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      Genomic Approaches to Study Genetic and Environmental Influences on Fish Sex Determination and Differentiation

      research-article
      , ,
      Marine Biotechnology (New York, N.y.)
      Springer-Verlag
      Gonads, Teleost, NGS, Epigenetics, Microarrays

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          Abstract

          The embryonic gonad is the only organ that takes two mutually exclusive differentiating pathways and hence gives rise to two different adult organs: testes or ovaries. The recent application of genomic tools including microarrays, next-generation sequencing approaches, and epigenetics can significantly contribute to decipher the molecular mechanisms involved in the processes of sex determination and sex differentiation. However, in fish, these studies are complicated by the fact that these processes depend, perhaps to a larger extent when compared to other vertebrates, on the interplay of genetic and environmental influences. Here, we review the advances made so far, taking into account different experimental approaches, and illustrate some technical complications deriving from the fact that as development progresses it becomes more and more difficult to distinguish whether changes in gene expression or DNA methylation patterns are the cause or the consequence of such developmental events. Finally, we suggest some avenues for further research in both model fish species and fish species facing specific problems within an aquaculture context.

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          Most cited references79

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          Principles and challenges of genomewide DNA methylation analysis.

          Methylation of cytosine bases in DNA provides a layer of epigenetic control in many eukaryotes that has important implications for normal biology and disease. Therefore, profiling DNA methylation across the genome is vital to understanding the influence of epigenetics. There has been a revolution in DNA methylation analysis technology over the past decade: analyses that previously were restricted to specific loci can now be performed on a genome-scale and entire methylomes can be characterized at single-base-pair resolution. However, there is such a diversity of DNA methylation profiling techniques that it can be challenging to select one. This Review discusses the different approaches and their relative merits and introduces considerations for data analysis.
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            DMY is a Y-specific DM-domain gene required for male development in the medaka fish.

            Although the sex-determining gene Sry has been identified in mammals, no comparable genes have been found in non-mammalian vertebrates. Here, we used recombinant breakpoint analysis to restrict the sex-determining region in medaka fish (Oryzias latipes) to a 530-kilobase (kb) stretch of the Y chromosome. Deletion analysis of the Y chromosome of a congenic XY female further shortened the region to 250 kb. Shotgun sequencing of this region predicted 27 genes. Three of these genes were expressed during sexual differentiation. However, only the DM-related PG17 was Y specific; we thus named it DMY. Two naturally occurring mutations establish DMY's critical role in male development. The first heritable mutant--a single insertion in exon 3 and the subsequent truncation of DMY--resulted in all XY female offspring. Similarly, the second XY mutant female showed reduced DMY expression with a high proportion of XY female offspring. During normal development, DMY is expressed only in somatic cells of XY gonads. These findings strongly suggest that the sex-specific DMY is required for testicular development and is a prime candidate for the medaka sex-determining gene.
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              A duplicated copy of DMRT1 in the sex-determining region of the Y chromosome of the medaka, Oryzias latipes.

              The genes that determine the development of the male or female sex are known in Caenorhabditis elegans, Drosophila, and most mammals. In many other organisms the existence of sex-determining factors has been shown by genetic evidence but the genes are unknown. We have found that in the fish medaka the Y chromosome-specific region spans only about 280 kb. It contains a duplicated copy of the autosomal DMRT1 gene, named DMRT1Y. This is the only functional gene in this chromosome segment and maps precisely to the male sex-determining locus. The gene is expressed during male embryonic and larval development and in the Sertoli cells of the adult testes. These features make DMRT1Y a candidate for the medaka male sex-determining gene.
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                Author and article information

                Contributors
                +34-93-2309567 , +34-93-2309567 , piferrer@icm.csic.es
                Journal
                Mar Biotechnol (NY)
                Mar. Biotechnol
                Marine Biotechnology (New York, N.y.)
                Springer-Verlag (New York )
                1436-2228
                1436-2236
                29 April 2012
                29 April 2012
                October 2012
                : 14
                : 5
                : 591-604
                Affiliations
                Institut de Ciències del Mar, Consejo Superior de Investigaciones Científicas (CSIC), Passeig Marítim, 37-49, Barcelona, 08003 Spain
                Article
                9445
                10.1007/s10126-012-9445-4
                3419836
                22544374
                4e1d4b19-6ac0-4c89-9cd3-6ad111ab8459
                © The Author(s) 2012
                History
                : 12 December 2011
                : 5 March 2012
                Categories
                Original Article
                Custom metadata
                © Springer Science+Business Media, LLC 2012

                Biotechnology
                teleost,microarrays,gonads,ngs,epigenetics
                Biotechnology
                teleost, microarrays, gonads, ngs, epigenetics

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