Free Standard AU & NZ Shipping For All Book Orders Over $80!
Register      Login
Reproduction, Fertility and Development Reproduction, Fertility and Development Society
Vertebrate reproductive science and technology
RESEARCH ARTICLE

Next generation sequencing allows deeper analysis and understanding of genomes and transcriptomes including aspects to fertility

Thomas Werner
+ Author Affiliations
- Author Affiliations

Genomatix Software GmbH, Bayerstr. 85A, D-80335 München, Germany.Internal Medicine Nephrology, University of Michigan, 5520 MSRB I,1150 W Medical Center Dr, SPC 5680, Ann Arbor, MI 48109, USA.Email: werner@genomatix.de

Reproduction, Fertility and Development 23(1) 75-80 https://doi.org/10.1071/RD10247
Published: 7 December 2010

Abstract

Reproduction and fertility are controlled by specific events naturally linked to oocytes, testes and early embryonal tissues. A significant part of these events involves gene expression, especially transcriptional control and alternative transcription (alternative promoters and alternative splicing). While methods to analyse such events for carefully predetermined target genes are well established, until recently no methodology existed to extend such analyses into a genome-wide de novo discovery process. With the arrival of next generation sequencing (NGS) it becomes possible to attempt genome-wide discovery in genomic sequences as well as whole transcriptomes at a single nucleotide level. This does not only allow identification of the primary changes (e.g. alternative transcripts) but also helps to elucidate the regulatory context that leads to the induction of transcriptional changes. This review discusses the basics of the new technological and scientific concepts arising from NGS, prominent differences from microarray-based approaches and several aspects of its application to reproduction and fertility research. These concepts will then be illustrated in an application example of NGS sequencing data analysis involving postimplantation endometrium tissue from cows.

Additional keywords: alternative promoters, alternative splicing, downstream analysis, regulatory networks.


References

Bullard, J. H., Mostovoy, Y., and Dudoit, S. (2010). Brem RB polygenic and directional regulatory evolution across pathways in Saccharomyces. Proc. Natl Acad. Sci. USA 107, 5058–5063.
Brem RB polygenic and directional regulatory evolution across pathways in Saccharomyces.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BC3cXjvFGntLo%3D&md5=d504d8afa65ee9635054f58fdc3423b9CAS |

Claustres, M. (2005). Molecular pathology of the CFTR locus in male infertility. Reprod. Biomed. Online 10, 14–41.
Molecular pathology of the CFTR locus in male infertility.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD2MXhtF2lsL0%3D&md5=508cb6846a73dabccfc36cfaa2d2930fCAS | 15705292PubMed |

de la Grange, P., Gratadou, L., Delord, M., Dutertre, M., and Auboeuf, D. (2010). Splicing factor and exon profiling across human tissues. Nucleic Acids Res. 38, 2825–2838.
Splicing factor and exon profiling across human tissues.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BC3cXmtFykt7Y%3D&md5=046037fe916065878aebae29b22bd17fCAS | 20110256PubMed |

ENCODE Project Consortium, Birney, E., Stamatoyannopoulos, J. A., Dutta, A., Guigó, R., et al. (2007). Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 447, 799–816.
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.Crossref | GoogleScholarGoogle Scholar | 17571346PubMed |

International Human Genome Sequencing Consortium, Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., et al. (2001). Initial sequencing and analysis of the human genome. Nature 409, 860–921.
Initial sequencing and analysis of the human genome.Crossref | GoogleScholarGoogle Scholar | 11237011PubMed |

Mortazavi, A., Leeper Thompson, E. C., Garcia, S. T., Myers, R. M., and Wold, B. (2006). Comparative genomics modelling of the NRSF/REST repressor network: from single conserved sites to genome-wide repertoire. Genome Res. 16, 1208–1221.
Comparative genomics modelling of the NRSF/REST repressor network: from single conserved sites to genome-wide repertoire.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD28XhtVOmtrnL&md5=b396807bb71b8ecfec2528f600deaaadCAS | 16963704PubMed |

Okada, Y., Tateishi, K., and Zhang, Y. (2010). Histone demethylase JHDM2A is involved in male infertility and obesity. J. Androl. 31, 75–78.
Histone demethylase JHDM2A is involved in male infertility and obesity.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BC3cXjs12ksb0%3D&md5=1f48d389c6b08dd9fd58a3b2cde1bcd5CAS | 19875498PubMed |

Rossi, P., Dolci, S., Sette, C., and Geremia, R. (2003). Molecular mechanisms utilized by alternative c-kit gene products in the control of spermatogonial proliferation and sperm-mediated egg activation. Andrologia 35, 71–78.
Molecular mechanisms utilized by alternative c-kit gene products in the control of spermatogonial proliferation and sperm-mediated egg activation.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD3sXislWit7g%3D&md5=5dcab23b00e35c90b35eccce49088288CAS | 12558531PubMed |

Sanger, F., and Coulson, A. R. (1975). A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase. J. Mol. Biol. 94, 441–446.
A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DyaE2MXksFGms7Y%3D&md5=2be4e26489112c4749a311f7417a1be6CAS | 1100841PubMed |

Sultan, M., Schulz, M. H., Richard, H., Magen, A., Klingenhoff, A., et al. (2008). A global view of gene activity and alternative splicing by deep sequencing of the human transcriptome. Science 321, 956–960.
A global view of gene activity and alternative splicing by deep sequencing of the human transcriptome.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD1cXpslWrur4%3D&md5=a1f51967069466fdf888208ee8659808CAS | 18599741PubMed |

van Bakel, H., Nislow, C., Blencowe, B. J., and Hughes, T. R. (2010). Most ‘dark matter’ transcripts are associated with known genes. PLoS Biol. 8, e1000371.
Most ‘dark matter’ transcripts are associated with known genes.Crossref | GoogleScholarGoogle Scholar | 20502517PubMed |

van den Berg, B. H., McCarthy, F. M., Lamont, S. J., and Burgess, S. C. (2010). Re-annotation is an essential step in systems biology modelling of functional genomics data. PLoS ONE 5, e10642.
Re-annotation is an essential step in systems biology modelling of functional genomics data.Crossref | GoogleScholarGoogle Scholar | 20498845PubMed |

Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., et al. (2001). The sequence of the human genome. Science 291, 1304–1351.
The sequence of the human genome.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD3MXhtlSgsbo%3D&md5=5c996bf61803a04ac78c9baa8632c368CAS | 11181995PubMed |

Watson, J. D., and Crick, F. H. (1953). Molecular structure of nucleic acids; a structure for deoxyribose nucleic acid. Nature 171, 737–738.
Molecular structure of nucleic acids; a structure for deoxyribose nucleic acid.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DyaG2cXivVGktA%3D%3D&md5=feaf4738670be4683eb0d7f87d863797CAS | 13054692PubMed |

Werner, T. (2010). Next generation sequencing in functional genomics. Brief. Bioinform. 11, 499–511.
Next generation sequencing in functional genomics.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BC3cXht1Wgs7%2FF&md5=fd695f800e333db510ba08827a509c33CAS | 20501549PubMed |