Mouse models for identifying genes modulating fertility parameters

Animal

Volumn 3, Issue 1, 2009, Pages 55-71

  Laissue, P ^a,b   L'Hote D ^a,b   Serres, C ^a,b   Vaiman, D ^a,b,c  

^a INSTITUT COCHIN   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c Institut National de la Recherche Agronomique   (France)

Author keywords

Cattle; Fertility; Gametogenesis; Humans; Mice

Indexed keywords

BOS; MAMMALIA; MUS;

EID: 57649129465     PISSN: 17517311     EISSN: 1751732X     Source Type: Journal    
DOI: 10.1017/S1751731108003315     Document Type: Review

References (96)

1. Ashwell MS, Heyen DW, Sonstegard TS, Van Tassell CP, Da Y, VanRaden PM, Ron M, Weller JI and Lewin HA 2004. Detection of quantitative trait loci affecting milk production, health, and reproductive traits in Holstein cattle. Journal of Dairy Science 87, 468-475.
2. Atchison FW, Capel B and Means AR 2003. Pin1 regulates the timing of mammalian primordial germ cell proliferation. Development (Cambridge, England) 130, 3579-3586.
3. Ballow D, Meistrich ML, Matzuk M and Rajkovic A 2006. Sohlh1 is essential for spermatogonial differentiation. Developmental Biology 294, 161-167.
4. Behringer RR, Finegold MJ and Cate RL 1994. Mullerian-inhibiting substance function during mammalian sexual development. Cell 79, 415-425.
5. Bergmann JA and Hohenboken WD 1992. Prediction of fertility from calfhood traits of Angus and Simmental heifers. Journal of Animal Science 70, 2611-2621.
6. Beverdam A and Koopman P 2006. Expression profiling of purified mouse gonadal somatic cells during the critical time window of sex determination reveals novel candidate genes for human sexual dysgenesis syndromes. Human Molecular Genetics 15, 417-431.
7. Boichard D, Grohs C, Bourgeois F, Cerqueira F, Faugeras R, Neau A, Rupp R, Amigues Y, Boscher MY and Leveziel H 2003. Detection of genes influencing economic traits in three French dairy cattle breeds. Genetics Selection Evolution 35, 77-101.
8. Bolor H, Wakasugi N, Zhao WD and Ishikawa A 2006. Detection of quantitative trait loci causing abnormal spermatogenesis and reduced testis weight in the small testis (Smt) mutant mouse. Experimental Animals 55, 97-108.
9. Bormann JM, Totir LR, Kachman SD, Fernando RL and Wilson DE 2006. Pregnancy rate and first-service conception rate in Angus heifers. Journal of Animal Science 84, 2022-2025.
10. Brockmann GA and Bevova MR 2002. Using mouse models to dissect the genetics of obesity. Trends in Genetics 18, 367-376.
11. Buaas FW, Kirsh AL, Sharma M, McLean DJ, Morris JL, Griswold MD, de Rooij DG and Braun RE 2004. Plzf is required in adult male germ cells for stem cell self-renewal. Nature Genetics 36, 647-652.
12. Burgio G, Szatanik M, Guenet JL, Arnau MR, Panthier JJ and Montagutelli X 2007. Interspecific recombinant congenic strains between C57BL/6 and mice of the Mus spretus species: a powerful tool to dissect genetic control of complex traits. Genetics 177, 2321-2333.
13. Cederroth CR, Pitetti JL, Papaioannou MD and Nef S 2007. Genetic programs that regulate testicular and ovarian development. Molecular and Cellular Endocrinology 265-266, 3-9.
14. Chang C, Chen YT, Yeh SD, Xu Q, Wang RS, Guillou F, Lardy H and Yeh S 2004. Infertility with defective spermatogenesis and hypotestosteronemia in male mice lacking the androgen receptor in Sertoli cells. Proceedings of the National Academy of Sciences USA 101, 6876-6881.
15. Chang H and Matzuk MM 2001. Smad5 is required for mouse primordial germ cell development. Mechanisms of Development 104, 61-67.
16. Chu DS, Liu H, Nix P, Wu TF, Ralston EJ, Yates JR III and Meyer BJ 2006. Sperm chromatin proteomics identifies evolutionarily conserved fertility factors. Nature 443, 101-105.
17. Chubb C and Nolan C 1987. Mouse hybrid sterility and testicular function. Biology of Reproduction 36, 1343-1348.
18. Cram DS, Ma K, Bhasin S, Arias J, Pandjaitan M, Chu B, Audrins MS, Saunders D, Quinn F, deKretser D and McLachlan R 2000. Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: vertical transmission of deletions and rarity of de novo deletions. Fertility and Sterility 74, 909-915.
19. De Gendt K, Atanassova N, Tan KA, de Franca LR, Parreira GG, McKinnell C, Sharpe RM, Saunders PT, Mason JI, Hartung S, Ivell R, Denolet E and Verhoeven G 2005. Development and function of the adult generation of Leydig cells in mice with Sertoli cell-selective or total ablation of the androgen receptor. Endocrinology 146, 4117-4126.
20. de Sousa Lopes SM, Roelen BA, Monteiro RM, Emmens R, Lin HY, Li E, Lawson KA and Mummery CL 2004. BMP signaling mediated by ALK2 in the visceral endoderm is necessary for the generation of primordial germ cells in the mouse embryo. Genes and Development 18, 1838-1849.
21. Dierich A, Sairam MR, Monaco L, Fimia GM, Gansmuller A, LeMeur M and Sassone-Corsi P 1998. Impairing follicle-stimulating hormone (FSH) signaling in vivo: targeted disruption of the FSH receptor leads to aberrant gametogenesis and hormonal imbalance. Proceedings of the National Academy of Sciences USA 95, 13612-13617.
22. Dong J, Albertini DF, Nishimori K, Kumar TR, Lu N and Matzuk MM 1996. Growth differentiation factor-9 is required during early ovarian folliculogenesis. Nature 383, 531-535.
23. Donovan PJ and Reed SI 2003. Germline exclusion of Cks1 in the mouse reveals a metaphase I role for Cks proteins in male and female meiosis. Cell Cycle 2, 275-276.
24. Dupont S, Krust A, Gansmuller A, Dierich A, Chambon P and Mark M 2000. Effect of single and compound knockouts of estrogen receptors alpha (ERalpha) and beta (ERbeta) on mouse reproductive phenotypes. Development (Cambridge, England) 127, 4277-4291.
25. Farini D, Scaldaferri ML, Iona S, La Sala G and De Felici M 2005. Growth factors sustain primordial germ cell survival, proliferation and entering into meiosis in the absence of somatic cells. Developmental Biology 285, 49-56.
26. Feng HL 2003. Molecular biology of male infertility. Archives of Andrology 49, 19-27.
27. Forbes A and Lehmann R 1998. Nanos and Pumilio have critical roles in the development and function of Drosophila germline stem cells. Development (Cambridge, England) 125, 679-690.
28. Furnes B and Schimenti J 2007. Fast forward to new genes in mammalian reproduction. Journal of Physiology 578, 25-32.
29. Galloway SM, McNatty KP, Cambridge LM, Laitinen MP, Juengel JL, Jokiranta TS, McLaren RJ, Luiro K, Dodds KG, Montgomery GW, Beattie AE, Davis GH and Ritvos O 2000. Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner. Nature Genetics 25, 279-283.
30. Garcia-Ispierto I, Lopez-Gatius F, Santolaria P, Yaniz JL, Nogareda C and Lopez-Bejar M 2007. Factors affecting the fertility of high producing dairy herds in northeastern Spain. Theriogenology 67, 632-638.
31. Giudice LC 2003. Elucidating endometrial function in the post-genomic era. Human Reproduction Update 9, 223-235.
32. Guenet JL and Bonhomme F 2003. Wild mice: an ever-increasing contribution to a popular mammalian model. Trends in Genetics 19, 24-31.
33. Guillaume F, Gautier M, Ben Jemaa S, Fritz S, Eggen A, Boichard D and Druet T 2007. Refinement of two female fertility QTL using alternative phenotypes in French Holstein dairy cattle. Animal Genetics 38, 72-74.
34. Hale DW, Washburn LL and Eicher EM 1993. Meiotic abnormalities in hybrid mice of the C57BL/6J x Mus spretus cross suggest a cytogenetic basis for Haldane's rule of hybrid sterility. Cytogenetics and Cell Genetics 63, 221-234.
35. Holmberg M and Andersson-Eklund L 2006. Quantitative trait loci affecting fertility and calving traits in Swedish dairy cattle. Journal of Dairy Science 89, 3664-3671.
36. Holmberg M, Sahana G and Andersson-Eklund L 2007. Fine mapping of a quantitative trait locus on chromosome 9 affecting non-return rate in Swedish dairy cattle. Journal of Animal Breeding and Genetics 124, 257-263.
37. Holt JE, Jackson A, Roman SD, Aitken RJ, Koopman P and McLaughlin EA 2006. CXCR4/SDF1 interaction inhibits the primordial to primary follicle transition in the neonatal mouse ovary. Developmental Biology 293, 449-460.
38. Hu YC, Wang PH, Yeh S, Wang RS, Xie C, Xu Q, Zhou X, Chao HT, Tsai MY and Chang C 2004. Subfertility and defective folliculogenesis in female mice lacking androgen receptor. Proceedings of the National Academy of Sciences USA 101, 11209-11214.
39. Jamin SP, Arango NA, Mishina Y, Hanks MC and Behringer RR 2002. Requirement of Bmpr1a for Mullerian duct regression during male sexual development. Nature Genetics 32, 408-410.
40. Jamrozik J, Fatehi J, Kistemaker GJ and Schaeffer LR 2005. Estimates of genetic parameters for Canadian Holstein female reproduction traits. Journal of Dairy Science 88, 2199-2208.
41. Jin J, Jin N, Zheng H, Ro S, Tafolla D, Sanders KM and Yan W 2007. Catsper3 and Catsper4 are essential for sperm hyperactivated motility and male fertility in the mouse. Biology of Reproduction 77, 37-44.
42. Kirkpatrick BW, Byla BM and Gregory KE 2000. Mapping quantitative trait loci for bovine ovulation rate. Mammalian Genome 11, 136-139.
43. Koopman P 1999. Sry and Sox9: mammalian testis-determining genes. Cellular and Molecular Life Science 55, 839-856.
44. Krewson TD, Supelak PJ, Hill AE, Singer JB, Lander ES, Nadeau JH and Palmert MR 2004. Chromosomes 6 and 13 harbor genes that regulate pubertal timing in mouse chromosome substitution strains. Endocrinology 145, 4447-4451.
45. Kumar TR, Wang Y, Lu N and Matzuk MM 1997. Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility. Nature Genetics 15, 201-204.
46. L'Hote D, Serres C, Laissue P, Oulmouden A, Rogel-Gaillard C, Montagutelli X and Vaiman D 2007. Centimorgan-range one-step mapping of fertility traits using interspecific recombinant congenic mice. Genetics 176, 1907-1921.
47. Laissue P, Burgio G, L'Hôte D, Renault G, Marchiol-Fournigault C, Fradelizi D, Fellous M, Serres C, Montagutelli X, Monget P and Vaiman D 2008. An in vivo approach of the embryonic development in an interspecific recombinant congenic mice model reveals QTL responsible for embryonic lethality and resorption. International Journal of Developmental Biology (in press).
48. Lawson KA, Dunn NR, Roelen BA, Zeinstra LM, Davis AM, Wright CV, Korving JP and Hogan BL 1999. Bmp4 is required for the generation of primordial germ cells in the mouse embryo. Genes and Development 13, 424-436.
49. Le Roy I, Tordjman S, Migliore-Samour D, Degrelle H and Roubertoux PL 2001. Genetic architecture of testis and seminal vesicle weights in mice. Genetics 158, 333-340.
50. Lien S, Karlsen A, Klemetsdal G, Vage DI, Olsaker I, Klungland H, Aasland M, Heringstad B, Ruane J and Gomez-Raya L 2000. A primary screen of the bovine genome for quantitative trait loci affecting twinning rate. Mammalian Genome 11, 877-882.
51. Liljander M, Sallstrom MA, Andersson S, Wernhoff P, Andersson A, Holmdahl R and Mattsson R 2006. Identification of genetic regions of importance for reproductive performance in female mice. Genetics 173, 901-909.
52. Lopez-Gatius F, Garcia-Ispierto I, Santolaria P, Yaniz J, Nogareda C and Lopez-Bejar M 2006. Screening for high fertility in high-producing dairy cows. Theriogenology 65, 1678-1689.
53. Lubahn DB, Moyer JS, Golding TS, Couse JF, Korach KS and Smithies O 1993. Alteration of reproductive function but not prenatal sexual development after insertional disruption of the mouse estrogen receptor gene. Proceedings of the National Academy of Sciences USA 90, 11162-11166.
54. Mason AJ, Pitts SL, Nikolics K, Szonyi E, Wilcox JN, Seeburg PH and Stewart TA 1986. The hypogonadal mouse: reproductive functions restored by gene therapy. Science 234, 1372-1378.
55. Matsuda Y and Chapman VM 1991. In situ analysis of centromeric satellite DNA segregating in Mus species crosses. Mammalian Genome 1, 71-77.
56. Matsuda Y, Moens PB and Chapman VM 1992. Deficiency of X and Y chromosomal pairing at meiotic prophase in spermatocytes of sterile interspecific hybrids between laboratory mice (Mus domesticus) and Mus spretus. Chromosoma 101, 483-492.
57. Meschede D, Lemcke B, Behre HM, De Geyter C, Nieschlag E and Horst J 2000. Clustering of male infertility in the families of couples treated with intracytoplasmic sperm injection. Human Reproduction 15, 1604-1608.
58. Molyneaux KA, Zinszner H, Kunwar PS, Schaible K, Stebler J, Sunshine MJ, O'Brien W, Raz E, Littman D, Wylie C and Lehmann R 2003. The chemokine SDF1/CXCL12 and its receptor CXCR4 regulate mouse germ cell migration and survival. Development (Cambridge, England) 130, 4279-4286.
59. Mulsant P, Lecerf F, Fabre S, Schibler L, Monget P, Lanneluc I, Pisselet C, Riquet J, Monniaux D, Callebaut I, Cribiu E, Thimonier J, Teyssier J, Bodin L, Cognie Y, Chitour N and Elsen JM 2001. Mutation in bone morphogenetic protein receptor-IB is associated with increased ovulation rate in Booroola Merino ewes. Proceedings of the National Academy of Sciences USA 98, 5104-5109.
60. Neesen J, Kirschner R, Ochs M, Schmiedl A, Habermann B, Mueller C, Holstein AF, Nuesslein T, Adham I and Engel W 2001. Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency. Human Molecular Genetics 10, 1117-1128.
61. Nef S, Schaad O, Stallings NR, Cederroth CR, Pitetti JL, Schaer G, Malki S, Dubois-Dauphin M, Boizet-Bonhoure B, Descombes P, Parker KL and Vassalli JD 2005. Gene expression during sex determination reveals a robust female genetic program at the onset of ovarian development. Developmental Biology 287, 361-377.
62. Niwa H, Miyazaki J and Smith AG 2000. Quantitative expression of Oct-3/4 defines differentiation, dedifferentiation or self-renewal of ES cells. Nature Genetics 24, 372-376.
63. Oka A, Mita A, Sakurai-Yamatani N, Yamamoto H, Takagi N, Takano-Shimizu T, Toshimori K, Moriwaki K and Shiroishi T 2004. Hybrid breakdown caused by substitution of the X chromosome between two mouse subspecies. Genetics 166, 913-924.
64. Oka A, Aoto T, Totsuka Y, Takahashi R, Ueda M, Mita A, Sakurai-Yamatani N, Yamamoto H, Kuriki S, Takagi N, Moriwaki K and Shiroishi T 2007. Disruption of genetic interaction between two autosomal regions and the x chromosome causes reproductive isolation between mouse strains derived from different subspecies. Genetics 175, 185-197.
65. Ottolenghi C, Pelosi E, Tran J, Colombino M, Douglass E, Nedorezov T, Cao A, Forabosco A and Schlessinger D 2007. Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells. Human Molecular Genetics 16, 2795-2804.
66. Paria BC, Lim H, Wang XN, Liehr J, Das SK and Dey SK 1998. Coordination of differential effects of primary estrogen and catecholestrogen on two distinct targets mediates embryo implantation in the mouse. Endocrinology 139, 5235-5246.
67. Paria BC, Song H and Dey SK 2001. Implantation: molecular basis of embryouterine dialogue. International Journal of Developmental Biology 45, 597-605.
68. Peripato AC, De Brito RA, Matioli SR, Pletscher LS, Vaughn TT and Cheverud JM 2004. Epistasis affecting litter size in mice. Journal of Evolution Biology 17, 593-602.
69. Pilder SH, Lu J, Han Y, Hui L, Samant SA, Olugbemiga OO, Meyers KW, Cheng L and Vijayaraghavan S 2007. The molecular basis of 'curlicue': a sperm motility abnormality linked to the sterility of t haplotype homozygous male mice. Soc Reproduction and Fertility Supplement 63, 123-133.
70. Quill TA, Sugden SA, Rossi KL, Doolittle LK, Hammer RE and Garbers DL 2003. Hyperactivated sperm motility driven by CatSper2 is required for fertilization. Proceedings of the National Academy of Sciences USA 100, 14869-14874.
71. Rajkovic A, Pangas SA, Ballow D, Suzumori N and Matzuk MM 2004. NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression. Science 305, 1157-1159.
72. Ren D, Navarro B, Perez G, Jackson AC, Hsu S, Shi Q, Tilly JL and Clapham DE 2001. A sperm ion channel required for sperm motility and male fertility. Nature 413, 603-609.
73. Rinchik EM, Johnson DK, Margolis FL, Jackson IJ, Russell LB and Carpenter DA 1991. Reverse genetics in the mouse and its application to the study of deafness. Annals of the New York Academy of Sciences 630, 80-92.
74. Rocha JL, Eisen EJ, Siewerdt F, Van Vleck LD and Pomp D 2004. A large-sample QTL study in mice: III. Reproduction. Mammalian Genome 15, 878-886.
75. Roy A and Matzuk MM 2006. Deconstructing mammalian reproduction: using knockouts to define fertility pathways. Reproduction 131, 207-219.
76. Russell WL, Kelly EM, Hunsicker PR, Bangham JW, Maddux SC and Phipps EL 1979. Specific-locus test shows ethylnitrosourea to be the most potent mutagen in the mouse. Proceedings of the National Academy of Sciences USA 76, 5818-5819.
77. Saitou M, Barton SC and Surani MA 2002. A molecular programme for the specification of germ cell fate in mice. Nature 418, 293-300.
78. Samant SA, Ogunkua OO, Hui L, Lu J, Han Y, Orth JM and Pilder SH 2005. The mouse t complex distorter/sterility candidate, Dnahc8, expresses a gammatype axonemal dynein heavy chain isoform confined to the principal piece of the sperm tail. Developmental Biology 285, 57-69.
79. Schnabel RD, Sonstegard TS, Taylor JF and Ashwell MS 2005. Whole-genome scan to detect QTL for milk production, conformation, fertility and functional traits in two US Holstein families. Animal Genetics 36, 408-416.
80. Schulman NF, Sahana G, Lund MS, Viitala SM and Vilkki JH 2008. Quantitative trait loci for fertility traits in Finnish Ayrshire cattle. Genetics Selection Evolution 40, 195-214.
81. Soyal SM, Amleh A and Dean J 2000. FIGalpha, a germ cell-specific transcription factor required for ovarian follicle formation. Development (Cambridge, England) 127, 4645-4654.
82. Takeuchi A, Mishina Y, Miyaishi O, Kojima E, Hasegawa T and Isobe K 2003. Heterozygosity with respect to Zfp148 causes complete loss of fetal germ cells during mouse embryogenesis. Nature Genetics 33, 172-176.
83. Talbi S, Hamilton AE, Vo KC, Tulac S, Overgaard MT, Dosiou C, Le Shay N, Nezhat CN, Kempson R, Lessey BA, Nayak NR and Giudice LC 2006. Molecular phenotyping of human endometrium distinguishes menstrual cycle phases and underlying biological processes in normo-ovulatory women. Endocrinology 147, 1097-1121.
84. Toure A, Lhuillier P, Gossen JA, Kuil CW, Lhote D, Jegou B, Escalier D and Gacon G 2007. The testis anion transporter 1 (Slc26a8) is required for sperm terminal differentiation and male fertility in the mouse. Human Molecular Genetics 16, 1783-1793.
85. Tremblay KD, Dunn NR and Robertson EJ 2001. Mouse embryos lacking Smad1 signals display defects in extra-embryonic tissues and germ cell formation. Development (Cambridge, England) 128, 3609-3621.
86. Vaiman D 2002. Fertility, sex determination, and the X chromosome. Cytogenetics and Genome Research 99, 224-228.
87. Vaiman D 2003. Sexy transgenes: the impact of gene transfer and gene inactivation technologies on the understanding of mammalian sex determination. Transgenic Research 12, 255-269.
88. Vaiman D and Pailhoux E 2000. Mammalian sex reversal and intersexuality: deciphering the sex-determination cascade. Trends in Genetics 16, 488-494.
89. Vainio S, Heikkilä M, Kispert A, Chin N and McMahon AP 1999. Female development in mammals is regulated by Wnt-4 signalling. Nature 397, 405-409.
90. Valdar W, Solberg LC, Gauguier D, Burnett S, Klenerman P, Cookson WO, Taylor MS, Rawlins JN, Mott R and Flint J 2006. Genome-wide genetic association of complex traits in heterogeneous stock mice. Nature Genetics 38, 879-887.
91. Vincent SD, Dunn NR, Sciammas R, Shapiro-Shalef M, Davis MM, Calame K, Bikoff EK and Robertson EJ 2005. The zinc finger transcriptional repressor Blimp1/Prdm1 is dispensable for early axis formation but is required for specification of primordial germ cells in the mouse. Development (Cambridge, England) 132, 1315-1325.
92. Walters KA, Allan CM, Jimenez M, Lim PR, Davey RA, Zajac JD, Illingworth P and Handelsman DJ 2007. Female mice haploinsufficient for an inactivated androgen receptor (AR) exhibit age-dependent defects that resemble the AR null phenotype of dysfunctional late follicle development, ovulation, and fertility. Endocrinology 148, 3674-3684.
93. Ying Y and Zhao GQ 2001. Cooperation of endoderm-derived BMP2 and extraembryonic ectoderm-derived BMP4 in primordial germ cell generation in the mouse. Developmental Biology 232, 484-492.
94. Ying Y, Liu XM, Marble A, Lawson KA and Zhao GQ 2000. Requirement of Bmp8b for the generation of primordial germ cells in the mouse. Molecular Endocrinology 14, 1053-1063.
95. Yoshinaga K, Nishikawa S, Ogawa M, Hayashi S, Kunisada T and Fujimoto T 1991. Role of c-kit in mouse spermatogenesis: identification of spermatogonia as a specific site of c-kit expression and function. Development (Cambridge, England) 113, 689-699.
96. Zídek V, Musilovà A, Pintir J, Simakova M and Pravenec M 1998. Genetic dissection of testicular weight in the mouse with the BXD recombinant inbred strains. Mammalian Genome 9, 503-505.