scholarly journals Chromosomal Analysis in Crotophaga ani (Aves, Cuculiformes) Reveals Extensive Genomic Reorganization and an Unusual Z-Autosome Robertsonian Translocation

Cells ◽  
2020 ◽  
Vol 10 (1) ◽  
pp. 4
Author(s):  
Rafael Kretschmer ◽  
Ricardo José Gunski ◽  
Analía del Valle Garnero ◽  
Thales Renato Ochotorena de Freitas ◽  
Gustavo Akira Toma ◽  
...  
Keyword(s):  
Robertsonian Translocation ◽  
Chromosome Evolution ◽  
Sex Chromosome ◽  
Rare Event ◽  
Chromosome Morphology ◽  
Z Chromosome ◽  
Molecular Cytogenetic ◽  
Intrachromosomal Rearrangements ◽  
Genomic Reorganization

Although cytogenetics studies in cuckoos (Aves, Cuculiformes) have demonstrated an interesting karyotype variation, such as variations in the chromosome morphology and diploid number, their chromosome organization and evolution, and relation with other birds are poorly understood. Hence, we combined conventional and molecular cytogenetic approaches to investigate chromosome homologies between chicken and the smooth-billed ani (Crotophaga ani). Our results demonstrate extensive chromosome reorganization in C. ani, with interchromosomal rearrangements involving macro and microchromosomes. Intrachromosomal rearrangements were observed in some macrochromosomes, including the Z chromosome. The most evolutionary notable finding was a Robertsonian translocation between the microchromosome 17 and the Z chromosome, a rare event in birds. Additionally, the simple short repeats (SSRs) tested here were preferentially accumulated in the microchromosomes and in the Z and W chromosomes, showing no relationship with the constitutive heterochromatin regions, except in the W chromosome. Taken together, our results suggest that the avian sex chromosome is more complex than previously postulated and revealed the role of microchromosomes in the avian sex chromosome evolution, especially cuckoos.

scholarly journals Evolutionary Dynamics of Sex Chromosomes of Paleognathous Birds

2019 ◽  
Vol 11 (8) ◽  
pp. 2376-2390 ◽  
Author(s):  
Luohao Xu ◽  
Simon Yung Wa Sin ◽  
Phil Grayson ◽  
Scott V Edwards ◽  
Timothy B Sackton
Keyword(s):  
Sex Chromosomes ◽  
Evolutionary Dynamics ◽  
Chromosome Evolution ◽  
Sex Chromosome ◽  
Z Chromosome ◽  
Recombination Suppression ◽  
Evolutionary Forces ◽  
Genomic Level ◽  
Standard Models ◽  
Pseudoautosomal Regions

Abstract Standard models of sex chromosome evolution propose that recombination suppression leads to the degeneration of the heterogametic chromosome, as is seen for the Y chromosome in mammals and the W chromosome in most birds. Unlike other birds, paleognaths (ratites and tinamous) possess large nondegenerate regions on their sex chromosomes (PARs or pseudoautosomal regions). It remains unclear why these large PARs are retained over >100 Myr, and how this retention impacts the evolution of sex chromosomes within this system. To address this puzzle, we analyzed Z chromosome evolution and gene expression across 12 paleognaths, several of whose genomes have recently been sequenced. We confirm at the genomic level that most paleognaths retain large PARs. As in other birds, we find that all paleognaths have incomplete dosage compensation on the regions of the Z chromosome homologous to degenerated portions of the W (differentiated regions), but we find no evidence for enrichments of male-biased genes in PARs. We find limited evidence for increased evolutionary rates (faster-Z) either across the chromosome or in differentiated regions for most paleognaths with large PARs, but do recover signals of faster-Z evolution in tinamou species with mostly degenerated W chromosomes, similar to the pattern seen in neognaths. Unexpectedly, in some species, PAR-linked genes evolve faster on average than genes on autosomes, suggested by diverse genomic features to be due to reduced efficacy of selection in paleognath PARs. Our analysis shows that paleognath Z chromosomes are atypical at the genomic level, but the evolutionary forces maintaining largely homomorphic sex chromosomes in these species remain elusive.

scholarly journals Correction: The key role of repeated DNAs in sex chromosome evolution in two fish species with ZW sex chromosome system

2012 ◽  
Vol 5 (1) ◽  
pp. 42 ◽  
Author(s):  
Marcelo de Bello Cioffi ◽  
Eduard Kejnovský ◽  
Vinicius Marquioni ◽  
Juliana Poltronieri ◽  
Wagner F Molina ◽  
...  
Keyword(s):  
Fish Species ◽  
Chromosome Evolution ◽  
Sex Chromosome ◽  
Sex Chromosome Evolution ◽  
Sex Chromosome System ◽  
Repeated Dnas

scholarly journals The key role of repeated DNAs in sex chromosome evolution in two fish species with ZW sex chromosome system

2012 ◽  
Vol 5 (1) ◽  
pp. 28 ◽  
Author(s):  
Marcelo de Bello Cioffi ◽  
Eduard Kejnovský ◽  
Vinicius Marquioni ◽  
Juliana Poltronieri ◽  
Wagner Molina ◽  
...  
Keyword(s):  
Fish Species ◽  
Chromosome Evolution ◽  
Sex Chromosome ◽  
Sex Chromosome Evolution ◽  
Sex Chromosome System ◽  
Repeated Dnas

scholarly journals Sex chromosome evolution: historical insights and future perspectives

2017 ◽  
Vol 284 (1854) ◽  
pp. 20162806 ◽  
Author(s):  
Jessica K. Abbott ◽  
Anna K. Nordén ◽  
Bengt Hansson
Keyword(s):  
Sex Determination ◽  
Sex Chromosomes ◽  
Chromosome Evolution ◽  
Sex Chromosome ◽  
Empirical Studies ◽  
Analytical Models ◽  
Specific Gene ◽  
Sex Chromosome Evolution ◽  
Current Thinking

Many separate-sexed organisms have sex chromosomes controlling sex determination. Sex chromosomes often have reduced recombination, specialized (frequently sex-specific) gene content, dosage compensation and heteromorphic size. Research on sex determination and sex chromosome evolution has increased over the past decade and is today a very active field. However, some areas within the field have not received as much attention as others. We therefore believe that a historic overview of key findings and empirical discoveries will put current thinking into context and help us better understand where to go next. Here, we present a timeline of important conceptual and analytical models, as well as empirical studies that have advanced the field and changed our understanding of the evolution of sex chromosomes. Finally, we highlight gaps in our knowledge so far and propose some specific areas within the field that we recommend a greater focus on in the future, including the role of ecology in sex chromosome evolution and new multilocus models of sex chromosome divergence.

scholarly journals Evolutionary dynamics of sex chromosomes of paleognathous birds

2018 ◽  
Author(s):  
Luohao Xu ◽  
Simon Yung Wa Sin ◽  
Phil Grayson ◽  
Scott V. Edwards ◽  
Timothy B. Sackton
Keyword(s):  
Sex Chromosomes ◽  
Evolutionary Dynamics ◽  
Chromosome Evolution ◽  
Sex Chromosome ◽  
Z Chromosome ◽  
Recombination Suppression ◽  
Evolutionary Forces ◽  
Genomic Level ◽  
Standard Models ◽  
Pseudoautosomal Regions

AbstractStandard models of sex chromosome evolution propose that recombination suppression leads to the degeneration of the heterogametic chromosome, as is seen for the Y chromosome in mammals and the W chromosome in most birds. Unlike other birds, paleognaths (ratites and tinamous) possess large non-degenerate regions on their sex chromosomes (PARs or pseudoautosomal regions). It remains unclear why these large PARs are retained over more than 100 MY, and how this retention impacts the evolution of sex chromosomes within this system. To address this puzzle, we analysed Z chromosome evolution and gene expression across 12 paleognaths, several of whose genomes have recently been sequenced. We confirm at the genomic level that most paleognaths retain large PARs. As in other birds, we find that all paleognaths have incomplete dosage compensation on the regions of the Z chromosome homologous to degenerated portions of the W (differentiated regions or DRs), but we find no evidence for enrichments of male-biased genes in PARs. We find limited evidence for increased evolutionary rates (faster-Z) either across the chromosome or in DRs for most paleognaths with large PARs, but do recover signals of faster-Z evolution in tinamou species with mostly degenerated W chromosomes, similar to the pattern seen in neognaths. Unexpectedly, in some species PAR-linked genes evolve faster on average than genes on autosomes, suggested by diverse genomic features to be due to reduced efficacy of selection in paleognath PARs. Our analysis shows that paleognath Z chromosomes are atypical at the genomic level, but the evolutionary forces maintaining largely homomorphic sex chromosomes in these species remain elusive.

scholarly journals Sex chromosome evolution among amniotes: is the origin of sex chromosomes non-random?

2021 ◽  
Vol 376 (1833) ◽  
pp. 20200108 ◽  
Author(s):  
Lukáš Kratochvíl ◽  
Tony Gamble ◽  
Michail Rovatsos
Keyword(s):  
Sex Chromosomes ◽  
Chromosome Evolution ◽  
Sex Chromosome ◽  
Current Knowledge ◽  
Current Data ◽  
Divergent Evolution ◽  
Random Pattern ◽  
Sex Chromosome Evolution ◽  
Great Opportunity

Sex chromosomes are a great example of a convergent evolution at the genomic level, having evolved dozens of times just within amniotes. An intriguing question is whether this repeated evolution was random, or whether some ancestral syntenic blocks have significantly higher chance to be co-opted for the role of sex chromosomes owing to their gene content related to gonad development. Here, we summarize current knowledge on the evolutionary history of sex determination and sex chromosomes in amniotes and evaluate the hypothesis of non-random emergence of sex chromosomes. The current data on the origin of sex chromosomes in amniotes suggest that their evolution is indeed non-random. However, this non-random pattern is not very strong, and many syntenic blocks representing putatively independently evolved sex chromosomes are unique. Still, repeatedly co-opted chromosomes are an excellent model system, as independent co-option of the same genomic region for the role of sex chromosome offers a great opportunity for testing evolutionary scenarios on the sex chromosome evolution under the explicit control for the genomic background and gene identity. Future studies should use these systems more to explore the convergent/divergent evolution of sex chromosomes. 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 Interaction between sex-determining genes from two species: clues from Xenopus hybrids

2021 ◽  
Vol 376 (1833) ◽  
pp. 20200104 ◽  
Author(s):  
Álvaro S. Roco ◽  
Adrián Ruiz-García ◽  
Mónica Bullejos
Keyword(s):  
Sex Chromosomes ◽  
Ovarian Development ◽  
Chromosome Evolution ◽  
Sex Chromosome ◽  
Parental Species ◽  
Z Chromosome ◽  
Gonadal Differentiation ◽  
Theme Issue ◽  
Testicular Differentiation

Hybrids provide an interesting model to study the evolution of sex-determining genes and sex chromosome systems as they offer the opportunity to see how independently evolving sex-determining pathways interact in vivo . In this context, the genus Xenopus represents a stimulating model, since species with non-homologous sex chromosomes and different sex-determining genes have been identified. In addition, the possibility of interspecies breeding is favoured in this group, which arose by alloploidization events, with species ploidy ranging from 2 n = 2 x = 20 in X. tropicalis (the only diploid representative of the genus) to 2 n = 12 x = 108 in X. ruwenzoriensis . To study how two sex-determining genes interact in vivo , X. laevis × X. tropicali s hybrids were produced. Gonadal differentiation in these hybrids revealed that the dm-w gene is dominant over X. tropicalis male-determining sex chromosomes (Y or Z), even though the Y chromosome is dominant in X. tropicalis (Y > W>Z). In the absence of the dm-w gene (the Z chromosome from X. laevis is present), the W chromosome from X. tropicalis is able to trigger ovarian development. Testicular differentiation will take place in the absence of W chromosomes from any of the parental species. The dominance/recessivity relationships between these sex-determining loci in the context of either parental genome remains unknown. 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)’.

THE ROLE OF GENETICS AND OTHER PRENATAL FACTORS IN DISORDERS OF CHILDHOOD

PEDIATRICS ◽  
1956 ◽  
Vol 18 (2) ◽  
pp. 314-317
Author(s):  
Josef Warkany ◽  
F. C. Fraser
Keyword(s):  
Sex Chromosomes ◽  
Gene Pair ◽  
Sex Chromosome ◽  
Rare Event ◽  
Round Table ◽  
X Chromosomes ◽  
Prenatal Factors ◽  
Biochemical Factor ◽  
Hereditary Factors

THE PHYSICIAN interested in the etiology of a disease should always try to ascertain as many etiologic factors as possible, because the causal pathogenic web can often be disturbed from different angles. Although hereditary factors will be the main topic of this round table, we shall stress that they never act in a vacuum. The genes direct the development of the embryo and fetus, but the development depends also upon an environment limited by the mother's body and surroundings. Certain terms are fundamental to an understanding of heredity: Chromosomes. The nuclear carriers of the hereditary factors, the genes. Each nucleated somatic cell of a person's body has 24 pairs of chromosomes, each pair carrying hundreds of genes. One member of each pair is derived from the person's mother and one from the father. In the female there are 23 pairs of autosomes (non-sex chromosomes) and 1 pair of like sex chromosomes (X-chromosomes). In the male there are 23 pairs of autosomes and 1 pair of unlike sex chromosomes (one X and one Y-chromosome). Gene. The particulate biochemical factor responsible for a particular hereditary characteristic. As the genes are carried on the chromosomes, they also occur in pairs. Each pair occupies a particular locus on the chromosomes. Genes located at the same locus are termed alleles. A child gets 1 member of each gene pair from each parent. Sometimes by the rare event of mutation, a gene becomes changed into one that may function abnormally—a "pathologic" gene. Homozygote. An individual in whom the gene pair in question consists of 2 like genes. Heterozygote. An individual in whom the gene pair in question consists of unlike genes. Depending upon the type (dominant or recessive) and location (autosome or sex chromosome) of the gene, several types of inheritance patterns are possible.

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