Oocyte-specific genes: Role in fertility and infertility

Journal of Endocrinological Investigation

Volumn 32, Issue 5, 2009, Pages 474-481

  Meczekalski, B ^a  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

Author keywords

Early embryogenesis; Folliculogenesis; Genes; Human; Oocyte; Oogenesis; Ovulation; Zona pellucida

Indexed keywords

GROWTH DIFFERENTIATION FACTOR 9; MATER PROTEIN; TRANSFORMING GROWTH FACTOR BETA; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; C MOS GENE; EMBRYO DEVELOPMENT; FEMALE INFERTILITY; FERTILITY; GDF 9 GENE; GENE; GENE EXPRESSION REGULATION; GENE IDENTIFICATION; H1FOO GENE; INFERTILITY; MATER GENE; MOUSE; NONHUMAN; OOCYTE DEVELOPMENT; OOCYTE SPECIFIC GENE; OVARY FOLLICLE DEVELOPMENT; OVARY POLYCYSTIC DISEASE; OVULATION; PREMATURE OVARIAN FAILURE; REVIEW; ZAR1 GENE; ZONA PELLUCIDA; ZP1 GENE; ZP2 GENE; ZP3 GENE; ZP4 GENE;

EID: 70350324010     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03346489     Document Type: Review

References (108)

1. Sardet C, Prodon F, Dumollard R, Chang P, Chenevert D. Structure and function of the egg cortex from oogenesis through fertilization. Dev Biol 2002, 241: 1-23. (Pubitemid 34066758)
2. Brenner C, Cohen J. The genetic revolution in artificial reproduction: a view of the future. Hum Reprod 2000, 15 (Suppl 5): 111-116 (Pubitemid 32051365)
3. Smitz JE, Cortvrindt RG. The earliest stages of folliculogenesis in vitro. Reproduction 2002, 123: 185-202.
4. Lewandoski M. Conditional control of gene expression in the mouse. Nat Rev Genet 2001, 2: 743-755 (Pubitemid 33685572)
5. Theurkauf WE. Oocyte differentiation: a motor makes a difference. Curr Biol 1997, 7: R548-51.
6. Amleh A, Dean J. Mouse genetics provides insight into folliculogenesis, fertilization and early embryonic development. Hum Reprod Update 2002, 8: 395-403. (Pubitemid 35175201)
7. Eichenlaub-Ritter U, Peschke M. Expression in in-vivo and in-vitro growing and maturing oocytes: focus on regulation of expression at the translational level. Hum Reprod Update 2002, 8: 21-41. (Pubitemid 34144982)
8. Gosden RG, Krapez J, Briggs D. Growth and cell development of the mammalian oocyte. Bioassay 1997, 19: 875-882 (Pubitemid 27447195)
9. Gosden RG. Oocyte development throughout life. In: Grudzinskas JG, Yovich JL eds. Gametes: The oocyte, Cambridge Reviews in Human Reproduction. Cambridge: Cambridge University Press. 1995, 19-149.
10. Faddy MJ, Gosden RG. A mathematical model of follicle dynamics in the human ovary. Hum Reprod 1995, 4: 770-775
11. Eppig JJ. Oocyte control of ovarian follicular development and function in mammals. Reproduction 2001, 122: 829-838 (Pubitemid 33138562)
12. Hsueh AJ, McGee EA, Hayashi M, Hsu SY. Hormonal regulation of early follicle development in the rat ovary. Mol Cell Endocrinol 2000, 163: 95-100. (Pubitemid 30645591)
13. Teixeira Filho FL, Baracat EC, Lee TH, et al. Aberrant expression of growth differentiation factor-9 in oocytes of women with polycystic ovary syndrome. J Clin Endocrinol Metab 2002, 87: 1337-1344
14. Mottershead DG, Pulkki MM, Muggalla P, et al. Characterization of recombinant human growth differentiation factor-9 signaling in ovarian granulosa cells. Mol Cell Endocrinol 2008; 283: 58-67.
15. Hubbard GM, Erickson GF. Luteinizing hormone (LH) - independent luteinization and ovulation in hypophysectomized rat: possible role of oocyte. Biol Reprod 1993, 39: 183-194
16. Nekola MV, Nalbandov AV. Morphological changes of rat follicular cells as influenced by oocytes. Biol Reprod 1971, 4: 154-160
17. Vanderhyden BC, Tonary AM. Differential regulation of progesterone and estradiol production by mouse cumulus and mural granulose cells by A factor(s) secreted by the oocytes. Riol Reprod 1995, 53: 1243-1250
18. Vanderhyden BC, Caron PJ, Buccione R, Eppig JJ. Developmental pattern of the secretion of cumulus expansion-enabling factor by mouse oocyte and the role of oocytes in promoting granulose cell differentiation. Dev Biol 1990, 140: 307-317 (Pubitemid 20222469)
19. Elvin JA, Yan C, Matzuk MM. Growth differentiation factor-9 stimulates progesterone synthesis in granulosa cells via a prostaglandin E2/EP2 receptor pathway. Proc Natl Acad Sci 2000, 97: 10288-10293 (Pubitemid 30680894)
20. Elvin JA, Clark AT, Wang P, Wolfman NM, Matzuk MM. Paracrine actions of growth differentiation factor-9 in the mammalian ovary. Mol Endocrinol 1999, 13: 1035-1048 (Pubitemid 30645319)
21. Hanrahan JP, Gregan SM, Mulsant P, et al. Mutations in the genes for oocyte-derived growth factors GDF9 and BMP15 are associated with both increased ovulation rate and sterility in Cambridge and Belclare sheep (Ovis aries). Biol Reprod 2004, 70: 900-909 (Pubitemid 38387698)
22. Nixon B, Asquith KL, Aitken JR. The role of molecular chaperones in mouse sperm-egg interaction. Moll Cell Endocrinol 2005, 240: 1-10. (Pubitemid 41133366)
23. Lefievre L, Conner SJ, Salpekar A, et al. Four zona pellucida glycoproteins are expressed in the human. Hum Reprod 2004, 19: 1580-1586 (Pubitemid 38997185)
24. Sinowatz F, Topfer-Petersen E, Kolle S, Palma G. Functional morphology of the zona pellucida. Anat Histol Embryol 2001, 30: 257-263 (Pubitemid 32943924)
25. Epifano O, Liang LF, Dean J. Mouse Zp1 encodes a zona pellucida protein homologous to egg envelope proteins in mammals and fish. J Biol Chem 1995, 270: 27254-27258
26. Liang LF, Dean J. Human homolog of the mouse gene encoding ZP2, the major component of zona pellucida. Dev Biol 1993, 156: 399-408.
27. Conner SJ Lefievre L, Hughes DC, Barrat CL. Cracking the egg: increased complexity in the zona pellucida. Hum Reprod 2005, 20: 1148-1152
28. Miller DJ, Shi X, Burkin H. Molecular basis of mammalian gamete binding. Recent Prog Horm Res 2002, 57: 37-73. (Pubitemid 35051817)
29. Bleil JD, Greve J.M., Wassarman PM. Identification of a secondary sperm receptor in the mouse egg zona pellucida: role in maintenance of binding of acrosome-reacted sperm to eggs. Dev Biol 1998, 128: 376-385
30. Saling PM. Sperm antigens in fertilization. Immunol Allergy Clin North Am 1990, 10: 149-164
31. Tsaadon A, Eliyahu E, Shtraizent N, Shalgi R. When a sperm meets an egg: block to polyspermy. Mol Cell Endocrinol 2006, 252: 107-114 (Pubitemid 43914087)
32. De La Fuente R, Eppig JJ. Transcriptional activity of the mouse oocyte genome: companion granulose cells modulate transcription and chromatin remodeling. Dev Biol 2001, 229: 224-236 (Pubitemid 32061726)
33. Pangas SA, Rajkovic A. Transcriptional regulation of early oogenesis: in search of masters. Hum Reprod Update 2006, 12: 65-76. (Pubitemid 43013748)
34. Tong ZB, Gold L, Pfeifer KE, et al. Mater, a maternal effect gene required for early embryonic development in mice. Nat Genet 2000, 26: 267-268 (Pubitemid 30824600)
35. Minami N, Tsukamoto S. Role of oocyte-specific genes in the development of mammalian embryos. Reprod Med Biol 2004, 5: 175-182 (Pubitemid 44193106)
36. Li XY, Ciu Xs, Kim NH. Transcription profile during maternal to zygotic transition in the mouse embryo. Reprod Fertil Dev 2006, 18: 635-645
37. Song JL, Wessel GM. How to make an egg: transcriptional regulation in oocytes. Differentiation 2005, 73: 1-17.
38. Rajkovic A, Matzuk MM. Functional analysis of oocyte-expressed genes using transgenic models. Mol Cell Endocrinol 2002, 187: 5-9. (Pubitemid 34436928)
39. Pennetier S, Uzbekova S, Guyader-Joly C, et al. Mouse has been the model of choice for the study of oocyte specific genes. Biol Reprod 2005, 73: 713-720
40. Waterston RH, Lander ES, Sulston JE. On the sequencing of the human genome. Proc Natl Acad Sci U S A 2002, 99: 3712-3716
41. Matzuk MM, Lamb DJ. Genetic dissection of mammalian fertility pathways. Nat Cell Biol 2002, 4 Suppl: 41-49
42. Stanton JL, Green DP. A set of 840 mouse oocyte genes with well-matched human homologs. Mol Hum Reprod 2001, 7: 521-543
43. Sirard MA, Dufort I, Coenen K, Tremblay K, Massicotte L, Robert C. The use of genomics to understand oocyte and early embryo functions in farm animals. Reprod Suppl 2003, 61: 117-129
44. Neilson L, Andalibi A, Kang D, et al. Molecular phenotype of the human oocyte by PCR-SAGE. Genomics 2000, 63: 13-24. (Pubitemid 30112234)
45. Zeng F, Schultz RM. Gene expression in mouse oocytes and preimplantation embryos: use of suppression subtractive hybridization to identify oocyte- embryo-specific genes. Biol Reprod 2003, 68: 31-39 (Pubitemid 36076315)
46. Tanaka TS, Jaradat SA, Lim MK, et al. MSH.Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray. Proc Natl Acad Sci U S A 2000, 97: 9127-9132
47. Vallée M, Gravel C, Palin MF, et al. Identification of novel and known oocyte-specific genes using complementary DNA subtraction and microarray analysis in three different species. Biol Reprod 2005, 73: 63-71. (Pubitemid 40863599)
48. Chen HW, Tzeng CR. Applications of microarray in reproductive medicine. Chang Gung Med J 2006, 29: 15-24.
49. Colledge WH, Carlton MB, Udy GB, Evans MJ. Disruption of c-mos causes parthenogenetic development of unfertilized mouse eggs. Nature 1994, 7: 65-68
50. Hashimoto N, Watanabe N, Furuta Y, et al. Parthenogenetic activation of oocytes in c-mos-deficient mice. Nature 1994, 370: 68-71. (Pubitemid 24216955)
51. Watson R, Oskarsson M, Vande Woude GF. Human DNA sequence homologous to the transforming gene (mos) of Moloney murine sarcoma virus. Proc Natl Acad Sci U S A 1982, 79: 4078-4082 (Pubitemid 12035081)
52. Dong J, Albertini DF, Nishimori K, Kumar TR, Lu N, Matzuk MM.Growth differentiation factor-9 is required during early ovarian folliculogenesis. Nature 1996, 383: 531-535 (Pubitemid 26346180)
53. Aaltonen J, Laitinen MP, Vuojolainen K, et al. Human growth differentiation factor 9 (GDF-9) and its novel homolog GDF-9B are expressed in oocytes during early folliculogenesis. J Clin Endocrinol Metab. 1999, 84: 2744-2750 (Pubitemid 30642005)
54. Rankin T, Talbot P, Lee E, Dean J. Abnormal zonae pellucidae in mice lacking ZP1 result in early embryonic loss. Development 1999, 126: 3847-3855 (Pubitemid 29440482)
55. Harris JD, Hibler DW, Fontenot GK, Hsu KT, Yurewicz EC, Sacco AG. Cloning and characterization of zona pellucida genes and cDNAs from a variety of mammalian species: the ZPA, ZPB and ZPC gene families. DNA Seq 1994, 4: 361-393
56. Rankin T, Obrien M, Lee E, Wigglesworth K, Eppig JJ, Dean J. Defective zonae pellucidae in ZP2-null mice disrupt folliculogenesis, fertility and development. Development 2001, 128: 1119-1126 (Pubitemid 32401427)
57. Rankin T, Familari M, Lee E, et al. Mice homozygous for an insertional mutation in the Zp3 gene lack a zona pellucida and are infertile. Development 1996, 122: 2903-2910 (Pubitemid 26326521)
58. van Duin M, Polman JE, Verkoelen CCEH, et al. Cloning and characterization of the human sperm receptor ligand ZP3: evidence for a second polymorphic allele with a different frequency in the Caucasian and Japanese populations. Genomics 1992, 14: 1064-1070
59. Soyal SM, Amleh A, Dean J. FIGalpha, a germ cell-specific transcription factor required for ovarian follicle formation. Development 2000, 127: 645-654 (Pubitemid 30952824)
60. Huntriss J, Gosden R, Hinkins M, et al. Isolation, characterization and expression of the human Factor In the Germline alpha (FIGLA) gene in ovarian follicles and oocytes. Mol Hum Reprod 2002, 8: 1087-1095 (Pubitemid 36032846)
61. Tong ZB, Nelson LM, Dean J. Mater encodes a maternal protein in mice with a leucine-rich repeat domain homologous to porcine ribonuclease inhibitor. Mamm Genome 2000, 11: 281-287 (Pubitemid 30171659)
62. Tong ZB, Bondy CA, Zhou J, Nelson LM. A human homologue of mouse Mater, a maternal effect gene essential for early embryonic development. Hum Reprod 2002, 17: 903-911 (Pubitemid 34411119)
63. Wu X, Viveiros MM, Eppig JJ, Bai Y, Fitzpatrick SL, Matzuk MM. Zygote arrest 1 (Zar 1) is a novel maternal-effect gene critical for the oocyte-to-embryo transition. Nat Genet 2003, 33: 187-191 (Pubitemid 36177072)
64. Wu X, Wang P, Brown CA, Zilinski CA, Matzuk MM. Zygote arrest 1 (Zar1) is an evolutionarily conserved gene expressed in vertebrate ovaries. Biol Reprod 2003, 69: 861-867 (Pubitemid 37064614)
65. Tanaka M, Hennebold JD, Macfarlane J, Adashi EY. A mammalian oocyte-specific linker histone gene H1oo: homology with the genes for the oocyte-specific cleavage stage histone (cs-H1) of sea urchin and the B4/H1M histone of the frog. Development 2001, 128: 655-664 (Pubitemid 32229243)
66. Sagata N. Introduction: meiotic maturation and arrest in animal oocytes. Semin Cell Dev Biol 1998,9: 535-537
67. Yew N, Strobel M, Vande Woude GF. Mos and the cell cycle: the molecular basis of the transformed phenotype. Curr Opin Genet Dev 1993, 3: 19-25. (Pubitemid 23079642)
68. Oskarsson M, McClements WL, Blair DG, Maizel JV, Vande Woude GF. Properties of a normal mouse cell DNA sequence (sarc) homologous to the src sequence of Moloney sarcoma virus. Science 1980, 207: 1222-1224 (Pubitemid 10118732)
69. Choi T, Fukasawa K, Zhou R, et al. The Mos/mitogen-activated protein kinase (MAPK) pathway regulates the size and degradation of the first polar body in maturing mouse oocytes. Proc Natl Acad Sci U S A 1996, 93: 7032-7035 (Pubitemid 26243496)
70. Heikinheimo O, Lanzendorf SE, Baka SG, Gibbons WE. Cell cycle genes c-mos and cyclin-B1 are expressed in a specific pattern in human oocytes and preimplantation embryos. Hum Reprod 1995, 10: 699-707.
71. Hashiba Y, Asada Y, Heikinheimo O, et al. Microinjection of antisense c-mos oligonucleotides prevents the progression of meiosis in human and hamster oocytes. Fertil Steril 2001, 76: 143-147 (Pubitemid 32600972)
72. Pal SK, Torry D, Serta R, et al. Expression and potential function of the c-mos proto-oncogene in human eggs. Fertil Steril 1994, 61: 496-503. (Pubitemid 24083152)
73. de Foy KA, Gayther SA, Colledge WH, et al. Mutation analysis of the c-mos proto-oncogene in human ovarian teratomas. Br J Cancer 1998, 77: 1642-1644 (Pubitemid 28230466)
74. Knight PG, Glister C. TGF-beta superfamily members and ovarian follicle development. Reproduction 2006, 132: 191-206. (Pubitemid 44274724)
75. McPherron AC, Lee SJ. GDF-3 and GDF-9: two new members of the transforming growth factor-beta supefamily containing a novel pattern of cysteines. J Biol Chem 1993, 268: 3444-3449 (Pubitemid 23070981)
76. McGrath SA, Esquela AF, Lee SJ. Oocyte-specific expression of growth/differentiation factor-9. Mol Endocrinol 1995, 9: 131-136
77. Elvin JA, Yan C, Wang P, Nishimori K, Matzuk MM. Molecular characterization of the follicle defects in the growth differentiation factor 9-deficient ovary. Mol Endocrinol 1998, 13: 1018-1034
78. Takebayashi K, Takakura K, Wang H, Kimura F, Kasahara K, Noda Y. Mutation analysis of the growth differentiation factor-9 and -9B genes in patients with premature ovarian failure and polycystic ovary syndrome. Fertil Steril 2000, 74: 976-979 (Pubitemid 30803837)
79. Laissue P, Christin-Maitre S, Touraine P, et al. Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure. Eur J Endocrinol 2006, 154: 739-744 (Pubitemid 43810861)
80. Dixit H, Rao LK, Padmalatha V, et al. Mutational screening of the coding region of growth differentiation factor 9 gene in Indian women with ovarian failure. Menopause 2005, 12: 749-754 (Pubitemid 41669128)
81. Palmer JS, Zhao ZZ, Hoekstra C, et al. Novel variants in growth differentiation factor 9 in mothers of dizygotic twins. J Clin Endocrinol Metab 2006, 91: 4713-4716 (Pubitemid 44833463)
82. Wassarman PM, Jovine L, Litscher ES. Mouse zona pellucida genes and glycoproteins. Cytogenet Genome Res 2004, 105: 228-234 (Pubitemid 38979684)
83. Epifano O, Liang LF, Familari M, Moos MC Jr, Dean J. Coordinate expression of the three zona pellucida genes during mouse oogenesis. Development 1995, 121: 947-956
84. Hughes DC, Barratt CL. Identification of the true human orthologue of the mouse Zp1 gene: evidence for greater complexity in the mammalian pellucida? Biochim Biophys Acta 1999, 1447: 303-306
85. Liang LF, Chamow SM, Dean J. Oocyte-specific expression of mouse Zp-2: developmental regulation of the zona pellucida genes. Mol Cell Biol 1990, 10: 1507-1515 (Pubitemid 20105022)
86. Lunsford RD, Jenkins NA, Kozak CA, et al. Genomic mapping of murine Zp-2 and Zp-3, two oocyte-specific loci encoding zona pellucida proteins. Genomics 1990, 6: 184-187
87. Dean J, Chamberlain ME, Millar SE, Baur AW, Lunsford RD. Developmental expression of the sperm receptor of the mouse zona pellucida. Ann N Y Acad Sci 1989, 564: 281-288 (Pubitemid 19231182)
88. Liu C, Litscher ES, Mortillo S, et al. Targeted disruption of the mZP3 gene results in production of eggs lacking a zona pellucida and infertility in female mice. Proc Natl Acad Sci U S A 1996, 93: 5431-5436 (Pubitemid 26159467)
89. Männikkö M, Törmälä RM, Tuuri T, et al. Association between sequence variations in genes encoding human zona pellucida glycoproteins and fertilization failure in IVF. Hum Reprod 2005, 20: 578-585 (Pubitemid 40852251)
90. Liang L, Soyal SM, Dean J. FIGalpha, a germ cell specific transcription factor involved in the coordinate expression of the zona pellucida genes. Development 1997, 124: 4939-4947 (Pubitemid 28025120)
91. Bayne RA, Martins da Silva SJ, Anderson RA. Increased expression of the FIGLA transcription factor is associated with primordial follicle formation in the human fetal ovary. Mol Hum Reprod 2004, 10: 373-381
92. Zhao H, Chen ZJ, Qin Y, et al. Transcription factor FIGLA is mutated in patients with premature ovarian failure. Am J Hum Genet 2008; 82: 1342-1348
93. Northup J, Griffis K, Hawkins J, Lockhart L, Velagaleti G. Unusual pseudo dicentric, psu dic (1;19)(q10;q13.42), in a female with premature ovarian failure. Fertil Steril 2007, 87: 697.e5-8 (Pubitemid 46385977)
94. Uzbekova S, Roy-Sabau M, Dalbies-Tran R, et al. Zygote arrest 1 in pig, cattle an human: evidence of different transcript variantsin male and female germ cells. Reprod Biol Endocrinol 2006, 4: 12-17
95. Fischle W, Wang Y, Allis CD. Histone and chromatin cross-talk. Curr Opin Cell Biol 2003, 15: 172-183
96. Tanaka M, Kihara M, Meczekalski B, King GJ, Adashi EY. H1oo: a pre-embryonic H1 linker histone in search of a function. Mol Cell Endocrinol 2003, 202: 5-9. (Pubitemid 36593386)
97. Furuya M, Tanaka M, Teranishi T, et al. H1foo is indispensable for meiotic maturation of the mouse oocyte. J Reprod Dev 2007, 53: 895-902. (Pubitemid 47397291)
98. Tanaka Y, Kato S., Tanaka M., Kuji M, Yoshimura Y. Structure and expression of the human oocyte-specific histone H1 gene elucidated by direct RT-nested PCR of a single oocyte. Biochem Biophys Res Commun 2003, 304: 351-357 (Pubitemid 36444577)
99. Gao S, Chung YG, Perseghian MH, King GJ, Adashi EY, Latham KE. Rapid H1 linker histone transitions following fertilization or somatic cell nuclear transfer evidence for a uniform developmental program in mice. Dev Biol 2004, 266: 62-75. (Pubitemid 38083195)
100. Tanaka M, Kihara M, Hennebold J, et al. H1Foo is coupled to the initiation of oocytic growth. Biol Reprod 2005, 72: 135-142 (Pubitemid 40013763)
101. Handel MA, Eppig JJ. Sertoli cell differentiation in the testes of mice genetically deficient in germ cells. Biol Reprod 1979, 20: 1031-1038
102. Acevedo N, Smith GD. Oocyte-specific gene signaling and its regulation of mammalian reproductive potential. Front Biosci 2005, 10: 2335-2345 (Pubitemid 40905304)
103. Zheng P, Dean J. Oocyte-specific genes affect folliculogenesis, fertilization and early development. Semin Reprod Med 2007, 25: 243-251 (Pubitemid 47047908)
104. Zheng P, Kerkela E, Skottman H, et al. Distinct sets of developmentally regulated genes that are expressed by human oocytes and human embryonic stem cells. Fertil Steril 2007, 87, 677-690 (Pubitemid 46385964)
105. Assou S, Anahory T, Pantesco V, et al. The human cumulus-oocyte complex genes expression profile. Hum Reprod 2006, 7: 1705-1719 (Pubitemid 44028240)
106. Kocabas AM, Crosby J, Ross PJ, et al. The transcriptosome of human oocyte. PNAS 2006, 103, 14027-14032
107. McNatty KP, Moore LG, Hudson NL, et al. The oocyte and its role in regulating ovulation rate: a new paradigm in reproductive biology. Reproduction 2004, 128: 379-386
108. Naz RK, Rajesh C. Gene knockouts that cause female infertility: search for novel contaceptive target. Front Biosci 2005, 10: 2447-2459 (Pubitemid 40905249)