U.S. Department of Health and Human Services

Genetics and Biochemistry Branch

Rafael Daniel Camerini-Otero, M.D., Ph.D., Chief


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

Bernstein HD. Looks can be deceiving: recent insights into the mechanism of protein secretion by the autotransporter pathway. Mol Microbiol. 2015 Apr 17; 97 (2015 Apr 17; 2; 97):205-15. [Full Text/Abstract]
Wilson MM, Anderson DE, Bernstein HD. Analysis of the outer membrane proteome and secretome of Bacteroides fragilis reveals a multiplicity of secretion mechanisms. PLoS One. 2015 Feb 6; 10 (2; 10; 2015 Feb 6):e0117732. [Full Text/Abstract]
Roman-Hernandez G, Peterson JH, Bernstein HD. Reconstitution of bacterial autotransporter assembly using purified components. Elife. 2014 Sep 2; 3 (2014 Sep 2; 3). [Full Text/Abstract]
Broering TJ, Alavattam KG, Sadreyev RI, Ichijima Y, Kato Y, Hasegawa K, Camerini-Otero RD, Lee JT, Andreassen PR, Namekawa SH. BRCA1 establishes DNA damage signaling and pericentric heterochromatin of the X chromosome in male meiosis. J Cell Biol. 2014 Jun 9; 205 (205; 2014 Jun 9; 5):663-75. [Full Text/Abstract]
Moktan H, Guiraldelli MF, Eyster CA, Zhao W, Lee CY, Mather T, Camerini-Otero RD, Sung P, Zhou DH, Pezza RJ. Solution structure and DNA-binding properties of the winged helix domain of the meiotic recombination HOP2 protein. J Biol Chem. 2014 May 23; 289 (2014 May 23; 289; 21):14682-91. [Full Text/Abstract]
Pezza RJ, Voloshin ON, Volodin AA, Boateng KA, Bellani MA, Mazin AV, Camerini-Otero RD. The dual role of HOP2 in mammalian meiotic homologous recombination. Nucleic Acids Res. 2014 Feb; 42 (42; 4; 2014 Feb):2346-57. [Full Text/Abstract]
Margolin G, Khil PP, Kim J, Bellani MA, Camerini-Otero RD. Integrated transcriptome analysis of mouse spermatogenesis. BMC Genomics. 2014 Jan 18; 15 (15; 2014 Jan 18):39. [Full Text/Abstract]
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. Mechanistic insights into the role of Hop2-Mnd1 in meiotic homologous DNA pairing. Nucleic Acids Res. 2014 Jan; 42 (2; 2014 Jan; 42):906-17. [Full Text/Abstract]
Geng H, Hsieh P. Molecular Mechanisms and Functions of DNA Mismatch Repair. 2013; (2013). [Full Text/Abstract]
Kang'ethe W, Bernstein HD. Charge-dependent secretion of an intrinsically disordered protein via the autotransporter pathway. Proc Natl Acad Sci U S A. 2013 Nov 5; 110 (110; 2013 Nov 5; 45):E4246-55. [Full Text/Abstract]
Smagulova F, Brick K, Pu Y, Sengupta U, Camerini-Otero RD, Petukhova GV. Suppression of genetic recombination in the pseudoautosomal region and at subtelomeres in mice with a hypomorphic Spo11 allele. BMC Genomics. 2013 Jul 22; 14 (14; 2013 Jul 22):493. [Full Text/Abstract]
Pavlova O, Peterson JH, Ieva R, Bernstein HD. Mechanistic link between β barrel assembly and the initiation of autotransporter secretion. Proc Natl Acad Sci U S A. 2013 Mar 5; 110 (110; 10; 2013 Mar 5):E938-47. [Full Text/Abstract]
Boateng KA, Bellani MA, Gregoretti IV, Pratto F, Camerini-Otero RD. Homologous pairing preceding SPO11-mediated double-strand breaks in mice. Dev Cell. 2013 Jan 28; 24 (2; 24; 2013 Jan 28):196-205. [Full Text/Abstract]
Hsieh P. DNA Mismatch Repair in Disease and Ageing. 2013; 2 (2; 2013):60-65. [Full Text/Abstract]
Naumova AK, Fayer S, Leung J, Boateng KA, Camerini-Otero RD, Taketo T. Dynamics of response to asynapsis and meiotic silencing in spermatocytes from Robertsonian translocation carriers. PLoS One. 2013 Sep 16; 8 (8; 2013 Sep 16; 9):e75970. [Full Text/Abstract]
Bernstein HD. Cell biology: All clear for ribosome landing. Nature. 2012 Dec 13; 492 (492; 2012 Dec 13; 7428):189-91. [Full Text/Abstract]
Hsieh, P. DNA Mismatch Repair: Dr. Jekyll and Mr. Hyde?. Molecular Cell. 9/14/2012; 47 (9/14/2012; 5; 47):665-666. [Full Text/Abstract]
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. Rsx is a metatherian RNA with Xist-like properties in X-chromosome inactivation. Nature. 2012 Jul 12; 487 (7406; 487; 2012 Jul 12):254-8. [Full Text/Abstract]
Brick K, Smagulova F, Khil P, Camerini-Otero RD, Petukhova GV. Genetic recombination is directed away from functional genomic elements in mice. Nature. 2012 May 13; 485 (2012 May 13; 485; 7400):642-5. [Full Text/Abstract]
Khil PP, Smagulova F, Brick KM, Camerini-Otero RD, Petukhova GV. Sensitive mapping of recombination hotspots using sequencing-based detection of ssDNA. Genome Res. 2012 May; 22 (2012 May; 5; 22):957-65. [Full Text/Abstract]
Geng H, Sakato M, DeRocco V, Yamane K, Du C, Erie DA, Hingorani M, Hsieh P. Biochemical analysis of the human mismatch repair proteins hMutSα MSH2(G674A)-MSH6 and MSH2-MSH6(T1219D). J Biol Chem. 2012 Mar 23; 287 (287; 13; 2012 Mar 23):9777-91. [Full Text/Abstract]
Fukuda T, Pratto F, Schimenti JC, Turner JM, Camerini-Otero RD, Höög C. Phosphorylation of chromosome core components may serve as axis marks for the status of chromosomal events during mammalian meiosis. PLoS Genet. 2012 Feb; 8 (2012 Feb; 8; 2):e1002485. [Full Text/Abstract]
Diouf B, Cheng Q, Krynetskaia NF, Yang W, Cheok M, Pei D, Fan Y, Cheng C, Krynetskiy EY, Geng H, Chen S, Thierfelder WE, Mullighan CG, Downing JR, Hsieh P, Pui CH, Relling MV, Evans WE. Somatic deletions of genes regulating MSH2 protein stability cause DNA mismatch repair deficiency and drug resistance in human leukemia cells. Nat Med. 2011 Sep 25; 17 (17; 2011 Sep 25; 10):1298-303. [Full Text/Abstract]
Ieva R, Tian P, Peterson JH, Bernstein HD. Sequential and spatially restricted interactions of assembly factors with an autotransporter beta domain. Proc Natl Acad Sci U S A. 2011 Aug 2; 108 (108; 2011 Aug 2; 31):E383-91. [Full Text/Abstract]
Geng H, Du C, Chen S, Salerno V, Manfredi C, Hsieh P. In vitro studies of DNA mismatch repair proteins. Anal Biochem. 2011 Jun 15; 413 (2; 413; 2011 Jun 15):179-84. [Full Text/Abstract]
Ichijima Y, Ichijima M, Lou Z, Nussenzweig A, Camerini-Otero RD, Chen J, Andreassen PR, Namekawa SH. MDC1 directs chromosome-wide silencing of the sex chromosomes in male germ cells. Genes Dev. 2011 May 1; 25 (25; 9; 2011 May 1):959-71. [Full Text/Abstract]
Smagulova F, Gregoretti IV, Brick K, Khil P, Camerini-Otero RD, Petukhova GV. Genome-wide analysis reveals novel molecular features of mouse recombination hotspots. Nature. 2011 Apr 21; 472 (2011 Apr 21; 472; 7343):375-8. [Full Text/Abstract]
Bugreev DV, Pezza RJ, Mazina OM, Voloshin ON, Camerini-Otero RD, Mazin AV. The resistance of DMC1 D-loops to dissociation may account for the DMC1 requirement in meiosis. Nat Struct Mol Biol. 2011 Jan; 18 (2011 Jan; 1; 18):56-60. [Full Text/Abstract]
Pezza RJ, Camerini-Otero RD, Bianco PR. Hop2-Mnd1 condenses DNA to stimulate the synapsis phase of DNA strand exchange. Biophys J. 2010 Dec 1; 99 (99; 2010 Dec 1; 11):3763-72. [Full Text/Abstract]
Yao H, Brick K, Evrard Y, Xiao T, Camerini-Otero RD, Felsenfeld G. Mediation of CTCF transcriptional insulation by DEAD-box RNA-binding protein p68 and steroid receptor RNA activator SRA. Genes Dev. 2010 Nov 15; 24 (2010 Nov 15; 24; 22):2543-55. [Full Text/Abstract]
Peterson JH, Tian P, Ieva R, Dautin N, Bernstein HD. Secretion of a bacterial virulence factor is driven by the folding of a C-terminal segment. Proc Natl Acad Sci U S A. 2010 Oct 12; 107 (107; 2010 Oct 12; 41):17739-44. [Full Text/Abstract]
Peterson JH, Woolhead CA, Bernstein HD. The conformation of a nascent polypeptide inside the ribosome tunnel affects protein targeting and protein folding. Mol Microbiol. 2010 Oct; 78 (2010 Oct; 78; 1):203-17. [Full Text/Abstract]
Bellani MA, Boateng KA, McLeod D, Camerini-Otero RD. 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. Mol Cell Biol. 2010 Sep; 30 (30; 2010 Sep; 18):4391-403. [Full Text/Abstract]
Khil PP, Camerini-Otero RD. Genetic crossovers are predicted accurately by the computed human recombination map. PLoS Genet. 2010 Jan 29; 6 (2010 Jan 29; 6; 1):e1000831. [Full Text/Abstract]
Zheng J, Khil PP, Camerini-Otero RD, Przytycka TM. Detecting sequence polymorphisms associated with meiotic recombination hotspots in the human genome. Genome Biol. 2010; 11 (2010; 10; 11):R103. [Full Text/Abstract]
Ieva R, Bernstein HD. Interaction of an autotransporter passenger domain with BamA during its translocation across the bacterial outer membrane. Proc Natl Acad Sci U S A. 2009 Nov 10; 106 (106; 2009 Nov 10; 45):19120-5. [Full Text/Abstract]
Kouznetsova A, Wang H, Bellani M, Camerini-Otero RD, Jessberger R, Höög C. BRCA1-mediated chromatin silencing is limited to oocytes with a small number of asynapsed chromosomes. J Cell Sci. 2009 Jul 15; 122 (Pt 14; 2009 Jul 15; 122):2446-52. [Full Text/Abstract]
Suhasini AN, Sommers JA, Mason AC, Voloshin ON, Camerini-Otero RD, Wold MS, Brosh RM Jr. 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. J Biol Chem. 2009 Jul 3; 284 (2009 Jul 3; 284; 27):18458-70. [Full Text/Abstract]
Yap MN, Bernstein HD. The plasticity of a translation arrest motif yields insights into nascent polypeptide recognition inside the ribosome tunnel. Mol Cell. 2009 Apr 24; 34 (2; 2009 Apr 24; 34):201-11. [Full Text/Abstract]
Volodin AA, Bocharova TN, Smirnova EA, Camerini-Otero RD. Reversibility, equilibration, and fidelity of strand exchange reaction between short oligonucleotides promoted by RecA protein from escherichia coli and human Rad51 and Dmc1 proteins. J Biol Chem. 2009 Jan 16; 284 (2009 Jan 16; 284; 3):1495-504. [Full Text/Abstract]
Khil PP, Camerini-Otero RD. Variation in patterns of human meiotic recombination. Genome Dyn. 2009; 5 (2009; 5):117-27. [Full Text/Abstract]
Tessmer I, Yang Y, Zhai J, Du C, Hsieh P, Hingorani MM, Erie DA. Mechanism of MutS searching for DNA mismatches and signaling repair. J Biol Chem. 2008 Dec 26; 283 (2008 Dec 26; 283; 52):36646-54. [Full Text/Abstract]
Liu A, Yoshioka K, Salerno V, Hsieh P. The mismatch repair-mediated cell cycle checkpoint response to fluorodeoxyuridine. J Cell Biochem. 2008 Sep 1; 105 (105; 1; 2008 Sep 1):245-54. [Full Text/Abstract]
Usdin TB, Paciga M, Riordan T, Kuo J, Parmelee A, Petukova G, Camerini-Otero RD, Mezey E. Tuberoinfundibular Peptide of 39 residues is required for germ cell development. Endocrinology. 2008 Sep; 149 (149; 9; 2008 Sep):4292-300. [Full Text/Abstract]
Hsieh P, Yamane K. DNA mismatch repair: molecular mechanism, cancer, and ageing. Mech Ageing Dev. 2008 Jul-Aug; 129 (2008 Jul-Aug; 129; 7-8):391-407. [Full Text/Abstract]
Ieva R, Skillman KM, Bernstein HD. Incorporation of a polypeptide segment into the beta-domain pore during the assembly of a bacterial autotransporter. Mol Microbiol. 2008 Jan; 67 (2008 Jan; 67; 1):188-201. [Full Text/Abstract]
Barnard TJ, Dautin N, Lukacik P, Bernstein HD, Buchanan SK. Autotransporter structure reveals intra-barrel cleavage followed by conformational changes. Nat Struct Mol Biol. 2007 Dec; 14 (14; 2007 Dec; 12):1214-20. [Full Text/Abstract]
Shiao MS, Khil P, Camerini-Otero RD, Shiroishi T, Moriwaki K, Yu HT, Long M. Origins of new male germ-line functions from X-derived autosomal retrogenes in the mouse. Mol Biol Evol. 2007 Oct; 24 (2007 Oct; 10; 24):2242-53. [Full Text/Abstract]
Pezza RJ, Voloshin ON, Vanevski F, Camerini-Otero RD. Hop2/Mnd1 acts on two critical steps in Dmc1-promoted homologous pairing. Genes Dev. 2007 Jul 15; 21 (2007 Jul 15; 14; 21):1758-66. [Full Text/Abstract]
Voloshin ON, Camerini-Otero RD. The DinG protein from Escherichia coli is a structure-specific helicase. J Biol Chem. 2007 Jun 22; 282 (25; 2007 Jun 22; 282):18437-47. [Full Text/Abstract]
Bannister LA, Pezza RJ, Donaldson JR, de Rooij DG, Schimenti KJ, Camerini-Otero RD, Schimenti JC. A dominant, recombination-defective allele of Dmc1 causing male-specific sterility. PLoS Biol. 2007 May; 5 (2007 May; 5):e105. [Full Text/Abstract]
Dautin N, Barnard TJ, Anderson DE, Bernstein HD. Cleavage of a bacterial autotransporter by an evolutionarily convergent autocatalytic mechanism. EMBO J. 2007 Apr 4; 26 (2007 Apr 4; 7; 26):1942-52. [Full Text/Abstract]