Advantages of using the CRISPR/Cas9 system of genome editing to investigate male reproductive mechanisms using mouse models

Asian Journal of Andrology

Volumn 17, Issue 4, 2015, Pages 623-627

  Young, Samantha A M ^a,b   Aitken, R John ^a   Ikawa, Masahito ^b  

^a UNIVERSITY OF NEWCASTLE   (Australia)

^b OSAKA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL MODEL; BIOLOGY; CLUSTERED REGULARLY INTERSPACED SHORT PALINDROMIC REPEAT; GENE DISRUPTION; GENETICS; GENOME; MALE FERTILITY; MOUSE MODEL; ANIMAL; FERTILITY; GENETIC PROCEDURES; HUMAN; MALE; MALE INFERTILITY; MOUSE; PHYSIOLOGY; REPRODUCTION; TRENDS;

ANIMALS; CLUSTERED REGULARLY INTERSPACED SHORT PALINDROMIC REPEATS; FERTILITY; GENETIC TECHNIQUES; GENOME; HUMANS; INFERTILITY, MALE; MALE; MICE; REPRODUCTION;

EID: 84973442865     PISSN: 1008682X     EISSN: 17457262     Source Type: Journal    
DOI: 10.4103/1008-682X.153851     Document Type: Conference Paper

References (48)

1. Jamsai D, O'Bryan MK. Mouse models in male fertility research. Asian J Androl 2011; 13: 139-51.
2. Roy A, Matzuk MM. Deconstructing mammalian reproduction: using knockouts to define fertility pathways. Reproduction 2006; 131: 207-19.
3. Ikawa M, Inoue N, Benham AM, Okabe M. Fertilization: a sperm's journey to and interaction with the oocyte. J Clin Invest 2010; 120: 984-94.
4. Inoue N, Yamaguchi R, Ikawa M, Okabe M. Sperm-egg interaction and gene manipulated animals. Soc Reprod Fertil Suppl 2007; 65: 363-71.
5. Blume-Jensen P, Jiang G, Hyman R, Lee KF, O'Gorman S, et al. Kit/stem cell factor receptor-induced activation of phosphatidylinositol 3′-kinase is essential for male fertility. Nat Genet 2000; 24: 157-62.
6. Tanaka SS, Toyooka Y, Akasu R, Katoh-Fukui Y, Nakahara Y, et al. The mouse homolog of Drosophila vasa is required for the development of male germ cells. Genes Dev 2000; 14: 841-53.
7. Baudat F, Manova K, Yuen JP, Jasin M, Keeney S. Chromosome synapsis defects and sexually dimorphic meiotic progression in mice lacking Spo11. Mol Cell 2000; 6: 989-98.
8. Hayashi K, Yoshida K, Matsui Y. A histone H3 methyltransferase controls epigenetic events required for meiotic prophase. Nature 2005; 438: 374-8.
9. 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: 1699-707.
10. Chung JJ, Navarro B, Krapivinsky G, Krapivinsky L, Clapham DE. A novel gene required for male fertility and functional CATSPER channel formation in spermatozoa. Nat Commun 2011; 2: 153.
11. Aitken RJ, Nixon B. Sperm capacitation: a distant landscape glimpsed but unexplored. Mol Hum Reprod 2013; 19: 785-93.
12. Alasmari W, Costello S, Correia J, Oxenham SK, Morris J, et al. Ca2+ signals generated by CatSper and Ca2+ stores regulate different behaviors in human sperm. J Biol Chem 2013; 288: 6248-58.
13. Escalier D. Knockout mouse models of sperm flagellum anomalies. Hum Reprod Update 2006; 12: 449-61.
14. Vernon GG, Neesen J, Woolley DM. Further studies on knockout mice lacking a functional dynein heavy chain (MDHC7). 1. Evidence for a structural deficit in the axoneme. Cell Motil Cytoskeleton 2005; 61: 65-73.
15. Okabe M. Mechanism of fertilization: a modern view. Exp Anim 2014; 63: 357-65.
16. Fujihara Y, Okabe M, Ikawa M. GPI-anchored protein complex, LY6K/TEX101, is required for sperm migration into the oviduct and male fertility in mice. Biol Reprod 2014; 90: 60.
17. Inoue N, Ikawa M, Isotani A, Okabe M. The immunoglobulin superfamily protein Izumo is required for sperm to fuse with eggs. Nature 2005; 434: 234-8.
18. Bianchi E, Doe B, Goulding D, Wright GJ. Juno is the egg Izumo receptor and is essential for mammalian fertilization. Nature 2014; 508: 483-7.
19. Schultz N, Hamra FK, Garbers DL. A multitude of genes expressed solely in meiotic or postmeiotic spermatogenic cells offers a myriad of contraceptive targets. Proc Natl Acad Sci U S A 2003; 100: 12201-6.
20. Tamowski S, Aston KI, Carrell DT. The use of transgenic mouse models in the study of male infertility. Syst Biol Reprod Med 2010; 56: 260-73.
21. Wang H, Yang H, Shivalila CS, Dawlaty MM, Cheng AW, et al. One-step generation of mice carrying mutations in multiple genes by CRISPR/Cas-mediated genome engineering. Cell 2013; 153: 910-8.
22. Capecchi MR. Gene targeting in mice: functional analysis of the mammalian genome for the twenty-first century. Nat Rev Genet 2005; 6: 507-12.
23. Austin CP, Battey JF, Bradley A, Bucan M, Capecchi M, et al. The knockout mouse project. Nat Genet 2004; 36: 921-4.
24. Makarova KS, Haft DH, Barrangou R, Brouns SJ, Charpentier E, et al. Evolution and classification of the CRISPR-Cas systems. Nat Rev Microbiol 2011; 9: 467-77.
25. Qi LS, Larson MH, Gilbert LA, Doudna JA, Weissman JS, et al. Repurposing CRISPR as an RNA-guided platform for sequence-specific control of gene expression. Cell 2013; 152: 1173-83.
26. Gasiunas G, Barrangou R, Horvath P, Siksnys V. Cas9-crRNA ribonucleoprotein complex mediates specific DNA cleavage for adaptive immunity in bacteria. Proc Natl Acad Sci U S A 2012; 109: E2579-86.
27. Cong L, Ran FA, Cox D, Lin S, Barretto R, et al. Multiplex genome engineering using CRISPR/Cas systems. Science 2013; 339: 819-23.
28. Jinek M, Chylinski K, Fonfara I, Hauer M, Doudna JA, et al. A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity. Science 2012; 337: 816-21.
29. Mali P, Yang L, Esvelt KM, Aach J, Guell M, et al. RNA-guided human genome engineering via Cas9. Science 2013; 339: 823-6.
30. Garneau JE, Dupuis MÈ, Villion M, Romero DA, Barrangou R, et al. The CRISPR/Cas bacterial immune system cleaves bacteriophage and plasmid DNA. Nature 2010; 468: 67-71.
31. Mashiko D, Young SA, Muto M, Kato H, Nozawa K, et al. Feasibility for a large scale mouse mutagenesis by injecting CRISPR/Cas plasmid into zygotes. Dev Growth Differ 2014; 56: 122-9.
32. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, et al. A conditional knockout resource for the genome-wide study of mouse gene function. Nature 2011; 474: 337-42.
33. Menke DB. Engineering subtle targeted mutations into the mouse genome. Genesis 2013; 51: 605-18.
34. Mashiko D, Fujihara Y, Satouh Y, Miyata H, Isotani A, et al. Generation of mutant mice by pronuclear injection of circular plasmid expressing Cas9 and single guided RNA. Sci Rep 2013; 3: 3355.
35. Klinovska K, Sebkova N, Dvorakova-Hortova K. Sperm-egg fusion: a molecular enigma of mammalian reproduction. Int J Mol Sci 2014; 15: 10652-68.
36. Archambeault DR, Matzuk MM. Disrupting the male germ line to find infertility and contraception targets. Ann Endocrinol (Paris) 2014; 75: 101-8.
37. Yan C, Wang P, DeMayo J, DeMayo FJ, Elvin JA, et al. Synergistic roles of bone morphogenetic protein 15 and growth differentiation factor 9 in ovarian function. Mol Endocrinol 2001; 15: 854-66.
38. Baker MA, Hetherington L, Weinberg A, Naumovski N, Velkov T, et al. Analysis of phosphopeptide changes as spermatozoa acquire functional competence in the epididymis demonstrates changes in the post-translational modification of Izumo1. J Proteome Res 2012; 11: 5252-64.
39. Zhou J, Wang J, Shen B, Chen L, Su Y, et al. Dual sgRNAs facilitate CRISPR/Cas9-mediated mouse genome targeting. FEBS J 2014; 281: 1717-25.
40. Soriano P. Generalized lacZ expression with the ROSA26 Cre reporter strain. Nat Genet 1999; 21: 70-1.
41. Yang H, Wang H, Shivalila CS, Cheng AW, Shi L, et al. One-step generation of mice carrying reporter and conditional alleles by CRISPR/Cas-mediated genome engineering. Cell 2013; 154: 1370-9.
42. Lee AY, Lloyd KC. Conditional targeting of Ispd using paired Cas9 nickase and a single DNA template in mice. FEBS Open Bio 2014; 4: 637-42.
43. Ostrowski LE, Yin W, Rogers TD, Busalacchi KB, Chua M, et al. Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis. Am J Respir Cell Mol Biol 2010; 43: 55-63.
44. Young SA, Baker MA, Ikawa M. Genome editing in mice using CRISPR/Cas. In: Yamamoto T, editor. Targeted Genome Editing Using Engineered Nucleases: ZFNs, TALENs and the CRISPR/Cas9 System. Ch. 11. Tokyo: Springer Japan; 2015. p151-66.
45. Fu Y, Foden JA, Khayter C, Maeder ML, Reyon D, et al. High-frequency off-target mutagenesis induced by CRISPR-Cas nucleases in human cells. Nat Biotechnol 2013; 31: 822-6.
46. Fujii W, Kawasaki K, Sugiura K, Naito K. Efficient generation of large-scale genome-modified mice using gRNA and CAS9 endonuclease. Nucleic Acids Res 2013; 41: e187.
47. Gilbert LA, Larson MH, Morsut L, Liu Z, Brar GA, et al. CRISPR-mediated modular RNA-guided regulation of transcription in eukaryotes. Cell 2013; 154: 442-51.
48. Chen B, Gilbert LA, Cimini BA, Schnitzbauer J, Zhang W, et al. Dynamic imaging of genomic loci in living human cells by an optimized CRISPR/Cas system. Cell 2013; 155: 1479-91.