scholarly journals What a Difference an X or Y Makes: Sex Chromosomes, Gene Dose, and Epigenetics in Sexual Differentiation

2012 ◽  
pp. 67-88 ◽  
Author(s):  
Arthur P. Arnold ◽  
Xuqi Chen ◽  
Yuichiro Itoh
Keyword(s):  
Sex Chromosomes ◽  
Sexual Differentiation ◽  
Gene Dose

THE SEX CHROMOSOMES IN ABNORMALITIES OF SEXUAL DIFFERENTIATION

1962 ◽  
Vol 243 (6) ◽  
pp. 790-807 ◽  
Author(s):  
ALFRED M. BONGIOVANNI ◽  
ANGELO M. DIGEORGE ◽  
HARVEY D. KLEVIT
Keyword(s):  
Sex Chromosomes ◽  
Sexual Differentiation

scholarly journals Evolution of dosage compensation does not depend on genomic background

2020 ◽  
Author(s):  
Michail Rovatsos ◽  
Lukáš Kratochvíl
Keyword(s):  
Dosage Compensation ◽  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Genomic Region ◽  
Gene Copy ◽  
Gene Dose ◽  
Copy Numbers ◽  
Compensation Mechanisms ◽  
Gene Copy Numbers ◽  
Softshell Turtles

AbstractOrganisms evolved various mechanisms to cope with the differences in the gene copy numbers between sexes caused by degeneration of Y and W sex chromosomes. Complete dosage compensation or at least expression balance between sexes was reported predominantly in XX/XY, but rarely in ZZ/ZW systems. However, this often-reported pattern is based on comparisons of lineages where sex chromosomes evolved from non-homologous genomic regions, potentially differing in sensitivity to differences in gene copy numbers. Here we document that two reptilian lineages (XX/XY iguanas and ZZ/ZW softshell turtles), which independently co-opted the same ancestral genomic region for the function of sex chromosomes, evolved different gene dose regulatory mechanisms. The independent co-option of the same genomic region for the role of sex chromosome as in the iguanas and the softshell turtles offers a great opportunity for testing evolutionary scenarios on the sex chromosome evolution under the explicit control for the genomic background and for gene identity. We showed that the parallel loss of functional genes from the Y chromosome of the green anole and the W chromosome of the Florida softshell turtle led to different dosage compensation mechanisms. Our approach controlling for genetic background thus does not support that the variability in the regulation of the gene dose differences is a consequence of ancestral autosomal gene content.

scholarly journals Do male and female heterogamety really differ in expression regulation? Lack of global dosage balance in pygopodid geckos

2021 ◽  
Vol 376 (1833) ◽  
pp. 20200102 ◽  
Author(s):  
Michail Rovatsos ◽  
Tony Gamble ◽  
Stuart V. Nielsen ◽  
Arthur Georges ◽  
Tariq Ezaz ◽  
...  
Keyword(s):  
Sex Determination ◽  
Sex Chromosomes ◽  
Gene Dosage ◽  
Regulatory Mechanisms ◽  
Gene Copy ◽  
Male And Female ◽  
Gene Dose ◽  
Female Heterogamety ◽  
Dosage Balance ◽  
Male Heterogamety

Differentiation of sex chromosomes is thought to have evolved with cessation of recombination and subsequent loss of genes from the degenerated partner (Y and W) of sex chromosomes, which in turn leads to imbalance of gene dosage between sexes. Based on work with traditional model species, theory suggests that unequal gene copy numbers lead to the evolution of mechanisms to counter this imbalance. Dosage compensation, or at least achieving dosage balance in expression of sex-linked genes between sexes, has largely been documented in lineages with male heterogamety (XX/XY sex determination), while ZZ/ZW systems are assumed to be usually associated with the lack of chromosome-wide gene dose regulatory mechanisms. Here, we document that although the pygopodid geckos evolved male heterogamety with a degenerated Y chromosome 32–72 Ma, one species in particular, Burton's legless lizard ( Lialis burtonis ), does not possess dosage balance in the expression of genes in its X-specific region. We summarize studies on gene dose regulatory mechanisms in animals and conclude that there is in them no significant dichotomy between male and female heterogamety. We speculate that gene dose regulatory mechanisms are likely to be related to the general mechanisms of sex determination instead of type of heterogamety. 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 II)’.

scholarly journals A frog with three sex chromosomes that co-mingle together in nature: Xenopus tropicalis has a degenerate W and a Y that evolved from a Z chromosome

PLoS Genetics ◽  
2020 ◽  
Vol 16 (11) ◽  
pp. e1009121
Author(s):  
Benjamin L. S. Furman ◽  
Caroline M. S. Cauret ◽  
Martin Knytl ◽  
Xue-Ying Song ◽  
Tharindu Premachandra ◽  
...  
Keyword(s):  
Sex Differences ◽  
Y Chromosome ◽  
Sex Chromosomes ◽  
Sexual Differentiation ◽  
Sex Chromosome ◽  
Xenopus Tropicalis ◽  
Z Chromosome ◽  
W Chromosome ◽  
Recombination Suppression ◽  
Determining Factor

In many species, sexual differentiation is a vital prelude to reproduction, and disruption of this process can have severe fitness effects, including sterility. It is thus interesting that genetic systems governing sexual differentiation vary among—and even within—species. To understand these systems more, we investigated a rare example of a frog with three sex chromosomes: the Western clawed frog, Xenopus tropicalis. We demonstrate that natural populations from the western and eastern edges of Ghana have a young Y chromosome, and that a male-determining factor on this Y chromosome is in a very similar genomic location as a previously known female-determining factor on the W chromosome. Nucleotide polymorphism of expressed transcripts suggests genetic degeneration on the W chromosome, emergence of a new Y chromosome from an ancestral Z chromosome, and natural co-mingling of the W, Z, and Y chromosomes in the same population. Compared to the rest of the genome, a small sex-associated portion of the sex chromosomes has a 50-fold enrichment of transcripts with male-biased expression during early gonadal differentiation. Additionally, X. tropicalis has sex-differences in the rates and genomic locations of recombination events during gametogenesis that are similar to at least two other Xenopus species, which suggests that sex differences in recombination are genus-wide. These findings are consistent with theoretical expectations associated with recombination suppression on sex chromosomes, demonstrate that several characteristics of old and established sex chromosomes (e.g., nucleotide divergence, sex biased expression) can arise well before sex chromosomes become cytogenetically distinguished, and show how these characteristics can have lingering consequences that are carried forward through sex chromosome turnovers.

scholarly journals Minireview: Sex Chromosomes and Brain Sexual Differentiation

Endocrinology ◽  
2004 ◽  
Vol 145 (3) ◽  
pp. 1057-1062 ◽  
Author(s):  
Arthur P. Arnold ◽  
Jun Xu ◽  
William Grisham ◽  
Xuqi Chen ◽  
Yong-Hwan Kim ◽  
...  
Keyword(s):  
Sex Chromosomes ◽  
Sexual Differentiation ◽  
Brain Sexual Differentiation

scholarly journals Thermosensitive sex chromosome dosage compensation in ZZ/ZW softshell turtles, Apalone spinifera

2021 ◽  
Vol 376 (1833) ◽  
pp. 20200101
Author(s):  
Basanta Bista ◽  
Zhiqiang Wu ◽  
Robert Literman ◽  
Nicole Valenzuela
Keyword(s):  
Dosage Compensation ◽  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Context Effects ◽  
Model Organisms ◽  
Transcriptional Networks ◽  
Type I ◽  
Gene Dose ◽  
Type Iv ◽  
Apalone Spinifera

Sex chromosome dosage compensation (SCDC) overcomes gene-dose imbalances that disturb transcriptional networks, as when ZW females or XY males are hemizygous for Z/X genes. Mounting data from non-model organisms reveal diverse SCDC mechanisms, yet their evolution remains obscure, because most informative lineages with variable sex chromosomes are unstudied. Here, we discovered SCDC in turtles and an unprecedented thermosensitive SCDC in eukaryotes. We contrasted RNA-seq expression of Z-genes, their autosomal orthologues, and control autosomal genes in Apalone spinifera (ZZ/ZW) and Chrysemys picta turtles with temperature-dependent sex determination (TSD) (proxy for ancestral expression). This approach disentangled chromosomal context effects on Z-linked and autosomal expression, from lineage effects owing to selection or drift. Embryonic Apalone SCDC is tissue- and age-dependent, regulated gene-by-gene, complete in females via Z-upregulation in both sexes (Type IV) but partial and environmentally plastic via Z-downregulation in males (accentuated at colder temperature), present in female hatchlings and a weakly suggestive in adult liver (Type I). Results indicate that embryonic SCDC evolved with/after sex chromosomes in Apalone 's family Tryonichidae, while co-opting Z-gene upregulation present in the TSD ancestor. Notably, Apalone 's SCDC resembles pygmy snake's, and differs from the full-SCDC of Anolis lizards who share homologous sex chromosomes (XY), advancing our understanding of how XX/XY and ZZ/ZW systems compensate gene-dose imbalance. 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 II)’.

Normal and abnormal sexual differentiation

2010 ◽  
pp. 1963-1975 ◽  
Author(s):  
I.A. Hughes
Keyword(s):  
Gene Expression ◽  
Sex Chromosomes ◽  
Sexual Differentiation ◽  
Dependent Manner ◽  
Hormone Production ◽  
Concentration Dependent Manner ◽  
Fetal Sex ◽  
Entire Process ◽  
Sex Development ◽  
Male Phenotype

Human sex development follows an orderly sequence of embryological events coordinated by a cascade of gene expression and hormone production in a time- and concentration-dependent manner. Underpinning the entire process of fetal sex development is the simple mantra: sex chromosomes (XX or XY) dictate the gonadotype (ovary or testis), which then dictates the somatotype (female or male phenotype)....

Do male and female heterogamety really differ in expression regulation? Lack of global dosage balance in pygopodid geckos

2020 ◽  
Author(s):  
Michail Rovatsos ◽  
Tony Gamble ◽  
Stuart V. Nielsen ◽  
Arthur Georges ◽  
Tariq Ezaz ◽  
...  
Keyword(s):  
Sex Determination ◽  
Sex Chromosomes ◽  
Gene Dosage ◽  
Regulatory Mechanisms ◽  
Gene Copy ◽  
Male And Female ◽  
Gene Dose ◽  
Female Heterogamety ◽  
Dosage Balance ◽  
Male Heterogamety

AbstractDifferentiation of sex chromosomes is thought to have evolved with cessation of recombination and subsequent loss of genes from the degenerated partner (Y and W) of sex chromosomes, which in turn leads to imbalance of gene dosage between sexes. Based on work with traditional model species, theory suggests that unequal gene copy numbers lead to the evolution of mechanisms to counter this imbalance. Dosage compensation, or at least achieving dosage balance in expression of sex-linked genes between sexes, has largely been documented in lineages with male heterogamety (XX/XY sex determination), while ZZ/ZW systems are assumed to be usually associated with the lack of chromosome-wide gene dose regulatory mechanisms. Here we document that although the pygopodid geckos evolved male heterogamety with a degenerated Y chromosome 32-72 million years ago, one species in particular, Burton’s legless lizard (Lialis burtonis), does not possess dosage balance in the expression of genes in its X-specific region. We summarize studies on gene dose regulatory mechanisms in animals and conclude that there is in them no significant dichotomy between male and female heterogamety. We speculate that gene dose regulatory mechanisms are likely to be related to the general mechanisms of sex determination instead of type of heterogamety.

scholarly journals The African Bullfrog (Pyxicephalus adspersus) genome unites the two ancestral ingredients for making vertebrate sex chromosomes

2018 ◽  
Author(s):  
Robert D. Denton ◽  
Randal S. Kudra ◽  
Jacob W. Malcom ◽  
Louis Du Preez ◽  
John H. Malone
Keyword(s):  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Genomic Sequence ◽  
Gene Dose ◽  
Ancestral Chromosome ◽  
Heteromorphic Sex Chromosomes ◽  
History Of ◽  
Determination System ◽  
Repeated Use ◽  
Sex Determination System

ABSTRACTHeteromorphic sex chromosomes have evolved repeatedly among vertebrate lineages despite largely deleterious reductions in gene dose. Understanding how this gene dose problem is overcome is hampered by the lack of genomic information at the base of tetrapods and comparisons across the evolutionary history of vertebrates. To address this problem, we produced a chromosome-level genome assembly for the African Bullfrog (Pyxicephalus adspersus)—an amphibian with heteromorphic ZW sex chromosomes—and discovered that the Bullfrog Z is surprisingly homologous to substantial portions of the human X. Using this new reference genome, we identified ancestral synteny among the sex chromosomes of major vertebrate lineages, showing that non-mammalian sex chromosomes are strongly associated with a single vertebrate ancestral chromosome, while mammals are associated with another that displays increased haploinsufficiency. The sex chromosomes of the African Bullfrog however, share genomic blocks with both humans and non-mammalian vertebrates, connecting the two ancestral chromosome sequences that repeatedly characterize vertebrate sex chromosomes. Our results highlight the consistency of sex-linked sequences despite sex determination system lability and reveal the repeated use of two major genomic sequence blocks during vertebrate sex chromosome evolution.

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