Rafael Daniel Camerini-Otero, M.D., Ph.D.
Photo of Rafael Camerini-Otero.
Scientific Focus Areas: Chromosome Biology, Computational Biology, Genetics and Genomics, Molecular Biology and Biochemistry, Systems Biology


A selection of recent and significant publications can be viewed below.

Select Publications

Genetic recombination is directed away from functional genomic elements in mice.
Brick K, Smagulova F, Khil P, Camerini-Otero RD, Petukhova GV.
Nature (2012 May 13) 485:642-5. Abstract/Full Text
DNA recombination. Recombination initiation maps of individual human genomes.
Pratto F, Brick K, Khil P, Smagulova F, Petukhova GV, Camerini-Otero RD.
Science (2014 Nov 14) 346:1256442. Abstract/Full Text
Extensive sex differences at the initiation of genetic recombination.
Brick K, Thibault-Sennett S, Smagulova F, Lam KG, Pu Y, Pratto F, Camerini-Otero RD, Petukhova GV.
Nature (2018 Sep) 561:338-342. Abstract/Full Text
Cell-type-specific genomics reveals histone modification dynamics in mammalian meiosis.
Lam KG, Brick K, Cheng G, Pratto F, Camerini-Otero RD.
Nat Commun (2019 Aug 23) 10:3821. Abstract/Full Text
Meiotic recombination mirrors patterns of germline replication in mice and humans.
Pratto F, Brick K, Cheng G, Lam KG, Cloutier JM, Dahiya D, Wellard SR, Jordan PW, Camerini-Otero RD.
Cell (2021 Aug 5) 184:4251-4267.e20. Abstract/Full Text

Additional Publications

Rat PRDM9 shapes recombination landscapes, duration of meiosis, gametogenesis, and age of fertility.
Mihola O, Landa V, Pratto F, Brick K, Kobets T, Kusari F, Gasic S, Smagulova F, Grey C, Flachs P, Gergelits V, Tresnak K, Silhavy J, Mlejnek P, Camerini-Otero RD, Pravenec M, Petukhova GV, Trachtulec Z.
BMC Biol (2021 Apr 28) 19:86. Abstract/Full Text
Ensuring meiotic DNA break formation in the mouse pseudoautosomal region.
Acquaviva L, Boekhout M, Karasu ME, Brick K, Pratto F, Li T, van Overbeek M, Kauppi L, Camerini-Otero RD, Jasin M, Keeney S.
Nature (2020 Jun) 582:426-431. Abstract/Full Text
After the break: DSB end processing in mouse meiosis.
Brick K, Pratto F, Camerini-Otero RD.
Genes Dev (2020 Jun 1) 34:731-732. Abstract/Full Text
High-Throughput Single-Cell Sequencing with Linear Amplification.
Yin Y, Jiang Y, Lam KG, Berletch JB, Disteche CM, Noble WS, Steemers FJ, Camerini-Otero RD, Adey AC, Shendure J.
Mol Cell (2019 Nov 21) 76:676-690.e10. Abstract/Full Text
Histone methyltransferase PRDM9 is not essential for meiosis in male mice.
Mihola O, Pratto F, Brick K, Linhartova E, Kobets T, Flachs P, Baker CL, Sedlacek R, Paigen K, Petkov PM, Camerini-Otero RD, Trachtulec Z.
Genome Res (2019 Jul) 29:1078-1086. Abstract/Full Text
REC114 Partner ANKRD31 Controls Number, Timing, and Location of Meiotic DNA Breaks.
Boekhout M, Karasu ME, Wang J, Acquaviva L, Pratto F, Brick K, Eng DY, Xu J, Camerini-Otero RD, Patel DJ, Keeney S.
Mol Cell (2019 Jun 6) 74:1053-1068.e8. Abstract/Full Text
Interrogating the Functions of PRDM9 Domains in Meiosis.
Thibault-Sennett S, Yu Q, Smagulova F, Cloutier J, Brick K, Camerini-Otero RD, Petukhova GV.
Genetics (2018 Jun) 209:475-487. Abstract/Full Text
Analysis of Meiotic Double-Strand Break Initiation in Mammals.
Brick K, Pratto F, Sun CY, Camerini-Otero RD, Petukhova G.
Methods Enzymol (2018) 601:391-418. Abstract/Full Text
Meiotic Knockdown and Complementation Reveals Essential Role of RAD51 in Mouse Spermatogenesis.
Dai J, Voloshin O, Potapova S, Camerini-Otero RD.
Cell Rep (2017 Feb 7) 18:1383-1394. Abstract/Full Text
Erratum: The evolutionary turnover of recombination hot spots contributes to speciation in mice.
Smagulova F, Brick K, Pu Y, Camerini-Otero RD, Petukhova GV.
Genes Dev (2016 Apr 1) 30:871. Abstract/Full Text
Re-engineering the zinc fingers of PRDM9 reverses hybrid sterility in mice.
Davies B, Hatton E, Altemose N, Hussin JG, Pratto F, Zhang G, Hinch AG, Moralli D, Biggs D, Diaz R, Preece C, Li R, Bitoun E, Brick K, Green CM, Camerini-Otero RD, Myers SR, Donnelly P.
Nature (2016 Feb 11) 530:171-176. Abstract/Full Text
The evolutionary turnover of recombination hot spots contributes to speciation in mice.
Smagulova F, Brick K, Pu Y, Camerini-Otero RD, Petukhova GV.
Genes Dev (2016 Feb 1) 30:266-80. Abstract/Full Text
HOP2-MND1 modulates RAD51 binding to nucleotides and DNA.
Bugreev DV, Huang F, Mazina OM, Pezza RJ, Voloshin ON, Camerini-Otero RD, Mazin AV.
Nat Commun (2014 Jun 19) 5:4198. Abstract/Full Text
The dual role of HOP2 in mammalian meiotic homologous recombination.
Pezza RJ, Voloshin ON, Volodin AA, Boateng KA, Bellani MA, Mazin AV, Camerini-Otero RD.
Nucleic Acids Res (2014 Feb) 42:2346-57. Abstract/Full Text
Integrated transcriptome analysis of mouse spermatogenesis.
Margolin G, Khil PP, Kim J, Bellani MA, Camerini-Otero RD.
BMC Genomics (2014 Jan 18) 15:39. Abstract/Full Text
Mechanistic insights into the role of Hop2-Mnd1 in meiotic homologous DNA pairing.
Zhao W, Saro D, Hammel M, Kwon Y, Xu Y, Rambo RP, Williams GJ, Chi P, Lu L, Pezza RJ, Camerini-Otero RD, Tainer JA, Wang HW, Sung P.
Nucleic Acids Res (2014 Jan) 42:906-17. Abstract/Full Text
Suppression of genetic recombination in the pseudoautosomal region and at subtelomeres in mice with a hypomorphic Spo11 allele.
Smagulova F, Brick K, Pu Y, Sengupta U, Camerini-Otero RD, Petukhova GV.
BMC Genomics (2013 Jul 22) 14:493. Abstract/Full Text
Homologous pairing preceding SPO11-mediated double-strand breaks in mice.
Boateng KA, Bellani MA, Gregoretti IV, Pratto F, Camerini-Otero RD.
Dev Cell (2013 Jan 28) 24:196-205. Abstract/Full Text
Rsx is a metatherian RNA with Xist-like properties in X-chromosome inactivation.
Grant J, Mahadevaiah SK, Khil P, Sangrithi MN, Royo H, Duckworth J, McCarrey JR, VandeBerg JL, Renfree MB, Taylor W, Elgar G, Camerini-Otero RD, Gilchrist MJ, Turner JM.
Nature (2012 Jul 12) 487:254-8. Abstract/Full Text
Sensitive mapping of recombination hotspots using sequencing-based detection of ssDNA.
Khil PP, Smagulova F, Brick KM, Camerini-Otero RD, Petukhova GV.
Genome Res (2012 May) 22:957-65. Abstract/Full Text
Genome-wide analysis reveals novel molecular features of mouse recombination hotspots.
Smagulova F, Gregoretti IV, Brick K, Khil P, Camerini-Otero RD, Petukhova GV.
Nature (2011 Apr 21) 472:375-8. Abstract/Full Text
The resistance of DMC1 D-loops to dissociation may account for the DMC1 requirement in meiosis.
Bugreev DV, Pezza RJ, Mazina OM, Voloshin ON, Camerini-Otero RD, Mazin AV.
Nat Struct Mol Biol (2011 Jan) 18:56-60. Abstract/Full Text
Hop2-Mnd1 condenses DNA to stimulate the synapsis phase of DNA strand exchange.
Pezza RJ, Camerini-Otero RD, Bianco PR.
Biophys J (2010 Dec 1) 99:3763-72. Abstract/Full Text
Mediation of CTCF transcriptional insulation by DEAD-box RNA-binding protein p68 and steroid receptor RNA activator SRA.
Yao H, Brick K, Evrard Y, Xiao T, Camerini-Otero RD, Felsenfeld G.
Genes Dev (2010 Nov 15) 24:2543-55. Abstract/Full Text
The expression profile of the major mouse SPO11 isoforms indicates that SPO11beta introduces double strand breaks and suggests that SPO11alpha has an additional role in prophase in both spermatocytes and oocytes.
Bellani MA, Boateng KA, McLeod D, Camerini-Otero RD.
Mol Cell Biol (2010 Sep) 30:4391-403. Abstract/Full Text
Genetic crossovers are predicted accurately by the computed human recombination map.
Khil PP, Camerini-Otero RD.
PLoS Genet (2010 Jan 29) 6:e1000831. Abstract/Full Text
Detecting sequence polymorphisms associated with meiotic recombination hotspots in the human genome.
Zheng J, Khil PP, Camerini-Otero RD, Przytycka TM.
Genome Biol (2010) 11:R103. Abstract/Full Text
BRCA1-mediated chromatin silencing is limited to oocytes with a small number of asynapsed chromosomes.
Kouznetsova A, Wang H, Bellani M, Camerini-Otero RD, Jessberger R, Höög C.
J Cell Sci (2009 Jul 15) 122:2446-52. Abstract/Full Text
FANCJ helicase uniquely senses oxidative base damage in either strand of duplex DNA and is stimulated by replication protein A to unwind the damaged DNA substrate in a strand-specific manner.
Suhasini AN, Sommers JA, Mason AC, Voloshin ON, Camerini-Otero RD, Wold MS, Brosh RM Jr.
J Biol Chem (2009 Jul 3) 284:18458-70. Abstract/Full Text
Reversibility, equilibration, and fidelity of strand exchange reaction between short oligonucleotides promoted by RecA protein from escherichia coli and human Rad51 and Dmc1 proteins.
Volodin AA, Bocharova TN, Smirnova EA, Camerini-Otero RD.
J Biol Chem (2009 Jan 16) 284:1495-504. Abstract/Full Text
Variation in patterns of human meiotic recombination.
Khil PP, Camerini-Otero RD.
Genome Dyn (2009) 5:117-127. Abstract/Full Text
Origins of new male germ-line functions from X-derived autosomal retrogenes in the mouse.
Shiao MS, Khil P, Camerini-Otero RD, Shiroishi T, Moriwaki K, Yu HT, Long M.
Mol Biol Evol (2007 Oct) 24:2242-53. Abstract/Full Text
Hop2/Mnd1 acts on two critical steps in Dmc1-promoted homologous pairing.
Pezza RJ, Voloshin ON, Vanevski F, Camerini-Otero RD.
Genes Dev (2007 Jul 15) 21:1758-66. Abstract/Full Text
The DinG protein from Escherichia coli is a structure-specific helicase.
Voloshin ON, Camerini-Otero RD.
J Biol Chem (2007 Jun 22) 282:18437-18447. Abstract/Full Text
A dominant, recombination-defective allele of Dmc1 causing male-specific sterility.
Bannister LA, Pezza RJ, Donaldson JR, de Rooij DG, Schimenti KJ, Camerini-Otero RD, Schimenti JC.
PLoS Biol (2007 May) 5:e105. Abstract/Full Text
Characterizing a rat Brca2 knockout model.
Cotroneo MS, Haag JD, Zan Y, Lopez CC, Thuwajit P, Petukhova GV, Camerini-Otero RD, Gendron-Fitzpatrick A, Griep AE, Murphy CJ, Dubielzig RR, Gould MN.
Oncogene (2007 Mar 8) 26:1626-35. Abstract/Full Text
Stimulation of fission yeast and mouse Hop2-Mnd1 of the Dmc1 and Rad51 recombinases.
Ploquin M, Petukhova GV, Morneau D, Déry U, Bransi A, Stasiak A, Camerini-Otero RD, Masson JY.
Nucleic Acids Res (2007) 35:2719-33. Abstract/Full Text
Mutations that affect meiosis in male mice influence the dynamics of the mid-preleptotene and bouquet stages.
Liebe B, Petukhova G, Barchi M, Bellani M, Braselmann H, Nakano T, Pandita TK, Jasin M, Fornace A, Meistrich ML, Baarends WM, Schimenti J, de Lange T, Keeney S, Camerini-Otero RD, Scherthan H.
Exp Cell Res (2006 Nov 15) 312:3768-81. Abstract/Full Text
Microarray analysis of differentially expressed genes after exposure of normal human fibroblasts to ionizing radiation from an external source and from DNA-incorporated iodine-125 radionuclide.
Sokolov MV, Smirnova NA, Camerini-Otero RD, Neumann RD, Panyutin IG.
Gene (2006 Nov 1) 382:47-56. Abstract/Full Text
Molecular activities of meiosis-specific proteins Hop2, Mnd1, and the Hop2-Mnd1 complex.
Pezza RJ, Petukhova GV, Ghirlando R, Camerini-Otero RD.
J Biol Chem (2006 Jul 7) 281:18426-34. Abstract/Full Text
Gene expression profiles of Spo11-/- mouse testes with spermatocytes arrested in meiotic prophase I.
Smirnova NA, Romanienko PJ, Khil PP, Camerini-Otero RD.
Reproduction (2006 Jul) 132:67-77. Abstract/Full Text
Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models.
Difilippantonio S, Celeste A, Fernandez-Capetillo O, Chen HT, Reina San Martin B, Van Laethem F, Yang YP, Petukhova GV, Eckhaus M, Feigenbaum L, Manova K, Kruhlak M, Camerini-Otero RD, Sharan S, Nussenzweig M, Nussenzweig A.
Nat Cell Biol (2005 Jul) 7:675-85. Abstract/Full Text
The Hop2 and Mnd1 proteins act in concert with Rad51 and Dmc1 in meiotic recombination.
Petukhova GV, Pezza RJ, Vanevski F, Ploquin M, Masson JY, Camerini-Otero RD.
Nat Struct Mol Biol (2005 May) 12:449-53. Abstract/Full Text
Homologous recombination and RecA protein: towards a new generation of tools for genome manipulations.
Volodin AA, Voloshin ON, Camerini-Otero RD.
Trends Biotechnol (2005 Feb) 23:97-102. Abstract/Full Text
X for intersection: retrotransposition both on and off the X chromosome is more frequent.
Khil PP, Oliver B, Camerini-Otero RD.
Trends Genet (2005 Jan) 21:3-7. Abstract/Full Text
Last Reviewed August 2023