人类的性别与性别畸形

从细胞遗传学和分子遗传学的角度阐述了人类性别的形成机理和性别畸形的致病机理。人类性别的形成是以SRY基因为主导的、多基因参与和调控的、有序表达的生理过程。性别畸形的形成是由于性染色体数目或结构异常、与性别形成有关的基因缺失、突变或与其表达调控相关的其他基因突变所致。     

人类性别决定和性别分化研究进展

SRY基因在人类性别分化中起着关键作用,目前研究认为SRY仅是涉及性别决定过程的基因之一,其他基因和SRY相关基因SOX9,抗副中肾激素基因AMH,编码缁类因子的基因SF1,X－连锁的DAX基因,wilm‘s肿瘤抑制基因WT1等基因都参与了人类性腺分化和发育,本文拟就人类性别决定基因的研究进展及其与人类性别分化的关系作一综述。     

Novel sex cells and evidence for sex pheromones in diatoms

Background

Diatoms belong to the stramenopiles, one of the largest groups of eukaryotes, which are primarily characterized by a presence of an anterior flagellum with tubular mastigonemes and usually a second, smooth flagellum. Based on cell wall morphology, diatoms have historically been divided into centrics and pennates, of which only the former have flagella and only on the sperm. Molecular phylogenies show the pennates to have evolved from among the centrics. However, the timing of flagellum loss – whether before the evolution of the pennate lineage or after – is unknown, because sexual reproduction has been so little studied in the ‘araphid’ basal pennate lineages, to which Pseudostaurosira belongs.

Methods/Principal Finding

Sexual reproduction of an araphid pennate, Pseudostaurosira trainorii, was studied with light microscopy (including time lapse observations and immunofluorescence staining observed under confocal scanning laser microscopy) and SEM. We show that the species produces motile male gametes. Motility is mostly associated with the extrusion and retrieval of microtubule-based ‘threads’, which are structures hitherto unknown in stramenopiles, their number varying from one to three per cell. We also report experimental evidence for sex pheromones that reciprocally stimulate sexualization of compatible clones and orientate motility of the male gametes after an initial ‘random walk’.

Conclusions/Significance

The threads superficially resemble flagella, in that both are produced by male gametes and contain microtubules. However, one striking difference is that threads cannot beat or undulate and have no motility of their own, and they do not bear mastigonemes. Threads are sticky and catch and draw objects, including eggs. The motility conferred by the threads is probably crucial for sexual reproduction of P. trainorii, because this diatom is non-motile in its vegetative stage but obligately outbreeding. Our pheromone experiments are the first studies in which gametogenesis has been induced in diatoms by cell-free exudates, opening new possibilities for molecular ‘dissection’ of sexualization.     

Group sex ratio and sex reversal

In hermaphroditic fishes, the initiation of sex reversal by male removal explains the replacement of lost males but does not explain how the number of males in a group may increase. Since numerous species apparently cannot produce primary males, a second means of initiating sex reversal must exist. In the present study we formulate a model which suggests the existence of an additional mechanism governing sex change: as soon as the ratio of adult females to males within a group exceeds a certain threshold value, a female changes sex even though no male has been removed. This process is inferred from comparison of data collected in the Red Sea and the western Indian Ocean with the model's predictions concerning size at sex reversal and the sex ratio of groups. The results suggest how several ecological factors may influence the occurrence rate of sex reversal and the development and growth of social groups.     

Plant sex determination and sex chromosomes

Sex determination systems in plants have evolved many times from hermaphroditic ancestors (including monoecious plants with separate male and female flowers on the same individual), and sex chromosome systems have arisen several times in flowering plant evolution. Consistent with theoretical models for the evolutionary transition from hermaphroditism to monoecy, multiple sex determining genes are involved, including male-sterility and female-sterility factors. The requirement that recombination should be rare between these different loci is probably the chief reason for the genetic degeneration of Y chromosomes. Theories for Y chromosome degeneration are reviewed in the light of recent results from genes on plant sex chromosomes.     

The cost of sex in hermaphrodite populations with variation in functional sex

In this paper an analysis is made of a model of selection for asexual reproduction in hermaphrodite (or monoecious) populations in which variation occurs in relative female and male fertilities. It is shown that the advantage of an asexual mutant (the cost of sex) increases with increasing degree of differentiation in functional sex. This effect is very marked at low levels of selfing, but weak with a high selfing rate. In general, the advantage of an asexual mutant in a hermaphrodite population depends on the relative resource allocation to male and female gametes, and increases with increasing bias to femaleness. Thus the cost of sex in gynodioecious populations is (with a low level of selfing) as high as in a dioecious population. This applies, however, to a nuclear genetic determination of gynodioecy, which is presumably rare. In a more realistic model assuming nuclear-cytoplasmic determination of gynodioecy the cost of sex is considerably lower.     

Cryptic sex in fungi

It is generally accepted that genetic recombination in eukaryotes is mostly driven by meiotic divisions as part of the sexual cycle. The maintenance of the sexual cycle that combines beneficial genes in sexual offspring from two parents provides an advantage for a species in novel or changing environments. Sex thus preserves beneficial and removes deleterious mutations. However, some eukaryotes, including many fungi lack sex entirely, and thus, it was assumed that recombination occurring during mitotic (somatic) divisions is the main force to shape the genome of these asexually propagating microbes. However, several recent reports of a sexual cycle in asexually propagating fungi put this concept in question. Here, we summarize the accumulating evidence for the general occurrence of cryptic sex in filamentous fungi in which sexual reproduction has not been previously reported.     

Reproducing lizards modify sex allocation in response to operational sex ratios

Sex-allocation theory suggests that selection may favour maternal skewing of offspring sex ratios if the fitness return from producing a son differs from that for producing a daughter. The operational sex ratio (OSR) may provide information about this potential fitness differential. Previous studies have reached conflicting conclusions about whether or not OSR influences sex allocation in viviparous lizards. Our experimental trials with oviparous lizards (Amphibolurus muricatus) showed that OSR influenced offspring sex ratios, but in a direction opposite to that predicted by theory: females kept in male-biased enclosures overproduced sons rather than daughters (i.e. overproduced the more abundant sex). This response may enhance fitness if local OSRs predict survival probabilities of offspring of each sex, rather than the intensity of sexual competition.     

Long-term sex reversal by oestradiol in amniotes with heteromorphic sex chromosomes

Oestradiol application during embryonic development reverses the sex of male embryos and results in normal female differentiation in reptiles lacking heteromorphic sex chromosomes, but fails to do so in birds and mammals with heteromorphic sex chromosomes. It is not clear whether the evolution of heteromorphic sex chromosomes in amniotes is accompanied by insensitivity to oestradiol, or if the association between oestradiol insensitivity and heteromorphic sex chromosomes can be attributable to phylogenetic constraints in these taxa. Turtles provide an ideal system to examine the potential relationship between oestradiol insensitivity and sex chromosome heteromorphy, since there are species with heteromorphic sex chromosomes that are closely related to species lacking heteromorphic sex chromosomes. We investigated this relationship by examining the long-term effects of oestradiol-17beta application on sex determination in Staurotypus triporcatus and Staurotypus salvinii, two turtle species with male heterogamety. After raising the turtles in the lab for 3 years, we found follicular and Müllerian duct morphology in oestradiol-treated turtles that was identical to that of untreated females. The lasting sex reversal suggests that the evolutionary transition between systems lacking heteromorphic sex chromosomes and those with heteromorphic sex chromosomes is not constrained by a fundamental mechanistic difference.     

Human sex ratios and sex distribution in sibships of size 2

We previously analyzed data from the U.S. National Health Interview Survey (NHIS, 1998 to 2002) on families with two biological children (10 years of age and younger) and found that the distribution of families with two boys, two girls, and one boy + one girl did not statistically conform to a binomial distribution regardless of the boy/girl sex ratio used. Using the best estimate of the sex ratio from the data, we found that there were significantly more families with opposite-sex siblings than families with same-sex siblings. No biological mechanism could explain these results at the time. In the present study we conducted an analysis of the first two children in sibships of size 3 from the same data source and found that there are significantly more same-sex sibships than unlike-sex sibships. Combining the two sets of data for the first two children produced observed numbers in close agreement with the expected numbers. A hypothesis of parental choice (family planning) appears to be strongly supported as an explanation for the discrepancies in the two sets of data individually. For example, parents who have a boy and a girl (either order) as their first two children are more likely to stop having children ("stopping rule") than are parents whose first two children are of the same sex.     

Evolutionarily stable sex ratios and sex allocations

The paternal fitness of a sexual individual is equated with the fitness of those eggs of its potential mates which it is able to fertilize. This property enables the total sexual fitness of individuals to be expressed in terms of female gamete contributions in separate equations for a cosex (an individual in a population composed of a single sexual class which combines male and female functions) and for parents in a dioecious population. The general equations are used in phenotypic models of selection which examine conditions maximizing the fitness advantage of one phenotype over another with a different sex ratio or allocation. As an example, it is shown that finite population size confers full stability on the sexual allocations in a cosexual population and on the sex ratio in a dioecious population.The use of fitness advantages provides the outcome of selection for all frequencies of contrasted phenotypes. It is therefore possible to redefine an ESS to allow for persistent variability in a population. A phenotype is an ESS in a population if, from any initial frequency, it is protected from loss by its fitness advantage. The conditions for a rare mutant to spread invariably coincide with those for its fixation only if an individual of any phenotype affects the fitness of other individuals of all phenotypes in identical ways.     

Evolution of sex I. Primitive sex

Sex is a process of fusion of separate hereditary determinants. The advantages which could accrue from such fusions are protection against deleterious mutations and the possibility of combining favorable alleles into a single individual. If the fitness of the aggregate resulting from fusion is greater than its parts there will be strong selective pressure to perpetuate the aggregate in all progeny. Continued fusion presents problems though and new environmental conditions may occur which favor segregation. Segregation is also favored because of the existence of favorable recessive mutations. It is argued that the balance between these alternative goals of phenotype stability versus variety achieved an effective compromise with the development of the meiosis-fusion-mitosis cycle.     

Molecular players involved in temperature-dependent sex determination and sex differentiation in Teleost fish

The molecular mechanisms that underlie sex determination and differentiation are conserved and diversified. In fish species, temperature-dependent sex determination and differentiation seem to be ubiquitous and molecular players involved in these mechanisms may be conserved. Although how the ambient temperature transduces signals to the undifferentiated gonads remains to be elucidated, the genes downstream in the sex differentiation pathway are shared between sex-determining mechanisms. In this paper, we review recent advances on the molecular players that participate in the sex determination and differentiation in fish species, by putting emphasis on temperature-dependent sex determination and differentiation, which include temperature-dependent sex determination and genetic sex determination plus temperature effects. Application of temperature-dependent sex differentiation in farmed fish and the consequences of temperature-induced sex reversal are discussed.     

Evolutionary sex allocation theory explains sex ratios in natural Plasmodium falciparum infections

Malaria transmission is achieved by sexual stages, called gametocytes, and the proportion of gametocytes that are male versus female (sex ratio) influences transmission success. In malaria model systems, variation in gametocyte sex ratios can be explained by the predictions of evolutionary sex allocation theory. We test these predictions using natural Plasmodium falciparum infections. The predicted negative correlation between sex ratio and gametocyte density holds: the sex ratio increases when gametocyte densities decrease, and this is most apparent in single genotype infections and in the dry season. We do not observe higher gametocyte sex ratios in mixed compared with single genotype infections.     

Evolution of the avian sex chromosomes and their role in sex determination

Is it the female-specific W chromosome of birds that causes the avian embryo to develop a female phenotype, analogous to the dominance mode of genic sex differentiation seen in mammals? Or is it the number of Z chromosomes that triggers male development, similar to the balance mode of differentiation seen in Drosophila and Caenorhabditis elegans? Although definite answers to these questions cannot be given yet, some recent data have provided support for the latter hypothesis. Moreover, despite the potentially common features of sex determination in mammals and birds, comparative mapping shows that the avian sex chromosomes have a different autosomal origin than the mammalian X and Y chromosomes.     

Soil moisture and sex ratio in a plant with nuclear-cytoplasmic sex inheritance

I investigated whether soil moisture affects relative fitness of females and hermaphrodites and sex ratio in a gynodioecious plant with nuclear-cytoplasmic sex inheritance. I contrast these results with those from species with strictly nuclear sex inheritance. I performed a manipulative watering experiment on seed fitness of the two sexes, and field studies measuring seed fitness and sex ratio as a function of soil moisture. In the dry site, watered hermaphrodites produced approximately twice as many seeds as unwatered hermaphrodites, with little treatment effect on female seed production. Over a natural soil moisture gradient, the ratio of female to hermaphrodite seed production was higher in dry than in wet sites. These data show that the seed fitness advantage of females is a function of soil moisture. Despite this, regression of soil moisture on the sex ratio of 23 populations was not significant. These results indicate a sex-dependent effect of soil moisture on resource allocation to seeds that does not translate into a strong effect on sex ratio. This is consistent with theory based on genomic conflict in which sex ratios are predicted to be only partly determined by fitness differences of the sexes.