Meiotic genetics moves forward with SPATA22 (repro42)

Biology of Reproduction

Volumn 86, Issue 2, 2012, Pages

  Buchold, Gregory M ^a  

^a NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; DNA REPAIR; FEMALE FERTILITY; FERTILIZATION IN VITRO; GENE; GENE DELETION; GENETIC ANALYSIS; GENOME; HUMAN; MALE INFERTILITY; MEIOSIS; MUTAGENESIS; MUTATIONAL ANALYSIS; NONHUMAN; NOTE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; REPRODUCTION; SERTOLI CELL; SPATA22 GENE; SPERMATOGENESIS; ANIMAL; FEMALE; GENETICS; MALE; OOCYTE; OOCYTE DEVELOPMENT; PHYSIOLOGY; SPERMATOCYTE;

PROTEIN;

ANIMALS; FEMALE; MALE; MEIOSIS; OOCYTES; OOGENESIS; PROTEINS; SPERMATOCYTES; SPERMATOGENESIS;

EID: 84860238860     PISSN: 00063363     EISSN: 15297268     Source Type: Journal    
DOI: 10.1095/biolreprod.111.097436     Document Type: Note

References (50)

1. Lessard C, Pendola JK, Hartford SA, Schimenti JC, Handel MA, Eppig JJ. New mouse genetic models for human contraceptive development. Cytogenet Genome Res 2004; 105:222-227.
2. Handel MA, Lessard C, Reinholdt L, Schimenti J, Eppig JJ. Mutagenesis as an unbiased approach to identify novel contraceptive targets. Mol Cell Endocrinol 2006; 250:201-205.
3. Sun F, Handel MAA. Mutation in Mtap2 is associated with arrest of mammalian spermatocytes before the first meiotic division. Genes 2011; 2:21-35.
4. Philipps DL, Wigglesworth K, Hartford SA, Sun F, Pattabiraman S, Schimenti K, Handel M, Eppig JJ, Schimenti JC. The dual bromodomain and WD repeat-containing mouse protein BRWD1 is required for normal spermiogenesis and the oocyte-embryo transition. Dev Biol 2008; 317:72-82.
5. Geyer CB, Inselman AL, Sunman JA, Bornstein S, Handel MA, Eddy EM. A missense mutation in the Capza3 gene and disruption of F-actin organization in spermatids of repro32 infertile male mice. Dev Biol 2009; 330:142-152.
6. Sun F, Palmer K, Handel MA. Mutation of Eif4g3, encoding a eukaryotic translation initiation factor, causes male infertility and meiotic arrest of mouse spermatocytes. Development 2010; 137:1699-1707.
7. Bolcun-Filas E, Bannister LA, Barash A, Schimenti KJ, Hartford SA, Eppig JJ, Handel MA, Shen L, Schimenti JC. A-MYB (MYBL1) transcription factor is a master regulator of male meiosis. Development 2011; 138:3319-3330.
8. Akiyama K, Akimaru S, Asano Y, Khalaj M, Kiyosu C, Masoudi AA, Takahashi S, Katayama K, Tsuji T, Noguchi J, Kunieda T. A new ENUinduced mutant mouse with defective spermatogenesis caused by a nonsense mutation of the syntaxin 2/epimorphin (Stx2/Epim) gene. J Reprod Dev 2008; 54:122-128.
9. La Salle S, Palmer K, O'Brien M, Schimenti J, Eppig J, Handel MA. Spata22, a novel vertebrate-specific gene, is required for meiotic progress in mouse germ cells. Biol Reprod 2012; 86:45, 1-12. doi: 10.1095/biolreprod.111.095752
10. Lessard C, Lothrop H, Schimenti JC, Handel MA. Mutagenesis-generated mouse models of human infertility with abnormal sperm. Hum Reprod 2007; 22:159-166.
11. Khalaj M, Abbasi AR, Nishimura R, Akiyama K, Tsuji T, Noguchi J, Okuda K, Kunieda T. Leydig cell hyperplasia in an ENU-induced mutant mouse with germ cell depletion. J Reprod Dev 2008; 54:225-228.
12. Asano Y, Akiyama K, Tsuji T, Takahashi S, Noguchi J, Kunieda T. Characterization and linkage mapping of an ENU-induced mutant mouse with defective spermatogenesis. Exp Anim 2009; 58:525-532.
13. Kumar R, Bourbon HM, de Massy B. Functional conservation of Mei4 for meiotic DNA double-strand break formation from yeasts to mice. Genes Dev 2010; 24:1266-1280.
14. Horie S, Watanabe Y, Tanaka K, Nishiwaki S, Fujioka H, Abe H, Yamamoto M, Shimoda C. The Schizosaccharomyces pombe mei4{thorn} gene encodes a meiosis-specific transcription factor containing a forkhead DNA-binding domain. Mol Cell Biol 1998; 18:2118-2129.
15. Ward JO, Reinholdt LG, Motley WW, Niswander LM, Deacon DC, Griffin LB, Langlais KK, Backus VL, Schimenti KJ, O'Brien MJ, Eppig JJ, Schimenti JC. Mutation in mouse hei10, an e3 ubiquitin ligase, disrupts meiotic crossing over. PLoS Genet 2007; 3:e139.
16. Whitney MA, Royle G, Low MJ, Kelly MA, Axthelm MK, Reifsteck C, Olson S, Braun RE, Heinrich MC, Rathbun RK, Bagby GC, Grompe M. Germ cell defects and hematopoietic hypersensitivity to gamma-interferon in mice with a targeted disruption of the Fanconi anemia C gene. Blood 1996; 88:49-58.
17. Cheng NC, van de Vrugt HJ, van der Valk MA, Oostra AB, Krimpenfort P, de Vries Y, Joenje H, Berns A, Arwert F. Mice with a targeted disruption of the Fanconi anemia homolog Fanca. Hum Mol Genet 2000; 9:1805-1811.
18. Yang Y, Kuang Y, Montes De Oca R, Hays T, Moreau L, Lu N, Seed B, D'Andrea AD. Targeted disruption of the murine Fanconi anemia gene, Fancg/Xrcc9. Blood 2001; 98:3435-3440.
19. Koomen M, Cheng NC, van de Vrugt HJ, Godthelp BC, van der Valk MA, Oostra AB, Zdzienicka MZ, Joenje H, Arwert F. Reduced fertility and hypersensitivity to mitomycin C characterize Fancg/Xrcc9 null mice. Hum Mol Genet 2002; 11:273-281.
20. Wong JC, Alon N, McKerlie C, Huang JR, Meyn MS, Buchwald M. Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia. Hum Mol Genet 2003; 12:2063-2076.
21. Zhao QG, Lu BS, Huang PT. Functions of FANCL in primordial germ cell formation and Fanconi anemia [in Chinese]. Yi Chuan Xue Bao 2005; 32:993-1000.
22. Bakker ST, van de Vrugt HJ, Visser JA, Delzenne-Goette E, van der Wal A, Berns MA, van de Ven M, Oostra AB, Vries SD, Kramer P, Arwert F, van der Valk M, et al. Fancf-deficient mice are prone to develop ovarian tumors. J Pathol 2012; 226:28-39.
23. Sharan SK, Pyle A, Coppola V, Babus J, Swaminathan S, Benedict J, Swing D, Martin BK, Tessarollo L, Evans JP, Flaws JA, Handel MA. BRCA2 deficiency in mice leads to meiotic impairment and infertility. Development 2004; 131:131-142.
24. Lange J, Pan J, Cole F, Thelen M, Jasin M, Keeney S. ATM controls meiotic double-strand-break formation. Nature 2011; 479:237-240.
25. Holloway JK, Mohan S, Balmus G, Sun X, Modzelewski A, Borst PL, Freire R, Weiss RS, Cohen PE. Mammalian BTBD12 (SLX4) protects against genomic instability during mammalian spermatogenesis. PLoS Genet 2011; 7:e1002094.
26. Theunissen JW, Kaplan MI, Hunt PA, Williams BR, Ferguson DO, Alt FW, Petrini JH. Checkpoint failure and chromosomal instability without lymphomagenesis in Mre11(ATLD1/ATLD1) mice. Mol Cell 2003; 12:1511-1523.
27. Kang J, Bronson RT, Xu Y. Targeted disruption of NBS1 reveals its roles in mouse development and DNA repair. EMBO J 2002; 21:1447-1455.
28. Cherry SM, Adelman CA, Theunissen JW, Hassold TJ, Hunt PA, Petrini JH. The Mre11 complex influences DNA repair, synapsis, and crossing over in murine meiosis. Curr Biol 2007; 17:373-378.
29. Kneitz B, Cohen PE, Avdievich E, Zhu L, Kane MF, Hou H Jr, Kolodner RD, Kucherlapati R, Pollard JW, Edelmann W. MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice. Genes Dev 2000; 14:1085-1097.
30. Edelmann W, Cohen PE, Kneitz B, Winand N, Lia M, Heyer J, Kolodner R, Pollard JW, Kucherlapati R. Mammalian MutS homologue 5 is required for chromosome pairing in meiosis. Nat Genet 1999; 21:123-127.
31. de Vries SS, Baart EB, Dekker M, Siezen A, de Rooij DG, de Boer P, te Riele H. Mouse MutS-like protein Msh5 is required for proper chromosome synapsis in male and female meiosis. Genes Dev 1999; 13:523-531.
32. Edelmann W, Cohen PE, Kane M, Lau K, Morrow B, Bennett S, Umar A, Kunkel T, Cattoretti G, Chaganti R, Pollard JW, Kolodner RD, et al. Meiotic pachytene arrest in MLH1-deficient mice. Cell 1996; 85:1125-1134.
33. Lipkin SM, Moens PB, Wang V, Lenzi M, Shanmugarajah D, Gilgeous A, Thomas J, Cheng J, Touchman JW, Green ED, Schwartzberg P, Collins FS, et al. Meiotic arrest and aneuploidy in MLH3-deficient mice. Nat Genet 2002; 31:385-390.
34. Baker SM, Bronner CE, Zhang L, Plug AW, Robatzek M, Warren G, Elliott EA, Yu J, Ashley T, Arnheim N, Flavell RA, Liskay RM. Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis. Cell 1995; 82:309-319.
35. de Vries FA, de Boer E, van den Bosch M, Baarends WM, Ooms M, Yuan L, Liu JG, van Zeeland AA, Heyting C, Pastink A. Mouse Sycp1 functions in synaptonemal complex assembly, meiotic recombination, and XY body formation. Genes Dev 2005; 19:1376-1389.
36. Kouznetsova A, Novak I, Jessberger R, Hoog C. SYCP2 and SYCP3 are required for cohesin core integrity at diplotene but not for centromere cohesion at the first meiotic division. J Cell Sci 2005; 118:2271-2278.
37. Yang F, De La Fuente R, Leu NA, Baumann C, McLaughlin KJ, Wang PJ. Mouse SYCP2 is required for synaptonemal complex assembly and chromosomal synapsis during male meiosis. J Cell Biol 2006; 173:497-507.
38. Yuan L, Liu JG, Zhao J, Brundell E, Daneholt B, Hoog C. The murine SCP3 gene is required for synaptonemal complex assembly, chromosome synapsis, and male fertility. Mol Cell 2000; 5:73-83.
39. Bolcun-Filas E, Hall E, Speed R, Taggart M, Grey C, de Massy B, Benavente R, Cooke HJ. Mutation of the mouse Syce1 gene disrupts synapsis and suggests a link between synaptonemal complex structural components and DNA repair. PLoS Genet 2009; 5:e1000393.
40. Bolcun-Filas E, Costa Y, Speed R, Taggart M, Benavente R, De Rooij DG, Cooke HJ. SYCE2 is required for synaptonemal complex assembly, double strand break repair, and homologous recombination. J Cell Biol 2007; 176:741-747.
41. Schramm S, Fraune J, Naumann R, Hernandez-Hernandez A, Hoog C, Cooke HJ, Alsheimer M, Benavente R. A novel mouse synaptonemal complex protein is essential for loading of central element proteins, recombination, and fertility. PLoS Genet 2011; 7:e1002088.
42. Hamer G, Wang H, Bolcun-Filas E, Cooke HJ, Benavente R, Hoog C. Progression of meiotic recombination requires structural maturation of the central element of the synaptonemal complex. J Cell Sci 2008; 121:2445-2451.
43. Crackower MA, Kolas NK, Noguchi J, Sarao R, Kikuchi K, Kaneko H, Kobayashi E, Kawai Y, Kozieradzki I, Landers R, Mo R, Hui CC, et al. Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis. Science 2003; 300:1291-1295.
44. Yang F, Eckardt S, Leu NA, McLaughlin KJ, Wang PJ. Mouse TEX15 is essential for DNA double-strand break repair and chromosomal synapsis during male meiosis. J Cell Biol 2008; 180:673-679.
45. Grelon M, Gendrot G, Vezon D, Pelletier G. The Arabidopsis MEI1 gene encodes a protein with five BRCT domains that is involved in meiosisspecific DNA repair events independent of SPO11-induced DSBs. Plant J 2003; 35:465-475.
46. Jeon Y, Ko E, Lee KY, Ko MJ, Park SY, Kang J, Jeon CH, Lee H, Hwang DS. TopBP1 deficiency causes an early embryonic lethality and induces cellular senescence in primary cells. J Biol Chem 2011; 286:5414-5422.
47. Libby BJ, De La Fuente R, O'Brien MJ, Wigglesworth K, Cobb J, Inselman A, Eaker S, Handel MA, Eppig JJ, Schimenti JC. The mouse meiotic mutation mei1 disrupts chromosome synapsis with sexually dimorphic consequences for meiotic progression. Dev Biol 2002; 242:174-187.
48. Yang F, Gell K, van der Heijden GW, Eckardt S, Leu NA, Page DC, Benavente R, Her C, Hoog C, McLaughlin KJ, Wang PJ. Meiotic failure in male mice lacking an X-linked factor. Genes Dev 2008; 22:682-691.
49. Li XC, Schimenti JC. Mouse pachytene checkpoint 2 (trip13) is required for completing meiotic recombination but not synapsis. PLoS Genet 2007; 3:e130.
50. Li XC, Bolcun-Filas E, Schimenti JC. Genetic evidence that synaptonemal complex axial elements govern recombination pathway choice in mice. Genetics 2011; 189:71-82.