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UNC Genetics PublicationsDepartment of Genetics faculty, postdocs, students and collaborators published 18 papers during April 10th – 23rd, 2022.

 

Chromatin architecture in addiction circuitry identifies risk genes and potential biological mechanisms underlying cigarette smoking and alcohol use traits. 

Sey NYA, Hu B, Iskhakova M, Lee S, Sun H, Shokrian N, Ben Hutta G, Marks JA, Quach BC, Johnson EO, Hancock DB, Akbarian S, Won H.

Mol Psychiatry. 2022 Apr 14. doi: 10.1038/s41380-022-01558-y. Online ahead of print.

PMID: 35422469

 

Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women. 

Wang X, Kapoor PM, Auer PL, Dennis J, Dunning AM, Wang Q, Lush M, Michailidou K, Bolla MK, Aronson KJ, Murphy RA, Brooks-Wilson A, Lee DG, Cordina-Duverger E, Guénel P, Truong T, Mulot C, Teras LR, Patel AV, Dossus L, Kaaks R, Hoppe R, Lo WY, Brüning T, Hamann U, Czene K, Gabrielson M, Hall P, Eriksson M, Jung A, Becher H, Couch FJ, Larson NL, Olson JE, Ruddy KJ, Giles GG, MacInnis RJ, Southey MC, Le Marchand L, Wilkens LR, Haiman CA, Olsson H, Augustinsson A, Krüger U, Wagner P, Scott C, Winham SJ, Vachon CM, Perou CM, Olshan AF, Troester MA, Hunter DJ, Eliassen HA, Tamimi RM, Brantley K, Andrulis IL, Figueroa J, Chanock SJ, Ahearn TU, García-Closas M, Evans GD, Newman WG, van Veen EM, Howell A, Wolk A, Håkansson N, Anton-Culver H, Ziogas A, Jones ME, Orr N, Schoemaker MJ, Swerdlow AJ, Kitahara CM, Linet M, Prentice RL, Easton DF, Milne RL, Kraft P, Chang-Claude J, Lindström S.

Sci Rep. 2022 Apr 13;12(1):6199. doi: 10.1038/s41598-022-10121-2.

PMID: 35418701 Free PMC article.

 

RBBP4 dysfunction reshapes the genomic landscape of H3K27 methylation and acetylation and disrupts gene expression. 

Mu W, Murcia NS, Smith KN, Menon DU, Yee D, Magnuson T.

G3 (Bethesda). 2022 Apr 13:jkac082. doi: 10.1093/g3journal/jkac082. Online ahead of print.

PMID: 35416979

 

Enhancer RNA Transcription Is Essential for a Novel CSF1 Enhancer in Triple-Negative Breast Cancer. 

Lewis MW, Wisniewska K, King CM, Li S, Coffey A, Kelly MR, Regner MJ, Franco HL.

Cancers (Basel). 2022 Apr 6;14(7):1852. doi: 10.3390/cancers14071852.

PMID: 35406623 Free PMC article.

 

Challenges and Gaps in Clinical Trial Genomic Data Management. 

Asad S, Kananen K, Mueller KR, Symmans WF, Wen Y, Perou CM, Blachly JS, Chen J, Vincent BG, Stover DG.

JCO Clin Cancer Inform. 2022 Mar;6:e2100193. doi: 10.1200/CCI.21.00193.

PMID: 35404674 No abstract available.

 

Interferon activated gene 204 (Ifi204) protects against bone loss in experimental periodontitis. 

Swanson KV, Girnary M, Alves T, Ting JP, Divaris K, Beck J, Pucinelli CM, da Silva RAB, Uyan D, Wilson J, Seaman WT, Webster-Cyriaque J, Vias N, Jiao Y, Cantley L, Marlier A, Arnold RR, Marchesan JT.

J Periodontol. 2022 Apr 11. doi: 10.1002/JPER.21-0668. Online ahead of print.

PMID: 35404474

 

BET Protein Inhibition Regulates Macrophage Chromatin Accessibility and Microbiota-Dependent Colitis. 

Hoffner O’Connor M, Berglind A, Kennedy Ng MM, Keith BP, Lynch ZJ, Schaner MR, Steinbach EC, Herzog J, Trad OK, Jeck WR, Arthur JC, Simon JM, Sartor RB, Furey TS, Sheikh SZ.

Front Immunol. 2022 Mar 24;13:856966. doi: 10.3389/fimmu.2022.856966. eCollection 2022.

PMID: 35401533 Free PMC article.

 

Mapping chromatin loops in single cells. 

Yu M, Li Y, Hu M.

Trends Genet. 2022 Apr 7:S0168-9525(22)00068-3. doi: 10.1016/j.tig.2022.03.007. Online ahead of print.

PMID: 35400543

 

Mapping genomic loci implicates genes and synaptic biology in schizophrenia. 

Trubetskoy V, Pardiñas AF, Qi T, Panagiotaropoulou G, Awasthi S, Bigdeli TB, Bryois J, Chen CY, Dennison CA, Hall LS, Lam M, Watanabe K, Frei O, Ge T, Harwood JC, Koopmans F, Magnusson S, Richards AL, Sidorenko J, Wu Y, Zeng J, Grove J, Kim M, Li Z, Voloudakis G, Zhang W, Adams M, Agartz I, Atkinson EG, Agerbo E, Al Eissa M, Albus M, Alexander M, Alizadeh BZ, Alptekin K, Als TD, Amin F, Arolt V, Arrojo M, Athanasiu L, Azevedo MH, Bacanu SA, Bass NJ, Begemann M, Belliveau RA, Bene J, Benyamin B, Bergen SE, Blasi G, Bobes J, Bonassi S, Braun A, Bressan RA, Bromet EJ, Bruggeman R, Buckley PF, Buckner RL, Bybjerg-Grauholm J, Cahn W, Cairns MJ, Calkins ME, Carr VJ, Castle D, Catts SV, Chambert KD, Chan RCK, Chaumette B, Cheng W, Cheung EFC, Chong SA, Cohen D, Consoli A, Cordeiro Q, Costas J, Curtis C, Davidson M, Davis KL, de Haan L, Degenhardt F, DeLisi LE, Demontis D, Dickerson F, Dikeos D, Dinan T, Djurovic S, Duan J, Ducci G, Dudbridge F, Eriksson JG, Fañanás L, Faraone SV, Fiorentino A, Forstner A, Frank J, Freimer NB, Fromer M, Frustaci A, Gadelha A, Genovese G, Gershon ES, Giannitelli M, Giegling I, Giusti-Rodríguez P, Godard S, Goldstein JI, González Peñas J, González-Pinto A, Gopal S, Gratten J, Green MF, Greenwood TA, Guillin O, Gülöksüz S, Gur RE, Gur RC, Gutiérrez B, Hahn E, Hakonarson H, Haroutunian V, Hartmann AM, Harvey C, Hayward C, Henskens FA, Herms S, Hoffmann P, Howrigan DP, Ikeda M, Iyegbe C, Joa I, Julià A, Kähler AK, Kam-Thong T, Kamatani Y, Karachanak-Yankova S, Kebir O, Keller MC, Kelly BJ, Khrunin A, Kim SW, Klovins J, Kondratiev N, Konte B, Kraft J, Kubo M, Kučinskas V, Kučinskiene ZA, Kusumawardhani A, Kuzelova-Ptackova H, Landi S, Lazzeroni LC, Lee PH, Legge SE, Lehrer DS, Lencer R, Lerer B, Li M, Lieberman J, Light GA, Limborska S, Liu CM, Lönnqvist J, Loughland CM, Lubinski J, Luykx JJ, Lynham A, Macek M Jr, Mackinnon A, Magnusson PKE, Maher BS, Maier W, Malaspina D, Mallet J, Marder SR, Marsal S, Martin AR, Martorell L, Mattheisen M, McCarley RW, McDonald C, McGrath JJ, Medeiros H, Meier S, Melegh B, Melle I, Mesholam-Gately RI, Metspalu A, Michie PT, Milani L, Milanova V, Mitjans M, Molden E, Molina E, Molto MD, Mondelli V, Moreno C, Morley CP, Muntané G, Murphy KC, Myin-Germeys I, Nenadić I, Nestadt G, Nikitina-Zake L, Noto C, Nuechterlein KH, O’Brien NL, O’Neill FA, Oh SY, Olincy A, Ota VK, Pantelis C, Papadimitriou GN, Parellada M, Paunio T, Pellegrino R, Periyasamy S, Perkins DO, Pfuhlmann B, Pietiläinen O, Pimm J, Porteous D, Powell J, Quattrone D, Quested D, Radant AD, Rampino A, Rapaport MH, Rautanen A, Reichenberg A, Roe C, Roffman JL, Roth J, Rothermundt M, Rutten BPF, Saker-Delye S, Salomaa V, Sanjuan J, Santoro ML, Savitz A, Schall U, Scott RJ, Seidman LJ, Sharp SI, Shi J, Siever LJ, Sigurdsson E, Sim K, Skarabis N, Slominsky P, So HC, Sobell JL, Söderman E, Stain HJ, Steen NE, Steixner-Kumar AA, Stögmann E, Stone WS, Straub RE, Streit F, Strengman E, Stroup TS, Subramaniam M, Sugar CA, Suvisaari J, Svrakic DM, Swerdlow NR, Szatkiewicz JP, Ta TMT, Takahashi A, Terao C, Thibaut F, Toncheva D, Tooney PA, Torretta S, Tosato S, Tura GB, Turetsky BI, Üçok A, Vaaler A, van Amelsvoort T, van Winkel R, Veijola J, Waddington J, Walter H, Waterreus A, Webb BT, Weiser M, Williams NM, Witt SH, Wormley BK, Wu JQ, Xu Z, Yolken R, Zai CC, Zhou W, Zhu F, Zimprich F, Atbaşoğlu EC, Ayub M, Benner C, Bertolino A, Black DW, Bray NJ, Breen G, Buccola NG, Byerley WF, Chen WJ, Cloninger CR, Crespo-Facorro B, Donohoe G, Freedman R, Galletly C, Gandal MJ, Gennarelli M, Hougaard DM, Hwu HG, Jablensky AV, McCarroll SA, Moran JL, Mors O, Mortensen PB, Müller-Myhsok B, Neil AL, Nordentoft M, Pato MT, Petryshen TL, Pirinen M, Pulver AE, Schulze TG, Silverman JM, Smoller JW, Stahl EA, Tsuang DW, Vilella E, Wang SH, Xu S; Indonesia Schizophrenia Consortium; PsychENCODE; Psychosis Endophenotypes International Consortium; SynGO Consortium, Adolfsson R, Arango C, Baune BT, Belangero SI, Børglum AD, Braff D, Bramon E, Buxbaum JD, Campion D, Cervilla JA, Cichon S, Collier DA, Corvin A, Curtis D, Forti MD, Domenici E, Ehrenreich H, Escott-Price V, Esko T, Fanous AH, Gareeva A, Gawlik M, Gejman PV, Gill M, Glatt SJ, Golimbet V, Hong KS, Hultman CM, Hyman SE, Iwata N, Jönsson EG, Kahn RS, Kennedy JL, Khusnutdinova E, Kirov G, Knowles JA, Krebs MO, Laurent-Levinson C, Lee J, Lencz T, Levinson DF, Li QS, Liu J, Malhotra AK, Malhotra D, McIntosh A, McQuillin A, Menezes PR, Morgan VA, Morris DW, Mowry BJ, Murray RM, Nimgaonkar V, Nöthen MM, Ophoff RA, Paciga SA, Palotie A, Pato CN, Qin S, Rietschel M, Riley BP, Rivera M, Rujescu D, Saka MC, Sanders AR, Schwab SG, Serretti A, Sham PC, Shi Y, St Clair D, Stefánsson H, Stefansson K, Tsuang MT, van Os J, Vawter MP, Weinberger DR, Werge T, Wildenauer DB, Yu X, Yue W, Holmans PA, Pocklington AJ, Roussos P, Vassos E, Verhage M, Visscher PM, Yang J, Posthuma D, Andreassen OA, Kendler KS, Owen MJ, Wray NR, Daly MJ, Huang H, Neale BM, Sullivan PF, Ripke S, Walters JTR, O’Donovan MC; Schizophrenia Working Group of the Psychiatric Genomics Consortium.

Nature. 2022 Apr 8. doi: 10.1038/s41586-022-04434-5. Online ahead of print.

PMID: 35396580

 

Rare coding variants in ten genes confer substantial risk for schizophrenia. 

Singh T, Poterba T, Curtis D, Akil H, Al Eissa M, Barchas JD, Bass N, Bigdeli TB, Breen G, Bromet EJ, Buckley PF, Bunney WE, Bybjerg-Grauholm J, Byerley WF, Chapman SB, Chen WJ, Churchhouse C, Craddock N, Cusick CM, DeLisi L, Dodge S, Escamilla MA, Eskelinen S, Fanous AH, Faraone SV, Fiorentino A, Francioli L, Gabriel SB, Gage D, Gagliano Taliun SA, Ganna A, Genovese G, Glahn DC, Grove J, Hall MH, Hämäläinen E, Heyne HO, Holi M, Hougaard DM, Howrigan DP, Huang H, Hwu HG, Kahn RS, Kang HM, Karczewski KJ, Kirov G, Knowles JA, Lee FS, Lehrer DS, Lescai F, Malaspina D, Marder SR, McCarroll SA, McIntosh AM, Medeiros H, Milani L, Morley CP, Morris DW, Mortensen PB, Myers RM, Nordentoft M, O’Brien NL, Olivares AM, Ongur D, Ouwehand WH, Palmer DS, Paunio T, Quested D, Rapaport MH, Rees E, Rollins B, Satterstrom FK, Schatzberg A, Scolnick E, Scott LJ, Sharp SI, Sklar P, Smoller JW, Sobell JL, Solomonson M, Stahl EA, Stevens CR, Suvisaari J, Tiao G, Watson SJ, Watts NA, Blackwood DH, Børglum AD, Cohen BM, Corvin AP, Esko T, Freimer NB, Glatt SJ, Hultman CM, McQuillin A, Palotie A, Pato CN, Pato MT, Pulver AE, St Clair D, Tsuang MT, Vawter MP, Walters JT, Werge TM, Ophoff RA, Sullivan PF, Owen MJ, Boehnke M, O’Donovan MC, Neale BM, Daly MJ.

Nature. 2022 Apr 8. doi: 10.1038/s41586-022-04556-w. Online ahead of print.

PMID: 35396579

 

Internode elongation in energy cane shows remarkable clues on lignocellulosic biomass biosynthesis in Saccharum hybrids. 

Yanagui K, Camargo ELO, Guilherme F de Abreu L, Nagamatsu ST, Fiamenghi MB, Silva NV, Carazzolle MF, Nascimento LC, Franco SF, Bressiani JA, Mieczkowski PA, Carolina B Grassi M, Amarante G Pereira G.

Gene. 2022 Apr 9:146476. doi: 10.1016/j.gene.2022.146476. Online ahead of print.

PMID: 35413393

 

Parental Guidance Suggested: Engaging Parents as Partners in Research Studies of Genomic Screening for a Pediatric Population. 

Powell SN, Byfield G, Bennetone A, Frantz AM, Harrison LK, James-Crook ER, Osborne H, Owens TH, Shaw JL, O’Daniel J, Milko LV.

Front Genet. 2022 Mar 25;13:867030. doi: 10.3389/fgene.2022.867030. eCollection 2022.

PMID: 35401676 Free PMC article.

 

The pro-apoptotic Bax gene modifies susceptibility to craniofacial dysmorphology following gastrulation-stage alcohol exposure. 

Fish EW, Mendoza-Romero HN, Love CA, Dragicevich CJ, Cannizzo MD, Boschen KE, Hepperla A, Simon JM, Parnell SE.

Birth Defects Res. 2022 Apr 9. doi: 10.1002/bdr2.2009. Online ahead of print.

PMID: 35396933

 

Distinct developmental phenotypes result from mutation of Set8/KMT5A and histone H4 lysine 20 in Drosophila melanogaster. 

Crain AT, Klusza S, Armstrong RL, Santa Rosa P, Temple BRS, Strahl BD, McKay DJ, Matera AG, Duronio RJ.

Genetics. 2022 Apr 11:iyac054. doi: 10.1093/genetics/iyac054. Online ahead of print.

PMID: 35404465

 

Acute Leukemia Classification Using Transcriptional Profiles From Low-Cost Nanopore mRNA Sequencing. 

Wang J, Bhakta N, Ayer Miller V, Revsine M, Litzow MR, Paietta E, Fedoriw Y, Roberts KG, Gu Z, Mullighan CG, Jones CD, Alexander TB.

JCO Precis Oncol. 2022 Apr;6:e2100326. doi: 10.1200/PO.21.00326.

PMID: 35442720

 

CHD4 is recruited by GATA4 and NKX2-5 to repress noncardiac gene programs in the developing heart. 

Robbe ZL, Shi W, Wasson LK, Scialdone AP, Wilczewski CM, Sheng X, Hepperla AJ, Akerberg BN, Pu WT, Cristea IM, Davis IJ, Conlon FL.

Genes Dev. 2022 Apr 21. doi: 10.1101/gad.349154.121. Online ahead of print.

PMID: 35450884

 

Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. 

Lai D, Gade M, Yang E, Koh HY, Lu J, Walley NM, Buckley AF, Sands TT, Akman CI, Mikati MA, McKhann GM, Goldman JE, Canoll P, Alexander AL, Park KL, Von Allmen GK, Rodziyevska O, Bhattacharjee MB, Lidov HGW, Vogel H, Grant GA, Porter BE, Poduri AH, Crino PB, Heinzen EL.

Brain. 2022 Apr 20:awac117. doi: 10.1093/brain/awac117. Online ahead of print.

PMID: 35441233

 

Most Frequently Cited Accreditation Inspection Deficiencies for Clinical Molecular Oncology Testing Laboratories and Opportunities for Improvement. 

Sidiropoulos N, Daley SK, Briggs M, Fernandes H, Lockwood CM, Mahmoud AZ, Merker JD, Vasalos P, Wielgos LM, Moncur JT, Farkas DH.

Arch Pathol Lab Med. 2022 Apr 19. doi: 10.5858/arpa.2021-0448-CP. Online ahead of print.

PMID: 35438717