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PubMed1998

Evolution of the mammalian Y chromosome and sex-determining genes.

In mammals, male sex determination, as well as spermatogenesis, is controlled by genes on the Y chromosome. Evolutionary comparisons may be used to detect and test candidate genes for these functions, under the hypothesis that the rapid evolution of the mammalian Y chromosome causes it to contain few genes other than those with a critical function in male reproduction. Comparisons of the gene content of sex chromosomes from the three major groups of extant mammals (placentals, marsupials, and monotremes) show that part of the X chromosome, and a corresponding region of the Y, is shared by all mammals and must be very ancient, but part was added relatively recently. Evolution of the mammalian Y took place in several cycles of addition and attrition, as autosomal regions were added to the pseudoautosomal region of one sex chromosome, recombined onto the other, and degraded on the Y. This explains why most genes and pseudogenes on the Y chromosome have relatives on the X. The gene SRY itself is apparently no exception, being closely related to the highly conserved X-linked gene SOX3. Comparisons of SRY/SOX base sequence and gene location in the three groups of mammals suggest that SRY evolved from SOX3 relatively recently by mutation and loss of all sequences outside the HMG box. It is suggested here that, rather than acting as a transcriptional activator, the SRY gene acts to inhibit its paralogue SOX3, which in turn inhibits an ancient autosomal sex-determining gene SOX9.

Animals↗
PubMed1998

Extensive direct-tandem organization of a long repeat DNA sequence on the Y chromosome of chinook salmon (Oncorhynchus tshawytscha).

A long repetitive DNA sequence (OtY8) has been cloned from male chinook salmon and its genomic organization has been characterized. The repeat has a unit length of 8 kb and is present approximately 300 times per diploid male nucleus. All internal fragments within the 8-kb repeat segregate from father to son, suggesting that the entire repeat unit is located on the Y chromosome. The organization of this sequence into an 8-kb repeat unit is restricted to the Y chromosome, as are several male-specific repeat subtypes identified on the basis of restriction-site variation. The repeat possesses only weak internal sequence similarities, suggesting that OtY8 has not arisen by duplication of a smaller repeat unit, as is the case for other long tandem arrays found in eukaryotes. Based on a laddered pattern arising from partial digestion of genomic DNA with a restriction enzyme which cuts only once per repeat unit, this sequence is not dispersed on the Y chromosome but is organized as a head-to-tail tandem array. Pulse-gel electrophoresis reveals that the direct-tandem repeats are organized into at least six separate clusters containing approximately 12 to 250 copies, comprising some 2.4 Mb of Y-chromosomal DNA in total. Related sequences with nucleotide substitutions and DNA insertions relative to the Y-chromosomal fragment are found elsewhere in the genome but at much lower copy number and, although similar sequences are also found in other salmonid species, the amplification of the repeat into a Y-chromosome-linked tandem array is only observed in chinook salmon. The OtY8 repetitive sequence is genetically tightly associated with the sex-determination locus and provides an opportunity to examine the evolution of the Y chromosome and sex determination process in a lower vertebrate.

Animals↗
PubMed1998

Mammalian sex determination: joining pieces of the genetic puzzle.

Mammalian sex determination is controlled by the Y-linked gene SRY. Studies of sex-reversed patients and experimental data obtained with mice have identified other genes, such as DAX1, SOX9, SF1, and WT1, which take part in the process, and have suggested how these genes interact to determine the sex of a mammalian embryo. A recent paper in Nature by Swain et al. provides experimental data that basically confirm the previously proposed hypothesis that SRY acts by inhibiting the action of DSS/DAX1, which is a repressor of genes of the male pathway.

Animals↗
PubMedDate not supplied

[Molecular mechanisms in sex determination: from gene regulation to pathology].

Testis determination is the complex process by which the bipotential gonad becomes a normal testis during embryo development. As a consequence, this process leads to sexual differentiation corresponding to the masculinization of both genital track and external genitalia. The whole phenomenon is under genetic control and is particularly driven by the presence of the Y chromosome and by the SRY gene, which acts as the key initiator of the early steps of testis determination. However, many other autosomal genes, present in both males and females, are expressed during testis formation in a gene activation pathway, which is far to be totally elucidated. All these genes act in a dosage-sensitive manner by which quantitative gene abnormalities, due to chromosomal deletions, duplications or mosaicism, may lead to testis determination failure and sex reversal.

Animals↗
PubMedDate not supplied

Sex determination: where environment and genetics meet.

In mammals and birds the genetic constitution established at the time of fertilization determines the type of gonad that develops, whereas in all crocodilians and many turtles it is the temperature experienced during the mid-trimester of embryogenesis that initiates gonadal differentiation. Research with the red-eared slider suggests considerable conservation in the genetic cascades that underlie the sex determination process in vertebrates and, further, that the patterns of expression of these genes appear to reflect phylogenetic relationships, with turtles being more similar to mammals than they are to birds and crocodilians. After the determination and differentiation of an individual's gonadal sex, epigenetic forces shape those morphological, physiological, and behavioral traits that characterize each individual's unique sexuality. Research with the leopard gecko thus relates to the fundamental question of what factors determine individual variability, particularly as it relates to sexually dimorphic behaviors. Taken together, this research illustrates how sexuality depends on sex, but sex should not be confused with sexuality. That is, sex is merely a means of categorizing individuals or gonads, whereas sexuality serves as a descriptor of concordant traits each of which is typically sexually dimorphic in its expression.

Alligators and Crocodiles↗
PubMed1989

Genes that implement the hermaphrodite mode of dosage compensation in Caenorhabditis elegans.

We report a genetic characterization of several essential components of the dosage compensation process in Caenorhabditis elegans. Mutations in the genes dpy-26, dpy-27, dpy-28, and the newly identified gene dpy-29 disrupt dosage compensation, resulting in elevated X-linked gene expression in XX animals and an incompletely penetrant maternal-effect XX-specific lethality. These dpy mutations appear to cause XX animals to express each set of X-linked genes at a level appropriate for XO animals. XO dpy animals are essentially wild type. Both the viability and the level of X-linked gene expression in XX animals carrying mutations in two or more dpy genes are the same as in animals carrying only a single mutation, consistent with the view that these genes act together in a single process (dosage compensation). To define a potential time of action for the gene dpd-28 we performed reciprocal temperature-shift experiments with a heat sensitive allele. The temperature-sensitive period for lethality begins 5 hr after fertilization at the 300-cell stage and extends to about 9 hr, a point well beyond the end of cell proliferation. This temperature-sensitive period suggests that dosage compensation is functioning in XX animals by mid-embryogenesis, when many zygotically transcribed genes are active. While mutations in the dpy genes have no effect on the sexual phenotype of otherwise wild-type XX or XO animals, they do have a slight feminizing effect on animals whose sex-determination process is already genetically perturbed. The opposite directions of the feminizing effects on sex determination and the masculinizing effects on dosage compensation caused by the dpy mutations are inconsistent with the wild-type dpy genes acting to coordinately control both processes. Instead, the feminizing effects are most likely an indirect consequence of disruptions in dosage compensation caused by the dpy mutations. Based on the cumulative evidence, the likely mechanism of dosage compensation in C. elegans involves reducing X-linked gene expression in XX animals to equal that in XO animals via the action of the dpy genes.

Animals↗
PubMed2001

Genomic organization and expression of the doublesex-related gene cluster in vertebrates and detection of putative regulatory regions for DMRT1.

Genes related to the Drosophila melanogaster doublesex and Caenorhabditis elegans mab-3 genes are conserved in human. They are identified by a DNA-binding homology motif, the DM domain, and constitute a gene family (DMRTs). Unlike the invertebrate genes, whose role in the sex-determination process is essentially understood, the function of the different vertebrate DMRT genes is not as clear. Evidence has accumulated for the involvement of DMRT1 in male sex determination and differentiation. DMRT2 (known as terra in zebrafish) seems to be a critical factor for somitogenesis. To contribute to a better understanding of the function of this important gene family, we have analyzed DMRT1, DMRT2, and DMRT3 from the genome model organism Fugu rubripes and the medakafish, a complementary model organism for genetics and functional studies. We found conservation of synteny of human chromosome 9 in F. rubripes and an identical gene cluster organization of the DMRTs in both fish. Although expression analysis and gene linkage mapping in medaka exclude a function for any of the three genes in the primary step of male sex determination, comparison of F. rubripes and human sequences uncovered three putative regulatory regions that might have a role in more downstream events of sex determination and human XY sex reversal.

Amino Acid Sequence↗
PubMed2001

Endocrine and environmental aspects of sex differentiation in gonochoristic fish.

This paper reviews current knowledge concerning the endocrine and environmental regulation of gonadal sex differentiation in gonochoristic fish. In gonochoristic fish, although potentially active around this period, the hypothalamo-pituitary axis is probably not involved in triggering sex differentiation. Although steroids and steroidogenic enzymes are probably not the initial triggers of sex differentiation, new data, including molecular approaches, have confirmed that they are key physiological steps in the regulation of this process. Environmental factors can strongly influence sex differentiation in gonochoristic fish. The most important environmental determinant of sex would appear to be temperature. Interactions between environmental factors and genotype have been suggested for gonochoristic fish.

Androgens↗