Sex determination

Multicellular animals are a diverse lot, with widely varied body plans and lifestyles. One feature they share, however, is a nearly universal reliance on sexual reproduction for species propagation. Humans have long been fascinated by human sex differences and formal theories on how human sex is determined date at least to Aristotle (in De Generatione Animalium, ca. 335 BCE). However, it is only in the past couple of decades that the genetic and molecular programs responsible for generating the two sexes have been understood in any detail. Sex, it turns out, can be established by many very different and fast-evolving mechanisms, but often these involve a conserved class of transcriptional regulators, the DM domain proteins

Characterization of a large sex determination region in Salix purpurea L. (Salicaceae).

Dioecy has evolved numerous times in plants, but heteromorphic sex chromosomes are apparently rare. Sex determination has been studied in multiple Salix and Populus (Salicaceae) species, and P. trichocarpa has an XY sex determination system on chromosome 19, while S. suchowensis and S. viminalis have a ZW system on chromosome 15. Here we use whole genome sequencing coupled with quantitative trait locus mapping and a genome-wide association study to characterize the genomic composition of the non-recombining portion of the sex determination region. We demonstrate that Salix purpurea also has a ZW system on chromosome 15. The sex determination region has reduced recombination, high structural polymorphism, an abundance of transposable elements, and contains genes that are involved in sex expression in other plants. We also show that chromosome 19 contains sex-associated markers in this S. purpurea assembly, along with other autosomes. This raises the intriguing possibility of a translocation of the sex determination region within the Salicaceae lineage, suggesting a common evolutionary origin of the Populus and Salix sex determination loci

Female Sex Development and Reproductive Duct Formation Depend on Wnt4a in Zebrafish.

In laboratory strains of zebrafish, sex determination occurs in the absence of a typical sex chromosome and it is not known what regulates the proportion of animals that develop as males or females. Many sex determination and gonad differentiation genes that act downstream of a sex chromosome are well conserved among vertebrates, but studies that test their contribution to this process have mostly been limited to mammalian models. In mammals, WNT4 is a signaling ligand that is essential for ovary and Müllerian duct development, where it antagonizes the male-promoting FGF9 signal. Wnt4 is well conserved across all vertebrates, but it is not known if Wnt4 plays a role in sex determination and/or the differentiation of sex organs in nonmammalian vertebrates. This question is especially interesting in teleosts, such as zebrafish, because they lack an Fgf9 ortholog. Here we show that wnt4a is the ortholog of mammalian Wnt4, and that wnt4b was present in the last common ancestor of humans and zebrafish, but was lost in mammals. We show that wnt4a loss-of-function mutants develop predominantly as males and conclude that wnt4a activity promotes female sex determination and/or differentiation in zebrafish. Additionally, both male and female wnt4a mutants are sterile due to defects in reproductive duct development. Together these results strongly argue that Wnt4a is a conserved regulator of female sex determination and reproductive duct development in mammalian and nonmammalian vertebrates

Accuracy of sex determination for northeastern Pacific Ocean thornyheads (Sebastolobus altivelis and S. alascanus)

Determining the sex of thornyheads (Sebastolobus alascanus and S. altivelis) can be difficult under field conditions. We assessed our ability to correctly assign sex in the field by comparing results from field observations to results obtained in the laboratory through both macroscopic and microscopic examination of gonads. Sex of longspine thornyheads was more difficult to determine than that of shortspine thornyheads and correct determination of sex was signif icantly related to size. By restricting the minimum size of thornyheads to 18 cm for macroscopic determination of sex we reduced the number of fish with misidentified sex by approximately 65%

Sex determination in mythology and history

The history of ideas on how the sexes became divided spans at least three thousand years. The biblical account of the origin of Eve, and the opinions of the philosophers of classical Greece, have unexpected bearings on present-day ideas. The scientific study of sex determination can be said to have begun in the 17th century with the discovery of spermatozoa, but the origin and function of the “spermatic animalcules” eluded investigators until 1841. The mammalian egg was discovered in 1827, and in the last quarter of the century fertilization was observed. The view current at that time, that sex determination was under environmental control, gave way to the idea of chromosomal determination in the first quarter of the 20th century. The study of human and other mammalian chromosomes during the third quarter of the century, and the discovery of sex-chromosome abnormalities, emphasized the importance of the Y chromosome for male sex determination. The last quarter of the century witnessed a hunt for the “testis-determining” gene, thought to be responsible for the differentiation of Sertoli cells, and culminating in the isolation of SRY (Sry in the mouse). However, an increasing number of additional genes and growth factors were found to be required for the establishment of male sex. During the same period evidence emerged that male development was accompanied by enhanced growth, both of gonads and whole embryos. An unexpected finding was the demonstration of temperature-dependent sex determination in reptiles. With the advent of the 21st century, it was shown that Sry induces cell proliferation in fetal mouse gonads, and it has been suggested that male sex differentiation in mammals requires a higher metabolic rate. These insights could lead to a better understanding and improved treatment of abnormalities of sexual development

Sex determination

Després d’una descripció del que és el sexe, quan va aparèixer i per a què serveix, malgrat els seus costos, es descriuen els principals tipus de mecanismes de determinació del sexe tot centrant-nos en el que succeeix als vertebrats. Aquests mecanismes, en conjunt, es poden classificar com a genètics i ambientals, tot i que avui es tendeix a desdibuixar la seva separació. Entre els primers, s’inclou la determinació del sexe per factors (gens) “màster” o principals, com passa als mamífers, i sistemes multi- i poligènics, com passa en alguns peixos. Es descriuen també els gens determinants del sexe coneguts fins ara i perquè la seva diversitat constitueix una de les grans paradoxes dins de la biologia del desenvolupament. Seguidament, es parla de la determinació del sexe per factors ambientals, notablement la temperatura, i com l’epigenètica s’ha erigit en un disciplina ideal per estudiar la integració de la informació genètica i ambiental per a donar lloc a un fenotip sexual determinat. A continuació, es descriu el procés de diferenciació sexual i com els estrògens hi tenen una importància cabdal en tots els vertebrats excepte els mamífers placentats. Finalment, es mencionen les aplicacions de l’estudi de la determinació del sexe. Aquestes inclouen la diagnosi i comprensió dels trastorns del desenvolupament sexual en humans, el control de la proporció de sexes en la producció animal, particularment l’aquàtica, pel major creixement d’un sexe respecte l’altre, i els efectes que la pol·lució i el canvi climàtic poden tenir o ja tenen en la determinació del sexe als vertebrats.After a description of what sex is, when it appeared and the purpose it serves despite its costs, the main types of sex-determining mechanisms are described, focusing on the situation in vertebrates. These mechanisms can broadly be classified as genetic and environmental, although today there is a tendency to blur this separation. The genetic mechanisms include the determination of sex by main factors or “master” genes, as in mammals, and multi-and polygenic systems, as in some fish. We describe the sex genes known to date and explain why their diversity is one of the great paradoxes in development biology. Next, we present the determination of sex by environmental factors, particularly by temperature, and explain why epigenetics is emerging as an ideal discipline for studying the integration of genetic and environmental information to give rise to a given sexual phenotype. We then describe the process of sexual differentiation and how estrogens are of paramount importance for ovarian differentiation in all vertebrates except placental mammals. Finally, the applications of studying sex determination are mentioned. These include the diagnosis and understanding of sexual development disorders in humans, controlling sex ratios in animal production—particularly in aquatic animals due to the greater growth of one sex than the other—and the effects that pollution and climate change may have, or already have, in the determination of sex in some vertebrates

The rise and fall of the ancient northern pike master sex-determining gene

The understanding of the evolution of variable sex determination mechanisms across taxa requires comparative studies among closely related species. Following the fate of a known master sex-determining gene, we traced the evolution of sex determination in an entire teleost order (Esociformes). We discovered that the northern pike (Esox lucius) master sex-determining gene originated from a 65 to 90 million-year-old gene duplication event and that it remained sex linked on undifferentiated sex chromosomes for at least 56 million years in multiple species. We identified several independent species- or population-specific sex determination transitions, including a recent loss of a Y chromosome. These findings highlight the diversity of evolutionary fates of master sex-determining genes and the importance of population demographic history in sex determination studies. We hypothesize that occasional sex reversals and genetic bottlenecks provide a non-adaptive explanation for sex determination transitions

The rise and fall of the ancient northern pike master sex determining gene

The understanding of the evolution of variable sex determination mechanisms across taxa requires comparative studies among closely related species. Following the fate of a known master sex-determining gene, we traced the evolution of sex determination in an entire teleost order (Esociformes). We discovered that the northern pike (Esox lucius) master sex-determining gene originated from a 65 to 90 million-year-old gene duplication event and that it remained sex-linked on undifferentiated sex chromosomes for at least 56 million years in multiple species. We identified several independent species- or population-specific sex determination transitions, including a recent loss of a Y-chromosome. These findings highlight the diversity of evolutionary fates of master sex-determining genes and the importance of population demographic history in sex determination studies. We hypothesize that occasional sex reversals and genetic bottlenecks provide a non-adaptive explanation for sex determination transitions