Journal articles: 'Sex determination, Genetic'

1

Werren, John H., and Leo W. Beukeboom. "SEX DETERMINATION, SEX RATIOS, AND GENETIC CONFLICT." Annual Review of Ecology and Systematics 29, no. 1 (November 1998): 233–61. http://dx.doi.org/10.1146/annurev.ecolsys.29.1.233.

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Corradi, Nicolas. "Sex Determination: Genetic Dominance in Oomycete Sex." Current Biology 30, no. 20 (October 2020): R1256—R1258. http://dx.doi.org/10.1016/j.cub.2020.08.043.

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Simpson, Joe. "Genetic Control of Sex Determination." Seminars in Reproductive Medicine 5, no. 03 (August 1987): 209–20. http://dx.doi.org/10.1055/s-2007-1021869.

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HEDRICK, P., J. GADAU, and R. PAGEJR. "Genetic sex determination and extinction." Trends in Ecology & Evolution 21, no. 2 (February 2006): 55–57. http://dx.doi.org/10.1016/j.tree.2005.11.014.

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Girondot, Marc, Patrick Zaborski, Jean Servan, and Claude Pieau. "Genetic contribution to sex determination in turtles with environmental sex determination." Genetical Research 63, no. 2 (April 1994): 117–27. http://dx.doi.org/10.1017/s0016672300032225.

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SummaryIn many reptiles, sex determination is temperature-sensitive. This phenomenon has been shown to take place in the laboratory as well as in nature, but its effect on natural populations remains questionable. In the turtle Emys orbicularis, the effects of temperature override a weak mechanism of genetic sex determination which is revealed in incubation at pivotal temperature. At this temperature, the sexual phenotype is concordant with the expression of the serologically defined H-Y antigen (H-Ys) in non-gonadal tissues; males are H-Ys negative (H-Y−) whereas females are H-Ys positive (H-Y+). To estimate the importance of sexual inversion (sexual phenotype and H-Ys expression discordant) in populations of Brenne (France), the frequencies of male and female sexual phenotypes among H-Ys phenotypes were determined. The frequencies of sex reversed individuals are low, only 6 % of phenotypic females being H-Y− and 11 % of phenotypic males being H-Y+. According to these data, two theoretical models have been constructed to estimate the contribution to sex determination of individuals in relation to their genotype. The first model excludes any influence of incubation temperature and sexual phenotype on the fitness of individuals. The second one considers that these parameters influence fitness because this model has been previously shown to favour environmental sex determination. In both models, it appears that sex determination can be viewed as genotypic and monogenic with some individuals sexually inverted by theaction of temperature. One category of homozygous animals differentiates mainly into one sex, and the heterozygous animals differentiate mainly into the other sex. The second category of homozygotes has a low frequency in the populations and can differentiate as male or female without high constraint. Then it is estimated that in Brenne approximately 83% of the eggs are incubated in conditions allowing the genetic component to influence sex determination.

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Hedrick, P. W., and D. Hedgecock. "Sex Determination: Genetic Models for Oysters." Journal of Heredity 101, no. 5 (June 4, 2010): 602–11. http://dx.doi.org/10.1093/jhered/esq065.

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7

Wedekind, Claus. "Demographic and genetic consequences of disturbed sex determination." Philosophical Transactions of the Royal Society B: Biological Sciences 372, no. 1729 (July 31, 2017): 20160326. http://dx.doi.org/10.1098/rstb.2016.0326.

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During sex determination, genetic and/or environmental factors determine the cascade of processes of gonad development. Many organisms, therefore, have a developmental window in which their sex determination can be sensitive to, for example, unusual temperatures or chemical pollutants. Disturbed environments can distort population sex ratios and may even cause sex reversal in species with genetic sex determination. The resulting genotype–phenotype mismatches can have long-lasting effects on population demography and genetics. I review the theoretical and empirical work in this context and explore in a simple population model the role of the fitness v yy of chromosomally aberrant YY genotypes that are a consequence of environmentally induced feminization. Low v yy is mostly beneficial for population growth. During feminization, low v yy reduces the proportion of genetic males and hence accelerates population growth, especially at low rates of feminization and at high fitness costs of the feminization itself (i.e. when feminization would otherwise not affect population dynamics much). When sex reversal ceases, low v yy mitigates the negative effects of feminization and can even prevent population extinction. Little is known about v yy in natural populations. The available models now need to be parametrized in order to better predict the long-term consequences of disturbed sex determination. This article is part of the themed issue ‘Adult sex ratios and reproductive decisions: a critical re-examination of sex differences in human and animal societies’.

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Weber, Ceri, and Blanche Capel. "Sex determination without sex chromosomes." Philosophical Transactions of the Royal Society B: Biological Sciences 376, no. 1832 (July 12, 2021): 20200109. http://dx.doi.org/10.1098/rstb.2020.0109.

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With or without sex chromosomes, sex determination is a synthesis of many molecular events that drives a community of cells towards a coordinated tissue fate. In this review, we will consider how a sex determination pathway can be engaged and stabilized without an inherited genetic determinant. In many reptilian species, no sex chromosomes have been identified, yet a conserved network of gene expression is initiated. Recent studies propose that epigenetic regulation mediates the effects of temperature on these genes through dynamic post-transcriptional, post-translational and metabolic pathways. It is likely that there is no singular regulator of sex determination, but rather an accumulation of molecular events that shift the scales towards one fate over another until a threshold is reached sufficient to maintain and stabilize one pathway and repress the alternative pathway. Investigations into the mechanism underlying sex determination without sex chromosomes should focus on cellular processes that are frequently activated by multiple stimuli or can synthesize multiple inputs and drive a coordinated response. This article is part of the theme issue ‘Challenging the paradigm in sex chromosome evolution: empirical and theoretical insights with a focus on vertebrates (Part I)’.

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A, Yano. "SEX IN SALMONIDS: FROM GONADAL DIFFERENTIATION TO GENETIC SEX DETERMINATION." Indian Journal of Science and Technology 4, s1 (June 20, 2011): 60–61. http://dx.doi.org/10.17485/ijst/2011/v4is.46.

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10

Mahowald, AnthonyP, Allen Lohe, Brian Oliver, Daniel Pauli, and Grace Wei. "Genetic control of germ cell sex determination." Cell Differentiation and Development 27 (August 1989): 122. http://dx.doi.org/10.1016/0922-3371(89)90378-x.

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11

Laverde, Lilia. "Sex determination problems in forensic genetic analysis." Forensic Science International: Genetics Supplement Series 4, no. 1 (2013): e350-e351. http://dx.doi.org/10.1016/j.fsigss.2013.10.178.

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12

Baker, Bruce S., Rodney N. Nagoshi, and Kenneth C. Burtis. "Molecular genetic aspects of sex determination inDrosophila." BioEssays 6, no. 2 (February 1987): 66–70. http://dx.doi.org/10.1002/bies.950060206.

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Perederii, N. A. "GENETIC SUBSTANTIATION OF DETERMINATION OF SEX. CONCEPT ABOUT SEX-LINKED INHERITANCE." Bulletin of Problems Biology and Medicine 1, no. 2 (2019): 14. http://dx.doi.org/10.29254/2077-4214-2019-1-2-149-14-19.

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14

Pipoly, Ivett, Veronika Bókony, Mark Kirkpatrick, Paul F. Donald, Tamás Székely, and András Liker. "The genetic sex-determination system predicts adult sex ratios in tetrapods." Nature 527, no. 7576 (October 7, 2015): 91–94. http://dx.doi.org/10.1038/nature15380.

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15

Werren, John H., and Melanie J. Hatcher. "Maternal-Zygotic Gene Conflict Over Sex Determination: Effects of Inbreeding." Genetics 155, no. 3 (July 1, 2000): 1469–79. http://dx.doi.org/10.1093/genetics/155.3.1469.

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Abstract There is growing evidence that sex determination in a wide range of organisms is determined by interactions between maternal-effect genes and zygotically expressing genes. Maternal-effect genes typically produce products (e.g., mRNA or proteins) that are placed into the egg during oogenesis and therefore depend upon maternal genotype. Here it is shown that maternal-effect and zygotic genes are subject to conflicting selective pressures over sex determination in species with partial inbreeding or subdivided populations. The optimal sex ratios for maternal-effect genes and zygotically expressing genes are derived for two models: partial inbreeding (sibmating) and subdivided populations with local mating in temporary demes (local mate competition). In both cases, maternal-effect genes are selected to bias sex determination more toward females than are zygotically expressed genes. By investigating the invasion criteria for zygotic genes in a population producing the maternal optimum (and vice versa), it is shown that genetic conflict occurs between these genes. Even relatively low levels of inbreeding or subdivision can result in maternalzygotic gene conflict over sex determination. The generality of maternal-zygotic gene conflict to sex determination evolution is discussed; such conflict should be considered in genetic studies of sex-determining mechanisms.

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16

Yang, Yujia, Tao Zhou, Yang Liu, Changxu Tian, Lisui Bao, Wenwen Wang, Yu Zhang, et al. "Identification of an Epigenetically Marked Locus within the Sex Determination Region of Channel Catfish." International Journal of Molecular Sciences 23, no. 10 (May 13, 2022): 5471. http://dx.doi.org/10.3390/ijms23105471.

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Channel catfish has an XY sex determination system. However, the X and Y chromosomes harbor an identical gene content of 950 genes each. In this study, we conducted comparative analyses of methylome and transcriptome of genetic males and genetic females before gonadal differentiation to provide insights into the mechanisms of sex determination. Differentially methylated CpG sites (DMCs) were predominantly identified on the sex chromosome, most notably within the sex determination region (SDR), although the overall methylation profiles across the entire genome were similar between genetic males and females. The drastic differences in methylation were located within the SDR at nucleotide position 14.0–20.3 Mb of the sex chromosome, making this region an epigenetically marked locus within the sex determination region. Most of the differentially methylated CpG sites were hypermethylated in females and hypomethylated in males, suggesting potential involvement of methylation modification in sex determination in channel catfish. Along with the differential methylation in the SDR, a number of differentially expressed genes within the SDR were also identified between genetic males and females, making them potential candidate genes for sex determination and differentiation in channel catfish.

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Veitia, R. A., M. Nunes, K. McElreavey, and M. Fellous. "Genetic basis of human sex determination: An overview." Theriogenology 47, no. 1 (January 1997): 83–91. http://dx.doi.org/10.1016/s0093-691x(96)00342-1.

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18

Piprek, R. P. "Genetic mechanisms underlying male sex determination in mammals." Journal of Applied Genetics 50, no. 4 (December 2009): 347–60. http://dx.doi.org/10.1007/bf03195693.

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19

Eicher, E. M., and L. L. Washburn. "Genetic Control of Primary Sex Determination in Mice." Annual Review of Genetics 20, no. 1 (December 1986): 327–60. http://dx.doi.org/10.1146/annurev.ge.20.120186.001551.

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20

Stévant, Isabelle, and Serge Nef. "Genetic Control of Gonadal Sex Determination and Development." Trends in Genetics 35, no. 5 (May 2019): 346–58. http://dx.doi.org/10.1016/j.tig.2019.02.004.

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21

Beye, Martin, Greg J. Hunt, Robert E. Page, M. Kim Fondrk, Lore Grohmann, and R. F. A. Moritz. "Unusually High Recombination Rate Detected in the Sex Locus Region of the Honey Bee (Apis mellifera)." Genetics 153, no. 4 (December 1, 1999): 1701–8. http://dx.doi.org/10.1093/genetics/153.4.1701.

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Abstract Sex determination in Hymenoptera is controlled by haplo-diploidy in which unfertilized eggs develop into fertile haploid males. A single sex determination locus with several complementary alleles was proposed for Hymenoptera [so-called complementary sex determination (CSD)]. Heterozygotes at the sex determination locus are normal, fertile females, whereas diploid zygotes that are homozygous develop into sterile males. This results in a strong heterozygote advantage, and the sex locus exhibits extreme polymorphism maintained by overdominant selection. We characterized the sex-determining region by genetic linkage and physical mapping analyses. Detailed linkage and physical mapping studies showed that the recombination rate is <44 kb/cM in the sex-determining region. Comparing genetic map distance along the linkage group III in three crosses revealed a large marker gap in the sex-determining region, suggesting that the recombination rate is high. We suggest that a “hotspot” for recombination has resulted here because of selection for combining favorable genotypes, and perhaps as a result of selection against deleterious mutations. The mapping data, based on long-range restriction mapping, suggest that the Q DNA-marker is within 20,000 bp of the sex locus, which should accelerate molecular analyses.

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22

Mitiku, Takele, and Chaluma Tujuba. "Sex Determination in Plants and its Contribution to Genetic Variability." EAS Journal of Biotechnology and Genetics 4, no. 4 (July 29, 2022): 47–54. http://dx.doi.org/10.36349/easjbg.2022.v04i04.002.

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Sex determination is a process that leads to the physical separation of male and female gamete-producing structures to different individuals of a species. Sexual reproduction is an ancient feature of eukaryote life, yet the sexes as we currently recognize them are relative late comers in the evolution of sex. 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. Sex chromosome evolution is intimately connected with Y chromosome degeneration. Most current understanding of how the distinctive properties of Y chromosomes evolved comes from theoretical work on the evolution of genomic regions with low recombination. The identification of sex chromosomes in plants is problematic because most of them do not differ morphologically from autosomes or from one another. For example in some species, such as Actinidia deliciosa var. deliciosa, X and Y chromosomes are too small to support observations of their distinguishing characteristics.) In the majority of plants, male and female organs are formed and developed simultaneously, but only up to a point when the growth of either set of sex organs is inhibited. Inhibition of sexual development can vary in character so that in most cases, sexual development is inhibited by the absence of cell division. In many species of bryophytes, heterothallism (unisexuality) has been correlated with the presence of sex chromosomes. Although the extent of heterothallism and sex chromosomes in the bryophytes has not been assessed systematically, this is the only known group of homosporous plants that uses sex chromosomes in sex determination. To date, studies of bryophyte sex determination have focused on the heterothallic liverwort Marchantia polymorpha. Many dioecious species, including those with well-developed sex chromosomes, ........

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23

Bókony, Veronika, Szilvia Kövér, Edina Nemesházi, András Liker, and Tamás Székely. "Climate-driven shifts in adult sex ratios via sex reversals: the type of sex determination matters." Philosophical Transactions of the Royal Society B: Biological Sciences 372, no. 1729 (July 31, 2017): 20160325. http://dx.doi.org/10.1098/rstb.2016.0325.

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Sex reversals whereby individuals of one genetic sex develop the phenotype of the opposite sex occur in ectothermic vertebrates with genetic sex-determination systems that are sensitive to extreme temperatures during sexual differentiation. Recent rises in global temperatures have led researchers to predict that sex reversals will become more common, resulting in the distortion of many populations' sex ratios. However, it is unclear whether susceptibility to climate-driven sex-ratio shifts depends on the type of sex determination that varies across species. First, we show here using individual-based theoretical models that XX/XY (male-heterogametic) and ZZ/ZW (female-heterogametic) sex-determination systems can respond differentially to temperature-induced sex reversals. Interestingly, the impacts of climate warming on adult sex ratio (ASR) depend on the effects of both genotypic and phenotypic sex on survival and reproduction. Second, we analyse the temporal changes of ASR in natural amphibian populations using data from the literature, and find that ASR shifted towards males in ZZ/ZW species over the past 60 years, but did not change significantly in XX/XY species. Our results highlight the fact that we need a better understanding of the interactions between genetic and environmental sex-determining mechanisms to predict the responses of ectotherms to climate change and the associated extinction risks. This article is part of the themed issue ‘Adult sex ratios and reproductive decisions: a critical re-examination of sex differences in human and animal societies’.

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Oliver, B., D. Pauli, and A. P. Mahowald. "Genetic evidence that the ovo locus is involved in Drosophila germ line sex determination." Genetics 125, no. 3 (July 1, 1990): 535–50. http://dx.doi.org/10.1093/genetics/125.3.535.

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Abstract Zygotically contributed ovo gene product is required for the survival of female germ cells in Drosophila melanogaster. Trans-allelic combinations of weak and dominant ovo mutations (ovoD) result in viable germ cells that appear to be partially transformed from female to male sexual identity. The ovoD2 mutation is partially suppressed by many Sex-lethal alleles that affect the soma, while those that affect only the germ line fail to interact with ovoD2. One of two loss-of-function ovo alleles is suppressed by a loss-of-function Sex-lethal allele. Because ovo mutations are germ line dependent, it is likely that ovo is suppressed by way of communication between the somatic and germ lines. A loss-of-function allele of ovo is epistatic to germ line dependent mutations in Sex-lethal. The germ line dependent sex determination mutation, sans fille, and ovoD mutations show a dominant synergistic interaction resulting in partial transformation of germ line sexual identity. The ovo locus appears to be involved in germ line sex determination and is linked in some manner to sex determination in the soma.

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25

Hayes, Tyrone B. "Sex determination and primary sex differentiation in amphibians: Genetic and developmental mechanisms." Journal of Experimental Zoology 281, no. 5 (August 1, 1998): 373–99. http://dx.doi.org/10.1002/(sici)1097-010x(19980801)281:5<373::aid-jez4>3.0.co;2-l.

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26

Eberle, James R., and Jo Ann Banks. "Genetic Interactions Among Sex-Determining Genes in the Fern Ceratopteris richardii." Genetics 142, no. 3 (March 1, 1996): 973–85. http://dx.doi.org/10.1093/genetics/142.3.973.

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Abstract Haploid gametophytes of the fern Ceratopteris are either male or hermaphroditic. The determinant of sex type is the pheromone antheridiogen, which is secreted by the hermaphrodite and directs male development of young, sexually undetermined gametophytes. Three phenotypic classes of mutations that affect sex-determination were previously isolated and include the hermaphroditic (her), the transformer (tra) and feminization (fem) mutations. In the present study, linkage analysis and tests of epistasis among the different mutants have been performed to assess the possible interactions among these genes. The results indicate that sex determination in Ceratopteris involves at least seven interacting genes in addition to antheridiogen, the primary sex-determining signal. Two models describing how antheridiogen may influence the activity states of these genes and the sex of the gametophyte are discussed.

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27

Cornetti, Luca, and Dieter Ebert. "No evidence for genetic sex determination in Daphnia magna." Royal Society Open Science 8, no. 6 (June 2021): 202292. http://dx.doi.org/10.1098/rsos.202292.

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Mechanisms of sex determination (SD) differ widely across the tree of life. In genotypic sex determination (GSD), genetic elements determine whether individuals are male or female, while in environmental sex determination (ESD), external cues control the sex of the offspring. In cyclical parthenogens, females produce mostly asexual daughters, but environmental stimuli such as crowding, temperature or photoperiod may cause them to produce sons. In aphids, sons are induced by ESD, even though GSD is present, with females carrying two X chromosomes and males only one (X0 SD system). By contrast, although ESD exists in Daphnia , the two sexes were suggested to be genetically identical, based on a 1972 study on Daphnia magna (2n=20) that used three allozyme markers. This study cannot, however, rule out an X0 system, as all three markers may be located on autosomes. Motivated by the life cycle similarities of Daphnia and aphids, and the absence of karyotype information for Daphnia males, we tested for GSD (homomorphic sex chromosomes and X0) systems in D. magna using a whole-genome approach by comparing males and females of three genotypes. Our results confirm the absence of haploid chromosomes or haploid genomic regions in D. magna males as well as the absence of sex-linked genomic regions and sex-specific single-nucleotide polymorphisms. Within the limitations of the three studied populations here and the methods used, we suggest that our results make the possibility of genetic differences among sexes in the widely used Daphnia model system very unlikely.

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Waters, Paul D., and Jennifer A. Marshall Graves. "Monotreme sex chromosomes - implications for the evolution of amniote sex chromosomes." Reproduction, Fertility and Development 21, no. 8 (2009): 943. http://dx.doi.org/10.1071/rd09250.

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In vertebrates, a highly conserved pathway of genetic events controls male and female development, to the extent that many genes involved in human sex determination are also involved in fish sex determination. Surprisingly, the master switch to this pathway, which intuitively could be considered the most critical step, is inconsistent between vertebrate taxa. Interspersed in the vertebrate tree there are species that determine sex by environmental cues such as the temperature at which eggs are incubated, and then there are genetic sex-determination systems, with male heterogametic species (XY systems) and female heterogametic species (ZW systems), some of which have heteromorphic, and others homomorphic, sex chromosomes. This plasticity of sex-determining switches in vertebrates has made tracking the events of sex chromosome evolution in amniotes a daunting task, but comparative gene mapping is beginning to reveal some striking similarities across even distant taxa. In particular, the recent completion of the platypus genome sequence has completely changed our understanding of when the therian mammal X and Y chromosomes first arose (they are up to 150 million years younger than previously thought) and has also revealed the unexpected insight that sex determination of the amniote ancestor might have been controlled by a bird-like ZW system.

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Hime, Paul M., Jeffrey T. Briggler, Joshua S. Reece, and David W. Weisrock. "Genomic Data Reveal Conserved Female Heterogamety in Giant Salamanders with Gigantic Nuclear Genomes." G3: Genes|Genomes|Genetics 9, no. 10 (August 22, 2019): 3467–76. http://dx.doi.org/10.1534/g3.119.400556.

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Systems of genetic sex determination and the homology of sex chromosomes in different taxa vary greatly across vertebrates. Much progress remains to be made in understanding systems of genetic sex determination in non-model organisms, especially those with homomorphic sex chromosomes and/or large genomes. We used reduced representation genome sequencing to investigate genetic sex determination systems in the salamander family Cryptobranchidae (genera Cryptobranchus and Andrias), which typifies both of these inherent difficulties. We tested hypotheses of male- or female-heterogamety by sequencing hundreds of thousands of anonymous genomic regions in a panel of known-sex cryptobranchids and characterized patterns of presence/absence, inferred zygosity, and depth of coverage to identify sex-linked regions of these 56 gigabase genomes. Our results strongly support the hypothesis that all cryptobranchid species possess homologous systems of female heterogamety, despite maintenance of homomorphic sex chromosomes over nearly 60 million years. Additionally, we report a robust, non-invasive genetic assay for sex diagnosis in Cryptobranchus and Andrias which may have great utility for conservation efforts with these endangered salamanders. Co-amplification of these W-linked markers in both cryptobranchid genera provides evidence for long-term sex chromosome stasis in one of the most divergent salamander lineages. These findings inform hypotheses about the ancestral mode of sex determination in salamanders, but suggest that comparative data from other salamander families are needed. Our results further demonstrate that massive genomes are not necessarily a barrier to effective genome-wide sequencing and that the resulting data can be highly informative about sex determination systems in taxa with homomorphic sex chromosomes.

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Oliver, B., N. Perrimon, and A. P. Mahowald. "Genetic evidence that the sans fille locus is involved in Drosophila sex determination." Genetics 120, no. 1 (September 1, 1988): 159–71. http://dx.doi.org/10.1093/genetics/120.1.159.

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Abstract Females homozygous for sans fille1621 (= fs(1)1621) have an abnormal germ line. Instead of producing eggs, the germ-line cells proliferate forming ovarian tumors or excessive numbers of nurse cells. The Sex-lethal gene product(s) regulate the branch point of the dosage compensation and sex determination pathways in the soma. The role of Sex-lethal in the germ line is not clear but the germ line of females homozygous for female sterile Sex-lethal alleles or germ-line clones of loss-of-function alleles are characterized by ovarian tumors. Females heterozygous for sans fille1621 or Sex-lethal are phenotypically wild type with respect to viability and fertility but females trans-heterozygous for sans fille1621 and Sex-lethal show ovarian tumors, somatic sexual transformations, and greatly reduced viability.

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Bloomfield, Gareth, Jason Skelton, Alasdair Ivens, Yoshimasa Tanaka, and Robert R. Kay. "Sex Determination in the Social Amoeba Dictyostelium discoideum." Science 330, no. 6010 (December 9, 2010): 1533–36. http://dx.doi.org/10.1126/science.1197423.

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The genetics of sex determination remain mysterious in many organisms, including some that are otherwise well studied. Here we report the discovery and analysis of the mating-type locus of the model organism Dictyostelium discoideum. Three forms of a single genetic locus specify this species' three mating types: two versions of the locus are entirely different in sequence, and the third resembles a composite of the other two. Single, unrelated genes are sufficient to determine two of the mating types, whereas homologs of both these genes are required in the composite type. The key genes encode polypeptides that possess no recognizable similarity to established protein families. Sex determination in the social amoebae thus appears to use regulators that are unrelated to any others currently known.

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Shevchuk, T. I., S. S. Khliestova, S. M. Horbatiuk, T. B. Vasenko, and O. V. Sprut. "Molecular genetic mechanisms, human sex determination levels and disorders of sexual differentiation." Reports of Vinnytsia National Medical University 23, no. 4 (December 30, 2019): 717–22. http://dx.doi.org/10.31393/reports-vnmedical-2019-23(4)-27.

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Annotation. The purpose of this work — an analysis and a summary of results of scientific research on problems of molecular genetic mechanisms and human sex determination levels. Literature analysis was performed in scientometric databases of Google Scholar, MedLine, Web of Science, Scopus for 2014–2018. Sex determination is a complex multi-stage process secured by functional integration of genetic determinants, products thereof, and the conditions of individual development for its realization. Sexual differentiation occurs at genetic, gonadal, hormonal, somatic, psychological and social levels, and disorders at any of them may lead to deviations from normal sex determination.

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Janzen, F. J. "Heritable variation for sex ratio under environmental sex determination in the common snapping turtle (Chelydra serpentina)." Genetics 131, no. 1 (May 1, 1992): 155–61. http://dx.doi.org/10.1093/genetics/131.1.155.

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Abstract The magnitude of quantitative genetic variation for primary sex ratio was measured in families extracted from a natural population of the common snapping turtle (Chelydra serpentina), which possesses temperature-dependent sex determination (TSD). Eggs were incubated at three temperatures that produced mixed sex ratios. This experimental design provided estimates of the heritability of sex ratio in multiple environments and a test of the hypothesis that genotype x environment (G x E) interactions may be maintaining genetic variation for sex ratio in this population of C. serpentina. Substantial quantitative genetic variation for primary sex ratio was detected in all experimental treatments. These results in conjunction with the occurrence of TSD in this species provide support for three critical assumptions of Fisher's theory for the microevolution of sex ratio. There were statistically significant effects of family and incubation temperature on sex ratio, but no significant interaction was observed. Estimates of the genetic correlations of sex ratio across environments were highly positive and essentially indistinguishable from + 1. These latter two findings suggest that G x E interaction is not the mechanism maintaining genetic variation for sex ratio in this system. Finally, although substantial heritable variation exists for primary sex ratio of C. serpentina under constant temperatures, estimates of the effective heritability of primary sex ratio in nature are approximately an order of magnitude smaller. Small effective heritability and a long generation time in C. serpentina imply that evolution of sex ratios would be slow even in response to strong selection by, among other potential agents, any rapid and/or substantial shifts in local temperatures, including those produced by changes in the global climate.

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Kudryavtsev, I. V., L. D. Safronova, and P. I. Kudryavtsev. "Genetic Control of Spermatogenesis and Sex Determination in Mammals." Russian Journal of Developmental Biology 34, no. 6 (November 2003): 337–46. http://dx.doi.org/10.1023/b:rudo.0000007888.44166.cb.

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35

Baker, B. S., K. Burtis, T. Goralski, W. Mattox, and R. Nagoshi. "Molecular genetic aspects of sex determination in Drosophila melanogaster." Genome 31, no. 2 (January 15, 1989): 638–45. http://dx.doi.org/10.1139/g89-117.

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The molecular analyses of three of the regulatory genes (transformer (tra), doublesex (dsx), and transformer-2 (tra-2)) controlling sexual differentiation in Drosophila have demonstrated that the control of RNA processing has a major role in regulating somatic sexual differentiation. The activities of both the tra and dsx genes are controlled at the level of RNA processing. In the case of tra the use of different splice acceptor sites results in a functional transcript being produced only in females, whereas at dsx the use of different splice acceptor sites in the two sexes results in the production of transcripts that encode different proteins in males and females. The tra-2 gene has been shown to be necessary for the processing of the dsx pre-mRNA in females and the conceptual translation of a tra-2 cDNA shows that it encodes a protein with similarity to a family of RNA-binding proteins which includes known splicesome components. We previously suggested that the pattern of sexual differentiation and dosage compensation characteristic of a male was a default regulatory state. The findings reviewed here provide a molecular basis for this default expression in males as well as an insight into how females differ from males in control of the expression of these genes. For both the tra and dsx genes the molecular basis of their male (default) state of expression appears to be the processing of their transcripts by the housekeeping RNA splicing machinery. In females the specification of the alternative pattern of splicing at both tra and dsx is by the sex determination regulatory genes that function upstream of them in this regulatory cascade. It seems likely that the activities of these sex determination regulatory genes in females do not provide all of the information that is necessary for proper splicing of the transcripts of the genes downstream of them. Rather we imagine that the products of the Sxl, tra, and tra-2 genes are acting to impose a specificity on the basic cellular splicing machinery.Key words: Drosophila melanogaster, sex determination, sexual differentiation.

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36

Hodgkin, Jonathan. "Problems and paradigms: Genetic sex determination mechanism and evolution." BioEssays 14, no. 4 (April 1992): 253–61. http://dx.doi.org/10.1002/bies.950140409.

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Li, Qinglin, and Baoshen Liu. "Genetic regulation of maize flower development and sex determination." Planta 245, no. 1 (October 21, 2016): 1–14. http://dx.doi.org/10.1007/s00425-016-2607-2.

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Ayre, David J. "Evidence for genetic determination of sex in Actinia tenebrosa." Journal of Experimental Marine Biology and Ecology 116, no. 1 (April 1988): 23–34. http://dx.doi.org/10.1016/0022-0981(88)90243-2.

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Jiménez, Rafael, and Miguel Burgos. "Mammalian sex determination: joining pieces of the genetic puzzle." BioEssays 20, no. 9 (December 7, 1998): 696–99. http://dx.doi.org/10.1002/(sici)1521-1878(199809)20:9<696::aid-bies2>3.0.co;2-f.

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Naraballobh, Watcharapong, Nanthana Pothakam, Worrarak Norseeda, Noppasin Sommit, Tawatchai Teltathum, Hien Van Doan, Korawan Sringarm, Trisadee Khamlor, and Supamit Mekchay. "Association of genetic markers with sex determination in Thai red tilapia." Veterinary Integrative Sciences 20, no. 1 (September 6, 2021): 73–83. http://dx.doi.org/10.12982/vis.2022.007.

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The objectives of this study were to verify the polymorphism on sex-linked marker loci and to assess their associations with phenotypic sex characteristics in red tilapia. Four sex-linked genetic markers of Amh, SCAR4, SCAR5, and Oni3161 were genotyped in the Thai red tilapia population. The Amh marker was significantly associated with the phenotypic sex of red tilapia with an accuracy of 46.2%. No significant association of SCAR4, SCAR5, and Oni3161 marker polymorphisms with phenotypic sex characteristics was observed in this study. However, the combinations of these two, three, and four markers were increasingly associated with phenotypic sex characteristics for red tilapia with an accuracy of 62.8, 68.4, and 72.4%, respectively. These results indicate that these combined genetic markers were associated with the phenotypic sex of red tilapias. These findings confirmed the importance of these genetic markers as candidate markers for sex determination in the Thai red tilapia population.

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Johnson, Nicholas S., William D. Swink, and Travis O. Brenden. "Field study suggests that sex determination in sea lamprey is directly influenced by larval growth rate." Proceedings of the Royal Society B: Biological Sciences 284, no. 1851 (March 29, 2017): 20170262. http://dx.doi.org/10.1098/rspb.2017.0262.

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Sex determination mechanisms in fishes lie along a genetic-environmental continuum and thereby offer opportunities to understand how physiology and environment interact to determine sex. Mechanisms and ecological consequences of sex determination in fishes are primarily garnered from teleosts, with little investigation into basal fishes. We tagged and released larval sea lamprey ( Petromyzon marinus ) into unproductive lake and productive stream environments. Sex ratios produced from these environments were quantified by recapturing tagged individuals as adults. Sex ratios from unproductive and productive environments were initially similar. However, sex ratios soon diverged, with unproductive environments becoming increasingly male-skewed and productive environments becoming less male-skewed with time. We hypothesize that slower growth in unproductive environments contributed to the sex ratio differences by directly influencing sex determination. To the best of our knowledge, this is the first study suggesting that growth rate in a fish species directly influences sex determination; other studies have suggested that the environmental variables to which sex determination is sensitive (e.g. density, temperature) act as cues for favourable or unfavourable growth conditions. Understanding mechanisms of sex determination in lampreys may provide unique insight into the underlying principles of sex determination in other vertebrates and provide innovative approaches for their management where valued and invasive.

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Whiteley, Sarah L., Arthur Georges, Vera Weisbecker, Lisa E. Schwanz, and Clare E. Holleley. "Ovotestes suggest cryptic genetic influence in a reptile model for temperature-dependent sex determination." Proceedings of the Royal Society B: Biological Sciences 288, no. 1943 (January 20, 2021): 20202819. http://dx.doi.org/10.1098/rspb.2020.2819.

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Sex determination and differentiation in reptiles is complex. Temperature-dependent sex determination (TSD), genetic sex determination (GSD) and the interaction of both environmental and genetic cues (sex reversal) can drive the development of sexual phenotypes. The jacky dragon ( Amphibolurus muricatus ) is an attractive model species for the study of gene–environment interactions because it displays a form of Type II TSD, where female-biased sex ratios are observed at extreme incubation temperatures and approximately 50 : 50 sex ratios occur at intermediate temperatures. This response to temperature has been proposed to occur due to underlying sex determining loci, the influence of which is overridden at extreme temperatures. Thus, sex reversal at extreme temperatures is predicted to produce the female-biased sex ratios observed in A. muricatus . The occurrence of ovotestes during development is a cellular marker of temperature sex reversal in a closely related species Pogona vitticeps . Here, we present the first developmental data for A. muricatus , and show that ovotestes occur at frequencies consistent with a mode of sex determination that is intermediate between GSD and TSD. This is the first evidence suggestive of underlying unidentified sex determining loci in a species that has long been used as a model for TSD.

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Hodgkin, Jonathan. "Exploring the Envelope: Systematic Alteration in the Sex-Determination System of the Nematode Caenorhabditis elegans." Genetics 162, no. 2 (October 1, 2002): 767–80. http://dx.doi.org/10.1093/genetics/162.2.767.

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Abstract The natural sexes of the nematode Caenorhabditis elegans are the self-fertilizing hermaphrodite (XX) and the male (XO). The underlying genetic pathway controlling sexual phenotype has been extensively investigated. Mutations in key regulatory genes have been used to create a series of stable populations in which sex is determined not by X chromosome dosage, but in a variety of other ways, many of which mimic the diverse sex-determination systems found in different animal species. Most of these artificial strains have male and female sexes. Each of seven autosomal genes can be made to adopt a role as the primary determinant of sex, and each of the five autosomes can carry the primary determinant, thereby becoming a sex chromosome. Strains with sex determination by fragment chromosomes, episomes, compound chromosomes, or environmental factors have also been constructed. The creation of these strains demonstrates the ease with which one sex-determination system can be transformed into another.

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Shi, Chenggang, Xiaotong Wu, Liuru Su, Chaoqi Shang, Xuewen Li, Yiquan Wang, and Guang Li. "A ZZ/ZW Sex Chromosome System in Cephalochordate Amphioxus." Genetics 214, no. 3 (January 24, 2020): 617–22. http://dx.doi.org/10.1534/genetics.120.303051.

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Sex determination is remarkably variable among animals with examples of environmental sex determination, male heterogametic (XX/XY) and female heterogametic (ZZ/ZW) chromosomal sex determination, and other genetic mechanisms. The cephalochordate amphioxus occupies a key phylogenetic position as a basal chordate and outgroup to vertebrates, but its sex determination mechanism is unknown. During the course of generating Nodal mutants with transcription activator-like effector nucleases (TALENs) in amphioxus Branchiostoma floridae, serendipitously, we generated three mutant strains that reveal the sex determination mechanism of this animal. In one mutant strain, all heterozygous mutant offspring over three generations were female and all wild-type descendants were male. This pattern suggests the Nodal allele targeted is on a female-specific W chromosome. A second mutant showed the same W-linked inheritance pattern, with a female heterozygote passing the mutation only to daughters. In a third mutant strain, both male and female offspring could be heterozygous, but a female heterozygote passed the mutation only to sons. This pattern is consistent with the targeted allele being on a Z chromosome. We found an indel polymorphism linked to a Nodal allele present in most females, but no males in our cultured population. Together, these results indicate that Nodal is sex chromosome-linked in B. floridae, and that B. floridae has a ZZ/ZW sex chromosome system.

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Maan H. Salih. "Molecular Markers for Human Sex Determination in Forensic Genetics Analysis." International Journal for Research in Applied Sciences and Biotechnology 8, no. 6 (November 20, 2021): 25–30. http://dx.doi.org/10.31033/ijrasb.8.6.6.

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Sex determination is indispensable in forensic anthropology, sexual disorder, and also as part of large-scale genetic population studies. The purpose of this investigation is to determine the human sex from whole blood using multiplex PCR analysis. Blood samples from 75 male and 70 female healthy volunteers were taken from Tikrit city, Iraq. Our study identified a reliable set of three primer locus, namely SRY, ALT1 (internal control) and amelogenin locus. The SRY primer on the Y chromosome showed a 254 bp of PCR product, with 100% accuracy for human male identification. Thus, the pair of SRY primers was considered a strong genetic marker for human sex identification. Amelogenin regions in the Y chromosome showed a true positive band (236 bp) with 100% accuracy on sex identification. Amelogenin regions in X chromosome also showed positive bands (330 bp) in female samples and positive band in male samples except for two samples showed a negative band (null bands). The most obvious finding from this study is that multiplex PCR of ALT1 and SRY is consider as a reliable genetic marker for human sex identification. The research has also shown that amelogenin is good genetic marker for human sex identification.

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She, Zhen-Yu, and Wan-Xi Yang. "Molecular mechanisms involved in mammalian primary sex determination." Journal of Molecular Endocrinology 53, no. 1 (June 13, 2014): R21—R37. http://dx.doi.org/10.1530/jme-14-0018.

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Sex determination refers to the developmental decision that directs the bipotential genital ridge to develop as a testis or an ovary. Genetic studies on mice and humans have led to crucial advances in understanding the molecular fundamentals of sex determination and the mutually antagonistic signaling pathway. In this review, we summarize the current molecular mechanisms of sex determination by focusing on the known critical sex determining genes and their related signaling pathways in mammalian vertebrates from mice to humans. We also discuss the underlying delicate balance between testis and ovary sex determination pathways, concentrating on the antagonisms between major sex determining genes.

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TARONE, AARON M., YASEEN M. NASSER, and SERGEY V. NUZHDIN. "Genetic variation for expression of the sex determination pathway genes in Drosophila melanogaster." Genetical Research 86, no. 1 (August 2005): 31–40. http://dx.doi.org/10.1017/s0016672305007706.

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Sequence polymorphisms result in phenotypic variation through the pathways of interacting genes and their products. We focused on transcript-level variation in the splicing pathway for sex determination – a model network defining downstream morphological characters that are dimorphic between males and females. Expression of Sex lethal, transformer, transformer2, doublesex, intersex and hermaphrodite was assayed with quantitative RT-PCR in 0- to 1-day-old adult males and females of 36 Drosophila melanogaster inbred lines. Abundant genetic variation in the transcript levels was found for all genes. Sex-specific splices had high concentrations in the appropriate sex. In the other sex, low but detectable concentrations were also observed. Abundances of splices strongly co-varied between sexes among genotypes, with little genetic variation strictly limited to one sex. The level of sexually dimorphic Yolk protein1 expression – an immediate downstream target of the pathway – was modelled as the target phenotype of the upstream sex determination pathway. Substantial genetic variation in this phenotype in males was explained by leaky splicing of female-specific transcripts. If higher transcript levels of the appropriate isoform of sex determination genes are beneficial in a sex, then stronger leakiness of the inappropriate transcript might be deleterious, perhaps contributing to the fitness trade-offs previously observed between the sexes.

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Radder, Rajkumar S., Alexander E. Quinn, Arthur Georges, Stephen D. Sarre, and Richard Shine. "Genetic evidence for co-occurrence of chromosomal and thermal sex-determining systems in a lizard." Biology Letters 4, no. 2 (December 18, 2007): 176–78. http://dx.doi.org/10.1098/rsbl.2007.0583.

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An individual's sex depends upon its genes (genotypic sex determination or GSD) in birds and mammals, but reptiles are more complex: some species have GSD whereas in others, nest temperatures determine offspring sex (temperature-dependent sex determination). Previous studies suggested that montane scincid lizards ( Bassiana duperreyi , Scincidae) possess both of these systems simultaneously: offspring sex is determined by heteromorphic sex chromosomes (XX–XY system) in most natural nests, but sex ratio shifts suggest that temperatures override chromosomal sex in cool nests to generate phenotypically male offspring even from XX eggs. We now provide direct evidence that incubation temperatures can sex-reverse genotypically female offspring, using a DNA sex marker. Application of exogenous hormone to eggs also can sex-reverse offspring (oestradiol application produces XY as well as XX females). In conjunction with recent work on a distantly related lizard taxon, our study challenges the notion of a fundamental dichotomy between genetic and thermally determined sex determination, and hence the validity of current classification schemes for sex-determining systems in reptiles.

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Adolfi, Mateus Contar, Amaury Herpin, and Manfred Schartl. "The replaceable master of sex determination: bottom-up hypothesis revisited." Philosophical Transactions of the Royal Society B: Biological Sciences 376, no. 1832 (July 12, 2021): 20200090. http://dx.doi.org/10.1098/rstb.2020.0090.

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Different group of vertebrates and invertebrates demonstrate an amazing diversity of gene regulations not only at the top but also at the bottom of the sex determination genetic network. As early as 1995, based on emerging findings in Drosophila melanogaster and Caenorhabditis elegans , Wilkins suggested that the evolution of the sex determination pathway evolved from the bottom to the top of the hierarchy. Based on our current knowledge, this review revisits the ‘bottom-up’ hypothesis and applies its logic to vertebrates. The basic operation of the determination network is through the dynamics of the opposing male and female pathways together with a persistent need to maintain the sexual identity of the cells of the gonad up to the reproductive stage in adults. The sex-determining trigger circumstantially acts from outside the genetic network, but the regulatory network is not built around it as a main node, thus maintaining the genetic structure of the network. New sex-promoting genes arise either through allelic diversification or gene duplication and act specially at the sex-determination period, without integration into the complete network. Due to this peripheral position the new regulator is not an indispensable component of the sex-determining network and can be easily replaced. This article is part of the theme issue ‘Challenging the paradigm in sex chromosome evolution: empirical and theoretical insights with a focus on vertebrates (Part I)’.

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Ovchinnikov, I. V., O. I. Ovtchinnikova, E. B. Druzina, A. P. Buzhilova, and N. A. Makarov. "Molecular genetic sex determination of Medieval human remains from North Russia: Comparison with archaeological and anthropological criteria." Anthropologischer Anzeiger 56, no. 1 (March 24, 1998): 7–15. http://dx.doi.org/10.1127/anthranz/56/1998/7.

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Journal articles on the topic 'Sex determination, Genetic'

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