boyle AP. Predicting the effects of SNPs on transcription factor binding affinity. Bioinformatics. 2019 Aug 2. pii: btz612. doi: 10.1093/bioinformatics/btz612. [Epub ahead of print] PubMed PMID: 31373606.

Dong S, Boyle AP. Predicting functional variants in enhancer and promoter elements using RegulomeDB. Hum Mutat. 2019 Sep;40(9):1292-1298. doi: 10.1002/humu.23791. Epub 2019 Jun 22. PubMed PMID: 31228310; PubMed Central PMCID: PMC6744346.

Khoriaty R, Ozel AB, Ramdas S, Ross C, Desch K, Shavit JA, Everett L, Siemieniak D, Li JZ, Ginsburg D. Genome-wide linkage analysis and whole-exome sequencing identifies an ITGA2B mutation in a family with thrombocytopenia. Br J Haematol. 2019 Aug;186(4):574-579. doi: 10.1111/bjh.15961. Epub 2019 May 23. PubMed PMID: 31119735; PubMed Central PMCID: PMC6679728.

Wilson TE, Sunder S. Double-strand breaks in motion: implications for chromosomal rearrangement. Curr Genet. 2019 Jul 18. doi: 10.1007/s00294-019-01015-4. [Epub ahead of print] Review. PubMed PMID: 31321486.

Jacher JE, Roy N, Ghaziuddin M, Innis JW. Expanding the phenotypic spectrum of MBOAT7-related intellectual disability. Am J Med Genet B Neuropsychiatr Genet. 2019 Jul 8. doi: 10.1002/ajmg.b.32749. [Epub ahead of print] PubMed PMID: 31282596.

Lenk GM, Park YN, Lemons R, Flynn E, Plank M, Frei CM, Davis MJ, Gregorka B, Swanson JA, Meisler MH, Kitzman JO. CRISPR knockout screen implicates three genes in lysosome function. Sci Rep. 2019 Jul 3;9(1):9609. doi: 10.1038/s41598-019-45939-w. PubMed PMID: 31270356; PubMed Central PMCID: PMC6610096. 

Sunder S, Wilson TE. Frequency of DNA end joining in trans is not determined by the predamage spatial proximity of double-strand breaks in yeast. Proc Natl Acad Sci U S A. 2019 Apr 24. pii: 201818595. doi: 10.1073/pnas.1818595116. [Epub ahead of print] PubMed PMID: 31019070. 

Ramdas S, Ozel AB, Treutelaar MK, Holl K, Mandel M, Woods LCS, Li JZ. Extended regions of suspected mis-assembly in the rat reference genome. Sci Data. 2019 Apr 23;6(1):39. doi: 10.1038/s41597-019-0041-6. PubMed PMID: 31015470; PubMed Central PMCID: PMC6478900. 

Graham SE, Nielsen JB, Zawistowski M, Zhou W, Fritsche LG, Gabrielsen ME, Skogholt AH, Surakka I, Hornsby WE, Fermin D, Larach DB, Kheterpal S, Brummett CM, Lee S, Kang HM, Abecasis GR, Romundstad S, Hallan S, Sampson MG, Hveem K, Willer CJ. Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. Nat Commun. 2019 Apr 23;10(1):1847. doi: 10.1038/s41467-019-09861-z. PubMed PMID: 31015462; PubMed Central PMCID: PMC6478837. 

Flasch DA, Macia Á, Sánchez L, Ljungman M, Heras SR, García-Pérez JL, Wilson TE, Moran JV. Genome-wide de novo L1 Retrotransposition Connects Endonuclease Activity with Replication. Cell. 2019 May 2;177(4):837-851.e28. doi: 10.1016/j.cell.2019.02.050. Epub 2019 Apr 4. PubMed PMID: 30955886. 

Harris C, Cloutier M, Trotter M, Hinten M, Gayen S, Du Z, Xie W, Kalantry S. Conversion of random X-inactivation to imprinted X-inactivation by maternal PRC2. Elife. 2019 Apr 2;8. pii: e44258. doi: 10.7554/eLife.44258. [Epub ahead of print] PubMed PMID: 30938678. 

Caglayan AO, Gumus H, Sandford E, Kubisiak TL, Ma Q, Ozel AB, Per H, Li JZ, Shakkottai VG, Burmeister M. COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration. Cerebellum. 2019 Mar 8. doi: 10.1007/s12311-019-01011-x. [Epub ahead of print] PubMed PMID: 30847826. 

Kuo ME, Theil AF, Kievit A, Malicdan MC, Introne WJ, Christian T, Verheijen FW, Smith DEC, Mendes MI, Hussaarts-Odijk L, van der Meijden E, van Slegtenhorst M, Wilke M, Vermeulen W, Raams A, Groden C, Shimada S, Meyer-Schuman R, Hou YM, Gahl WA, Antonellis A, Salomons GS, Mancini GMS. Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails. Am J Hum Genet. 2019 Mar 7;104(3):520-529. doi: 10.1016/j.ajhg.2019.01.006. Epub 2019 Feb 26. PubMed PMID: 30824121; PubMed Central PMCID: PMC6407526. 

Halo JV, Pendleton AL, Jarosz AS, Gifford RJ, Day ML, Kidd JM. Origin and recent expansion of an endogenous gammaretroviral lineage in domestic and wild canids. Retrovirology. 2019 Mar 7;16(1):6. doi: 10.1186/s12977-019-0468-z. PMID: 30845962.