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Department of Genetics faculty and collaborators published twenty papers during the second half of May 2017.

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Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.

Vora NL, Powell B, Brandt A, Strande N, Hardisty E, Gilmore K, Foreman AKM, Wilhelmsen K, Bizon C, Reilly J, Owen P, Powell CM, Skinner D, Rini C, Lyerly AD, Boggess KA, Weck K, Berg JS, Evans JP.

Genet Med. 2017 May 18. doi: 10.1038/gim.2017.33. [Epub ahead of print]

PMID: 28518170

The molecular basis of breast cancer pathological phenotypes.

Heng YJ, Lester SC, Tse GM, Factor RE, Allison KH, Collins LC, Chen YY, Jensen KC, Johnson NB, Jeong JC, Punjabi R, Shin SJ, Singh K, Krings G, Eberhard DA, Tan PH, Korski K, Waldman FM, Gutman DA, Sanders M, Reis-Filho JS, Flanagan SR, Gendoo DM, Chen GM, Haibe-Kains B, Ciriello G, Hoadley KA, Perou CM, Beck AH.

J Pathol. 2017 Feb;241(3):375-391. doi: 10.1002/path.4847. Epub 2016 Dec 29.

PMID: 27861902

A Mouse Model of Chronic West Nile Virus Disease.

Graham JB, Swarts JL, Wilkins C, Thomas S, Green R, Sekine A, Voss KM, Ireton RC, Mooney M, Choonoo G, Miller DR, Treuting PM, Pardo Manuel de Villena F, Ferris MT, McWeeney S, Gale M Jr, Lund JM.

PLoS Pathog. 2016 Nov 2;12(11):e1005996. doi: 10.1371/journal.ppat.1005996. eCollection 2016 Nov.

PMID: 27806117

Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci.

Walford GA, Gustafsson S, Rybin D, Stančáková A, Chen H, Liu CT, Hong J, Jensen RA, Rice K, Morris AP, Mägi R, Tönjes A, Prokopenko I, Kleber ME, Delgado G, Silbernagel G, Jackson AU, Appel EV, Grarup N, Lewis JP, Montasser ME, Landenvall C, Staiger H, Luan J, Frayling TM, Weedon MN, Xie W, Morcillo S, Martínez-Larrad MT, Biggs ML, Chen YD, Corbaton-Anchuelo A, Færch K, Gómez-Zumaquero JM, Goodarzi MO, Kizer JR, Koistinen HA, Leong A, Lind L, Lindgren C, Machicao F, Manning AK, Martín-Núñez GM, Rojo-Martínez G, Rotter JI, Siscovick DS, Zmuda JM, Zhang Z, Serrano-Rios M, Smith U, Soriguer F, Hansen T, Jørgensen TJ, Linnenberg A, Pedersen O, Walker M, Langenberg C, Scott RA, Wareham NJ, Fritsche A, Häring HU, Stefan N, Groop L, O’Connell JR, Boehnke M, Bergman RN, Collins FS, Mohlke KL, Tuomilehto J, März W, Kovacs P, Stumvoll M, Psaty BM, Kuusisto J, Laakso M, Meigs JB, Dupuis J, Ingelsson E, Florez JC.

Diabetes. 2016 Oct;65(10):3200-11. doi: 10.2337/db16-0199. Epub 2016 Jul 14.

PMID: 27416945

Single nucleotide polymorphisms in the REG-CTNNA2 region of chromosome 2 and NEIL3 associated with impulsivity in a Native American sample.

Ehlers CL, Gizer IR, Bizon C, Slutske W, Peng Q, Schork NJ, Wilhelmsen KC.

Genes Brain Behav. 2016 Jul;15(6):568-77. doi: 10.1111/gbb.12297. Epub 2016 Jun 1.

PMID: 27167163

Genomic analysis of oesophageal squamous-cell carcinoma identifies alcohol drinking-related mutation signature and genomic alterations.

Chang J, Tan W, Ling Z, Xi R, Shao M, Chen M, Luo Y, Zhao Y, Liu Y, Huang X, Xia Y, Hu J, Parker JS, Marron D, Cui Q, Peng L, Chu J, Li H, Du Z, Han Y, Tan W, Liu Z, Zhan Q, Li Y, Mao W, Wu C, Lin D.

Nat Commun. 2017 May 26;8:15290. doi: 10.1038/ncomms15290.

PMID: 28548104

Tumor Evolution in Two Patients with Basal-like Breast Cancer: A Retrospective Genomics Study of Multiple Metastases.

Hoadley KA, Siegel MB, Kanchi KL, Miller CA, Ding L, Zhao W, He X, Parker JS, Wendl MC, Fulton RS, Demeter RT, Wilson RK, Carey LA, Perou CM, Mardis ER.

PLoS Med. 2016 Dec 6;13(12):e1002174. doi: 10.1371/journal.pmed.1002174. eCollection 2016 Dec. Erratum in: PLoS Med. 2017 Jan 9;14 (1):e1002222.

PMID: 27923045

Environmental contaminants and microRNA regulation: Transcription factors as regulators of toxicant-altered microRNA expression.

Sollome J, Martin E, Sethupathy P, Fry RC.

Toxicol Appl Pharmacol. 2016 Dec 1;312:61-66. doi: 10.1016/j.taap.2016.06.009. Epub 2016 Jun 10.

PMID: 27292125

A B-Cell Gene Signature Correlates With the Extent of Gluten-Induced Intestinal Injury in Celiac Disease.

Garber ME, Saldanha A, Parker JS, Jones WD, Kaukinen K, Laurila K, Lähdeaho ML, Khatri P, Khosla C, Adelman DC, Mäki M.

Cell Mol Gastroenterol Hepatol. 2017 Jan 28;4(1):1-17. doi: 10.1016/j.jcmgh.2017.01.011. eCollection 2017 Jul.

PMID: 28508029

Expression of the Antisense-to-Latency Transcript Long Noncoding RNA in Kaposi’s Sarcoma-Associated Herpesvirus.

Schifano JM, Corcoran K, Kelkar H, Dittmer DP.

J Virol. 2017 Jan 31;91(4). pii: e01698-16. doi: 10.1128/JVI.01698-16. Print 2017 Feb 15.

PMID: 27928018

Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.

Chami N, Chen MH, Slater AJ, Eicher JD, Evangelou E, Tajuddin SM, Love-Gregory L, Kacprowski T, Schick UM, Nomura A, Giri A, Lessard S, Brody JA, Schurmann C, Pankratz N, Yanek LR, Manichaikul A, Pazoki R, Mihailov E, Hill WD, Raffield LM, Burt A, Bartz TM, Becker DM, Becker LC, Boerwinkle E, Bork-Jensen J, Bottinger EP, O’Donoghue ML, Crosslin DR, de Denus S, Dubé MP, Elliott P, Engström G, Evans MK, Floyd JS, Fornage M, Gao H, Greinacher A, Gudnason V, Hansen T, Harris TB, Hayward C, Hernesniemi J, Highland HM, Hirschhorn JN, Hofman A, Irvin MR, Kähönen M, Lange E, Launer LJ, Lehtimäki T, Li J, Liewald DC, Linneberg A, Liu Y, Lu Y, Lyytikäinen LP, Mägi R, Mathias RA, Melander O, Metspalu A, Mononen N, Nalls MA, Nickerson DA, Nikus K, O’Donnell CJ, Orho-Melander M, Pedersen O, Petersmann A, Polfus L, Psaty BM, Raitakari OT, Raitoharju E, Richard M, Rice KM, Rivadeneira F, Rotter JI, Schmidt F, Smith AV, Starr JM, Taylor KD, Teumer A, Thuesen BH, Torstenson ES, Tracy RP, Tzoulaki I, Zakai NA, Vacchi-Suzzi C, van Duijn CM, van Rooij FJ, Cushman M, Deary IJ, Velez Edwards DR, Vergnaud AC, Wallentin L, Waterworth DM, White HD, Wilson JG, Zonderman AB, Kathiresan S, Grarup N, Esko T, Loos RJ, Lange LA, Faraday N, Abumrad NA, Edwards TL, Ganesh SK, Auer PL, Johnson AD, Reiner AP, Lettre G.

Am J Hum Genet. 2016 Jul 7;99(1):8-21. doi: 10.1016/j.ajhg.2016.05.007. Epub 2016 Jun 23.

PMID: 27346685

Integrative analyses reveal biological pathways and key genes in psoriasis.

Dou J, Zhang L, Xie X, Ye L, Yang C, Wen L, Shen C, Zhu C, Zhao S, Zhu Z, Liang B, Wang Z, Li H, Fan X, Liu S, Yin X, Zheng X, Sun L, Yang S, Cui Y, Zhou F, Zhang X.

Br J Dermatol. 2017 May 25. doi: 10.1111/bjd.15682. [Epub ahead of print]

PMID: 28542811

Gene-Specific DNA Methylation Changes Predict Remission in Patients with ANCA-Associated Vasculitis.

Jones BE, Yang J, Muthigi A, Hogan SL, Hu Y, Starmer J, Henderson CD, Poulton CJ, Brant EJ, Pendergraft WF 3rd, Jennette JC, Falk RJ, Ciavatta DJ.

J Am Soc Nephrol. 2017 Apr;28(4):1175-1187. doi: 10.1681/ASN.2016050548. Epub 2016 Nov 7.

PMID: 27821628

Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.

van der Lee JH, Morton J, Adams HR, Clarke L, Ebbink BJ, Escolar ML, Giugliani R, Harmatz P, Hogan M, Jones S, Kearney S, Muenzer J, Rust S, Semrud-Clikeman M, Wijburg FA, Yu ZF, Janzen D, Shapiro E.

Mol Genet Metab. 2017 May 6. pii: S1096-7192(17)30211-1. doi: 10.1016/j.ymgme.2017.05.004. [Epub ahead of print] Review.

PMID: 28501294

Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos.

Jain D, Hodonsky CJ, Schick UM, Morrison JV, Minnerath S, Brown L, Schurmann C, Liu Y, Auer PL, Laurie CA, Taylor KD, Browning BL, Papanicolaou G, Browning SR, Loos RJF, North KE, Thyagarajan B, Laurie CC, Thornton TA, Sofer T, Reiner AP.

Hum Mol Genet. 2017 Mar 15;26(6):1193-1204. doi: 10.1093/hmg/ddx024.

PMID: 28158719

Direct interrogation of the role of H3K9 in metazoan heterochromatin function.

Penke TJ, McKay DJ, Strahl BD, Matera AG, Duronio RJ.

Genes Dev. 2016 Aug 15;30(16):1866-80. doi: 10.1101/gad.286278.116. Epub 2016 Aug 26.

PMID: 27566777

Structure/Function Analysis of Recurrent Mutations in SETD2 Protein Reveals a Critical and Conserved Role for a SET Domain Residue in Maintaining Protein Stability and Histone H3 Lys-36 Trimethylation.

Hacker KE, Fahey CC, Shinsky SA, Chiang YJ, DiFiore JV, Jha DK, Vo AH, Shavit JA, Davis IJ, Strahl BD, Rathmell WK.

J Biol Chem. 2016 Sep 30;291(40):21283-21295. Epub 2016 Aug 15.

PMID: 27528607

Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases.

Tajuddin SM, Schick UM, Eicher JD, Chami N, Giri A, Brody JA, Hill WD, Kacprowski T, Li J, Lyytikäinen LP, Manichaikul A, Mihailov E, O’Donoghue ML, Pankratz N, Pazoki R, Polfus LM, Smith AV, Schurmann C, Vacchi-Suzzi C, Waterworth DM, Evangelou E, Yanek LR, Burt A, Chen MH, van Rooij FJ, Floyd JS, Greinacher A, Harris TB, Highland HM, Lange LA, Liu Y, Mägi R, Nalls MA, Mathias RA, Nickerson DA, Nikus K, Starr JM, Tardif JC, Tzoulaki I, Velez Edwards DR, Wallentin L, Bartz TM, Becker LC, Denny JC, Raffield LM, Rioux JD, Friedrich N, Fornage M, Gao H, Hirschhorn JN, Liewald DC, Rich SS, Uitterlinden A, Bastarache L, Becker DM, Boerwinkle E, de Denus S, Bottinger EP, Hayward C, Hofman A, Homuth G, Lange E, Launer LJ, Lehtimäki T, Lu Y, Metspalu A, O’Donnell CJ, Quarells RC, Richard M, Torstenson ES, Taylor KD, Vergnaud AC, Zonderman AB, Crosslin DR, Deary IJ, Dörr M, Elliott P, Evans MK, Gudnason V, Kähönen M, Psaty BM, Rotter JI, Slater AJ, Dehghan A, White HD, Ganesh SK, Loos RJ, Esko T, Faraday N, Wilson JG, Cushman M, Johnson AD, Edwards TL, Zakai NA, Lettre G, Reiner AP, Auer PL.

Am J Hum Genet. 2016 Jul 7;99(1):22-39. doi: 10.1016/j.ajhg.2016.05.003. Epub 2016 Jun 23.

PMID: 27346689

Hormone-dependent control of developmental timing through regulation of chromatin accessibility.

Uyehara CM, Nystrom SL, Niederhuber MJ, Leatham-Jensen M, Ma Y, Buttitta LA, McKay DJ.

Genes Dev. 2017 May 23. doi: 10.1101/gad.298182.117. [Epub ahead of print]

PMID: 28536147

Biochemical Activities and Genetic Functions of the Drosophila melanogaster Fancm Helicase in DNA Repair.

Romero NE, Matson SW, Sekelsky J.

Genetics. 2016 Oct;204(2):531-541. Epub 2016 Jul 27.

PMID: 27466228