Publications

2023

The complete sequence of a human Y chromosome
Rhie A, Nurk S, Cechova M, Hoyt SJ, Taylor DJ, Altemose N, Hook PW, Koren S, Rautiainen M, Alexandrov IA, Allen J, Asri M,  Bzikadze AV, Chen N, Chin C, Diekhans M, Flicek P, Formenti G, Fungtammasan A, Giron C, Garrison E, Gershman A, Gerton JL, Grady P, Guarracino A, Haggerty L, Halabian R, Hansen NF, Harris R, Hartley GA, Harvey WT, Haukness M, Heinz J, Hourlier T, Hubley RM, Hunt SE, Hwang S, Jain M, Kesharwani RK, Lewis AP, Li H, Logsdon GA, Lucas JK, Makalowski W,  Markovic C, Martin FJ, Mc Cartney AM, McCoy RC, McDaniel J, McNulty BM, Medvedev P, Mikheenko A, Munson KM,  Murphy TD, Olsen HE, Olson ND, Paulin LF, Porubsky D, Potapova T, Ryabov F, Salzberg SL, Sauria M, Sedlazeck FJ, Shafin K, Shepelev VA, Shumate A, Storer JM, Surapaneni L, Taravella Oill A, Thibaud-Nissen F, Timp W, Tomaszkiewicz M, Vollger MR , Walenz BP, Watwood AC, Weissensteiner MH, Wenger AM, Wilson MA, Zarate S, Zhu Y, Zook JM, Eichler EE, O’Neill RJ,  Schatz MC, Miga KH, Makova KD, and Phillippy AM.
Nature. 2023 Sep;621(7978):344-354. doi: 10.1038/s41586-023-06457-y. Epub 2023 Aug 23.
The variation and evolution of complete human centromeres
Logsdon GA, Rozanski AN, Ryabov F, Potapova TA, Shepelev VA, Mao Y, Rautiainen M, Koren, S, Nurk S, Porubsky D, Lucas JK, Hoekzema K, Munson, KM, Gerton JL, Phillippy AM, Alexandrov IA, Eichler, EE.
bioRxiv [Preprint]. 2023 May 30:2023.05.30.542849. doi: 10.1101/2023.05.30.542849.
The complete sequence and comparative analysis of ape sex chromosomes
Makova KD, Pickett BD, Harris RS, Hartley GA, Cechova M, Pal K, Nurk S, Yoo D, Li Q, Hebbar P, McGrath BC, Antonacci F, Aubel M, Biddanda A, Borchers M, Bomberg E, Bouffard GG, Brooks SY, Carbone L, Carrel L, Carroll A, Chang PC, Chin CS, Cook DE, Craig SJC, de Gennaro L, Diekhans M, Dutra A, Garcia GH, Grady PGS, Green RE, Haddad D, Hallast P, Harvey WT, Hickey G, Hillis DA, Hoyt SJ, Jeong H, Kamali K, Kosakovsky Pond SL, LaPolice TM, Lee C, Lewis AP, Loh YE, Masterson P, McCoy RC, Medvedev P, Miga KH, Munson KM, Pak E, Paten B, Pinto BJ, Potapova T, Rhie A, Rocha JL, Ryabov F, Ryder OA, Sacco S, Shafin K, Shepelev VA, Slon V, Solar SJ, Storer JM, Sudmant PH, Sweetalana, Sweeten A, Tassia MG, Thibaud-Nissen F, Ventura M, Wilson MA, Young AC, Zeng H, Zhang X, Szpiech ZA, Huber CD, Gerton JL, Yi SV, Schatz MC, Alexandrov IA, Koren S, O'Neill RJ, Eichler E, Phillippy AM.bioRxiv [Preprint]. 2023 Dec 1:2023.11.30.569198. doi: 10.1101/2023.11.30.569198.
Distinct states of nucleolar stress induced by anti-cancer drugs
Potapova T, Unruh J, Conkright-Fincham J, Banks CAS, Florens L, Schneider DHG, Gerton JL. eLife. 2023
Defining a core configuration for human centromeres during mitosis
Sen Gupta A, Seidel C, Tsuchiya D, McKinney S, Yu Z, Smith SE, Unruh JR, Gerton JL. Nat Commun. 2023
Myc promotes polyploidy in murine trophoblast cells and suppresses senescence
Singh VP, Hassan H, Deng F, Tsuchiya D, McKinney S, Ferro K, Gerton JL. Development. 2023
Recombination between heterologous acrocentric chromosomes
Guarracino A, Buonaiuto LG, de Lima LG, Potapova T, Rhie A, Koren S, Rubinstein B, Fischer C, Human Pangenome Reference C, Gerton JL, Phillippy AM, Colonna V, Garrison E. Nature. 2023;617:335-343.

2022

Superresolution Microscopy for Visualization of Physical Contacts Between Chromosomes at Nanoscale Resolution
Yu Z, Potapova TA. Methods Mol Biol. 2022:2458:359-375. doi: 10.1007/978-1-0716-2140-0_20.
Semi-automated assembly of high-quality diploid human reference genomes
Jarvis (93 authors including Gerton JL) Miga. Gerton JL. Nature. 2022 Nov;611(7936):519-531. doi: 10.1038/s41586-022-05325-5. Epub 2022 Oct 19.
Mediator recruits the cohesin loader Scc2 to RNA Pol II-transcribed genes and promotes sister chromatid cohesion
Mattingly M, Seidel C, Muñoz S, Hao Y, Zhang Y, Wen Z, Florens L, Uhlmann F, Gerton JL. Curr Biol. 2022 May 26:S0960-9822(22)00778-3. doi: 10.1016/j.cub.2022.05.019.
From telomere to telomere: the transcriptional and epigenetic state of human repeat elements
Hoyt (24 authors including Gerton JL) O'Neill. Science. 2022 376(6588):eabk3112.
Complete genomic and epigenetic maps of human centromeres
Altemose N (56 authors including Gerton JL) Miga K. Science. 2022 376(6588):eabl4178.
The complete sequence of a human genome
Nurk S (89 authors including Gerton JL) Phillippy AM. Science. 2022 376(6588):44-53.

2021

Maternal Smc3 protects the integrity of the zygotic genome through DNA replication and mitosis
Yueh WT, Pratap Singh VP, Gerton JL. Development. 2021 Dec 15;dev.199800. doi: 10.1242/dev.199800.
PCR amplicons identify widespread copy number variation in human centromeric arrays and instability
Gomes de Lima L, Howe E, Singh VP, Miga K, Ryan S, Gerton JL. Cell Genomics. 2021: doi: 10.1016/j.xgen.2021.100064.
Immature Follicular Origins and Disrupted Oocyte Growth Pathways Contribute to Decreased Gamete Quality During Reproductive Juvenescence in Mice
Kusuhara A, Babayev E, Zhou LT, Singh VP, Gerton JL, Duncan FE. Front. Cell Dev. Biol., 16 June 2021.
DNA replication, transcription, and H3K56 acetylation regulate copy number and stability at tandem repeats
Salim D, Bradford WD, Rubinstein B, Gerton JL. G3 (Bethesda). 2021:jkab082.
Faulty ribosome biogenesis underlies the ANE syndrome ribosomopathy
Gerton JL. 2921. Proc Natl Acad Sci U S A. 2021 Jun 15;118(24):e2107030118. doi: 10.1073/pnas.2107030118.
The structure, function and evolution of a complete human chromosome 8
Logsdon GA, Vollger MR, Hsieh P, Mao Y, Liskovykh MA, Koren S, Nurk S, Mercuri L, Dishuck PC, Rhie A, de Lima LG, Dvorkina T, Porubsky D, Harvey WT, Mikheenko A, Bzikadze AV, Kremitzki M, Graves-Lindsay TA, Jain C, Hoekzema K, Murali SC, Munson KM, Baker C, Sorensen M, Lewis AM, Surti U, Gerton JL, Larionov V, Ventura M, Miga KH, Phillippy AM, Eichler EE. Nature. 2021. May;593(7857):101-107. doi: 10.1038/s41586-021-03420-7. Epub 2021 Apr 7
Protocol for mouse trophoblast stem cell isolation, differentiation and cytokine detection
Singh VP, Gerton JL. STAR Protoc. 2021;2:100242. doi: 10.1016/ j.xpro.2020.100242.  

2020

Origins and evolutionary patterns of the 1.688 satellite DNA family in Drosophila phylogeny
de Lima LG, Hanlon SL, Gerton JL.  G3 (Bethesda). 2020 Nov 5;10(11):4129-4146. doi: 10.1534/g3.120.401727.
Persistent DNA damage and senescense in the placenta impacts developmental outcomes of embryos
Vijay Pratap Singh, Sean McKinney, Jennifer L. Gerton. Dev Cell. 2020 Aug 10;54(3):333-347.e7. doi: 10.1016/j.devcel.2020.05.025. Epub 2020 Jun 16.
Telomere-to-telomere assembly of a complete human X chromosomeMiga KH, Koren S, Rhie A, Vollger MR, Gershman A, Bzikadze A, Brooks S, Howe E, Porubsky D, Logsdon GA, Schneider VA, Potapova T, Wood J, Chow W, Armstrong J, Fredrickson J, Pak E, Tigyi K, Kremitzki M, Markovic C, Maduro V, Dutra A, Bouffard GG, Chang AM, Hansen NF, Wilfert AB, Thibaud-Nissen F, Schmitt AD, Belton JM, Selvaraj S, Dennis MY, Soto DC, Sahasrabudhe R, Kaya G, Quick J, Loman NJ, Holmes N, Loose M, Surti U, Risques RA, Graves Lindsay TA, Fulton R, Hall I, Paten B, Howe K, Timp W, Young A, Mullikin JC, Pevzner PA, Gerton JL, Sullivan BA, Eichler EE, Phillippy AM. Nature. 2020;585:79-84.

2019

Super-resolution microscopy reveals linkages between ribosomal DNA on heterologous chromosomes
Potapova TA, Unruh JR, Yu Z, Rancati G, Li H, Stampfer MR, Gerton JL. J Cell Biol. 2019;218:2492-2513.  
The stoichiometry of the outer kinetochore is modulated by microtubule-proximal regulatory factors
Dhatchinamoorthy K, Unruh JR, Lange JJ, Levy M, Slaughter BD, Gerton JL.  J Cell Biol. 2019;218:2124-2135.  
Oocyte-specific deletion of Hdac8 in mice reveals stage-specific effects on fertility
Singh VP, Yueh WT, Gerton JL, Duncan FE. Reproduction. 2019;157:305-316.  
Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018
Kline AD, Krantz ID, Bando M, Shirahige K, Chea S, Sakata T, Rao S, Dorsett D, Singh VP, Gerton JL, Horsfield JA, Calof AL, Katz O, Grados M, Raible S, Baranano K, Lyon G, Musio A, Carrico CS, Clemens DK, Caudill P, Massa V, McGill BE, Dommestrup A, O'Connor J, Haaland RE. Am J Med Genet A. 2019;179:1030-1090.  
Ribosomal DNA instability and genome adaptability
Salim D, Gerton JL. Chromosome Res. 2019;27:73-87.  
Ribosomal DNA and the nucleolus in the context of genome organization
Potapova TA, Gerton JL. Chromosome Res. 2019;27:109-127.  
Ribosomal DNA-connecting ribosome biogenesis and chromosome biology
Porokhovnik L, Gerton JL. Chromosome Res. 2019;27:1-3.  

2018

Chromatin assembly factor-1 (CAF-1) chaperone regulates Cse4 deposition into chromatin in budding yeast​
Hewawasam GS, Dhatchinamoorthy K, Mattingly M, Seidel C, Gerton JL. Chromatin assembly factor-1 (CAF-1) chaperone regulates Cse4 deposition into chromatin in budding yeast. [published ahead of print May 8 2018]. Nucleic Acids Res. 2018.​  
Integrative structure and functional anatomy of a nuclear pore complex
Kim SJ, Fernandez-Martinez J, Nudelman I, Shi Y, Zhang W, Raveh B, Herricks T, Slaughter BD, Hogan JA, Upla P, Chemmama IE, Pellarin R, Echeverria I, Shivaraju M, Chaudhury AS, Wang J, Williams R, Unruh JR, Greenberg CH, Jacobs EY, Yu Z, de la Cruz MJ, Mironska R, Stokes DL, Aitchison JD, Jarrold MF, Gerton JL, Ludtke SJ, Akey CW, Chait BT, Sali A, Rout MP. Nature. 2018;555:475-482.  
Cohesin facilitates zygotic genome activation in zebrafish
Meier M, Grant J, Dowdle A, Thomas A, Gerton J, Collas P, O'Sullivan JM, Horsfield JA. Development. 2018;145:dev156521. 156510.151242/dev.156521.  
A transcription factor primes the condensin pump
Gerton JL. J Cell Biol. 2018;217:2233-2234.  
Regulation of kinetochore configuration during mitosis
Dhatchinamoorthy K, Mattingly M, Gerton JL. Curr Genet. 2018;64:1197-1203.  
Mammalian oogenesis and female reproductive aging
Duncan FE, Gerton JL. Aging (Albany NY). 2018;10:162-163.  
Taking cohesin and condensin in context
Yuen KC, Gerton JL. PLoS Genet. 2018;14:e1007118. doi: 10.1371/journal.pgen.1007118.  

2017

Structural plasticity of the living kinetochore
Dhatchinamoorthy K, Shivaraju M, Lange JJ, Rubinstein B, Unruh JR, Slaughter BD, Gerton JL. J Cell Biol. 2017;216:3551-3570.  
Age-associated dysregulation of protein metabolism in the mammalian oocyte
Duncan FE, Jasti S, Paulson A, Kelsh JM, Fegley B, Gerton JL. Aging Cell. 2017;16:1381-1393.  
DNA replication stress restricts ribosomal DNA copy number
Salim D, Bradford WD, Freeland A, Cady G, Wang J, Pruitt SC, Gerton JL.  PLoS Genet. 2017;13:e1007006.doi: 10.1371/journal.pgen.1007006.  
Ribosomal DNA copy number loss and sequence variation in cancer​
Xu B, Li H, Perry JM, Singh VP, Unruh J, Yu Z, Zakari M, McDowell W, Li L, Gerton JL. PLoS Genet. 2017;13:e1006771. doi: 10.1371/journal.pgen.1006771  
Condensin II is anchored by TFIIIC and H3K4me3 in the mammalian genome and supports expression of active dense gene clusters          
KC Y, BD S, Gerton JL. Sci Adv. 2017;3:e1700191. doi: 1700110.1701126/sciadv.1700191.

2016

Mms21 SUMO Ligase Activity Promotes Nucleolar Function in Saccharomyces cerevisiae
Kim DH, Harris B, Wang F, Seidel C, McCroskey S, Gerton JL. Genetics. 2016;204:645-658.  

2015

NIPBL controls RNA biogenesis to prevent activation of the stress kinase PKR.  
Yuen KC, Xu B, Krantz ID, Gerton JL. Cell Rep. 2016;14:93-102.  
The SMC Loader Scc2 Promotes ncRNA Biogenesis and Translational Fidelity.
Zakari M, Trimble Ross R, Peak A, Blanchette M, Seidel C, Gerton JL. PLoS Genet. 2015;11:E1005308. doi:1005310.1001371/journal.pgen.1005308.  
Cohesin and human disease: lessons from mouse models.
Singh VP, Gerton JL. Curr Opin Cell Biol. 2015;37:9-17.  
Etiology and pathogenesis of the cohesinopathies.
Zakari M, Yuen K, Gerton JL. Wiley Interdiscip Rev Dev Biol. 2015;4:489-504.  
The SMC loader Scc2 regulates gene expression.
Zakari M, Gerton JL. Cell Cycle. 2015;14:943.  

2014

Phosphorylation by Casein Kinase 2 Facilitates Psh1 Protein-assisted Degradation of Cse4 Protein.
Hewawasam GS, Mattingly M, Venkatesh S, Zhang Y, Florens L, Workman JL, Gerton JL. J Biol Chem. 2014;289:29297-29309.
The cohesin acetyltransferase Eco1 coordinates rDNA replication and transcription.
Lu S, Lee KK, Harris B, Xiong B, Bose T, Saraf A, Hattem G, Florens L, Seidel C, Gerton JL. EMBO Rep. 2014;15:609-617.  
Cohesion promotes nucleolar structure and function.
Harris B, Bose T, Lee KK, Wang F, Lu S, Ross RT, Zhang Y, French SL, Beyer AL, Slaughter BD, Unruh JR, Gerton JL. Mol Biol Cell. 2014;25:337-346.  

2013

Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome.
Xu B, Lee KK, Zhang L, Gerton JL. PLoS Genet. 2013:e1003857.  

2012

Cell-cycle-coupled structural oscillation of centromeric nucleosomes in yeast.
Shivaraju M, Unruh JR, Slaughter BD, Mattingly M, Berman J, Gerton JL. Cell. 2012;150:304-316.  
Cohesin proteins promote ribosomal RNA production and protein translation in yeast and human cells.
Bose T, Lee KK, Lu S, Xu B, Harris B, Slaughter B, Unruh J, Garrett A, McDowell W, Box A, Li H, Peak A, Ramachandran S, Seidel C, Gerton JL.  PLoS Genet. 2012;8:e1002749.  
Translational mechanisms at work in the cohesinopathies.
Gerton JL. Nucleus. 2012;3:520-525.  

2011

Scm3 is a centromeric nucleosome assembly factor.
Shivaraju M, Camahort R, Mattingly M, Gerton JL.  J Biol Chem. 2011;286:12016-12023.
The dynamics of the Cse4 chaperone Scm3.
Shivaraju M, Gerton JL. Cell Cycle. 2011;10:3823.  
Cse4 gets a kiss-of-death from Psh1.
Hewawasam GS, Gerton JL.  Cell Cycle. 2011;10:566-567.  

2010

Hos1 is a lysine deacetylase for the smc3 subunit of cohesin.
Xiong B, Lu S, Gerton JL.  Curr Biol. 2010;20:1660-1665.  
Eco1 is important for DNA damage repair in S. cerevisiae.
Lu S, Goering M, Gard S, Xiong B, McNairn AJ, Jaspersen SL, Gerton JL.  Cell Cycle. 2010;9:3315-3327.  
Cohesinopathies, gene expression, and chromatin organization.
Bose T, Gerton JL.  J Cell Biol. 2010;189:201-210.  
Regulators of the cohesin network.
Xiong B, Gerton JL.  Annu Rev Biochem. 2010;79:131-153.  

2009

Cohesinopathy mutations disrupt the subnuclear organization of chromatin.
Gard S, Light W, Xiong B, Bose T, McNairn AJ, Harris B, Fleharty B, Seidel C, Brickner JH, Gerton JL.  J Cell Biol. 2009;187:455-462.  
Cse4 is part of an octameric nucleosome in budding yeast.
Camahort R, Shivaraju M, Mattingly M, Li B, Nakanishi S, Zhu D, Shilatifard A, Workman JL, Gerton JL.  Mol Cell. 2009;35:794-805.​  

2008

The chromosome glue gets a little stickier
McNairn AJ, Gerton JL. Trends Genet.2008;24:382-389.  
Cohesinopathies: One ring, many obligations
McNairn AJ, Gerton JL. Mutat Res.2008;647:103-111.  

2007

Transcription Alters Chromosomal Locations of Cohesin in Saccharomyces cerevisiae
Bausch C, Noone S, Henry JM, Gaudenz K, Sanderson B, Seidel C, Gerton JL. Mol Cell Biol.2007;27:8522-8532.  
Scm3 Is Essential to Recruit the Histone H3 Variant Cse4 to Centromeres and to Maintain a Functional Kinetochore
Camahort R, Li B, Florens L, Swanson SK, Washburn MP, Gerton JL. Mol Cell.2007;26:853-865.  
An orthologue of the Ro autoantigen functions in 23S rRNA maturation in D. radiodurans
Collins KA, Camahort R, Seidel C, Gerton JL, Biggins S, Chen X, Wurtmann EJ, Van Batavia J, Zybailov B, Washburn MP, Wolin SL. Genes Dev.2007;21:1328-1339.  

2006

MND 1/HOP2 Facilitates Dmc1-Dependent Interhomolog Crossover Formation in Meiosis of Budding Yeast
Henry JM, Camahort R, Rice DA, Florens L, Swanson SK, Washburn MP, Gerton J. Mol Cell Biol.2006;26:2913-2923.  

2005

Preferential occupancy of histone variant H2AZ at inactive promoters influences local histone modifications and chromatin remodeling
Li B, Pattenden SG, Lee D, Gutierrez J, Chen J, Seidel C, Gerton J, Workman JL. Proc Natl Acad Sci U S A.2005.  
HOMOLOGOUS CHROMOSOME INTERACTIONS IN MEIOSIS: DIVERSITY AMIDST CONSERVATION
Gerton JL, Hawley RS. Nat Rev Genet.2005;6:477-487.  

2004

Genome-Wide Mapping of the Cohesin Complex in the Yeast Saccharomyces cerevisiae
Glynn EF, Megee PC, Yu HG, Mistrot C, Unal E, Koshland DE, DeRisi JL, Gerton JL. PLoS Biol.2004;2:E259.  
The Kinetochore Is an Enhancer of Pericentric Cohesin Binding  
Weber SA, Gerton JL, Polancic JE, DeRisi JL, Koshland D, Megee PC. PLoS Biol. 2004;2:E260.  

1992-2003