scholarly journals INDEPENDENT STRATUM FORMATION ON THE AVIAN SEX CHROMOSOMES REVEALS INTER-CHROMOSOMAL GENE CONVERSION AND PREDOMINANCE OF PURIFYING SELECTION ON THE W CHROMOSOME

Evolution ◽  
2014 ◽  
Vol 68 (11) ◽  
pp. 3281-3295 ◽  
Author(s):  
Alison E. Wright ◽  
Peter W. Harrison ◽  
Stephen H. Montgomery ◽  
Marie A. Pointer ◽  
Judith E. Mank
Keyword(s):  
Gene Conversion ◽  
Sex Chromosomes ◽  
Purifying Selection ◽  
Chromosomal Gene ◽  
W Chromosome

scholarly journals Consequences of recombination for the evolution of the mating type locus in Chlamydomonas reinhardtii

2019 ◽  
Author(s):  
Ahmed R. Hasan ◽  
Jaspreet K. Duggal ◽  
Rob W. Ness
Keyword(s):  
Chlamydomonas Reinhardtii ◽  
Gene Conversion ◽  
Mating Type ◽  
Sex Chromosomes ◽  
Purifying Selection ◽  
Recombination Suppression ◽  
Type Locus ◽  
Mating Type Locus ◽  
Sexual Characteristics ◽  
Population Genetic Variation

SummaryRationaleRecombination suppression in sex chromosomes and mating type loci can lead to degeneration due to reduced selection efficacy and Muller’s ratchet effects. However, genetic exchange in the form of non-crossover gene conversions may still take place within crossover-suppressed regions. Recent work has found evidence that gene conversion may explain the low levels of allelic differentiation in the dimorphic mating type locus (MT) of the isogamous alga Chlamydomonas reinhardtii. However, no one has tested whether gene conversion is sufficient to avoid the degeneration of functional sequence within MT.MethodsHere, we calculate levels of linkage disequilibrium (LD) across MT as a proxy for recombination rate and investigate its relationship to patterns of population genetic variation and the efficacy of selection in the region.ResultsWe find that levels of LD predict selection efficacy across MT, and that purifying selection is stronger in shared genes than MT-limited genes to the point of being equivalent to that of autosomal genes.ConclusionsWe argue that isogamous systems without secondary sexual characteristics exhibit reduced selective pressure to differentiate sex chromosomes, and that recombination via gene conversion plays an important role in both reducing differentiation and preventing degeneration of crossover suppressed mating type loci.

Developmental Systems Drift and the Drivers of Sex Chromosome Evolution

2019 ◽  
Vol 37 (3) ◽  
pp. 799-810 ◽  
Author(s):  
Caroline M S Cauret ◽  
Marie-Theres Gansauge ◽  
Andrew S Tupper ◽  
Benjamin L S Furman ◽  
Martin Knytl ◽  
...  
Keyword(s):  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Purifying Selection ◽  
W Chromosome ◽  
Developmental Systems ◽  
Recombination Suppression ◽  
Evolutionary Origins ◽  
Evolutionary Context ◽  
Genomic Locations ◽  
Developmental Systems Drift

Abstract Phenotypic invariance—the outcome of purifying selection—is a hallmark of biological importance. However, invariant phenotypes might be controlled by diverged genetic systems in different species. Here, we explore how an important and invariant phenotype—the development of sexually differentiated individuals—is controlled in over two dozen species in the frog family Pipidae. We uncovered evidence in different species for 1) an ancestral W chromosome that is not found in many females and is found in some males, 2) independent losses and 3) autosomal segregation of this W chromosome, 4) changes in male versus female heterogamy, and 5) substantial variation among species in recombination suppression on sex chromosomes. We further provide evidence of, and evolutionary context for, the origins of at least seven distinct systems for regulating sex determination among three closely related genera. These systems are distinct in their genomic locations, evolutionary origins, and/or male versus female heterogamy. Our findings demonstrate that the developmental control of sexual differentiation changed via loss, sidelining, and empowerment of a mechanistically influential gene, and offer insights into novel factors that impinge on the diverse evolutionary fates of sex chromosomes.

scholarly journals Dynamic Patterns of Sex Chromosome Evolution in Neognath Birds: Many Independent Barriers to Recombination at the ATP5F1A Locus

2021 ◽  
Author(s):  
Rebecca T. Kimball ◽  
Edward L. Braun
Keyword(s):  
Sex Chromosomes ◽  
Substitution Rate ◽  
Chromosome Evolution ◽  
Common Ancestor ◽  
Sex Chromosome ◽  
Purifying Selection ◽  
W Chromosome ◽  
Sex Chromosome Evolution ◽  
Dynamic Nature ◽  
Genome Assemblies

Avian sex chromosomes evolved after the divergence birds and crocodilians from their common ancestor, so they are much younger than the better-studied chromosomes of mammals. It has long been recognized that there may have been several stages to the evolution of avian sex chromosomes. For example, the CHD1 undergoes recombination in paleognaths but not neognaths. Genome assemblies have suggested there may be variation in the timing of barriers to recombination among Neognathae, but there remains little understanding of the extent of this variability. Here, we look at partial sequences of ATP5F1A, which is on the avian Z and W chromosomes. It is known that recombination of this gene has independently ceased in Galliformes, Anseriformes, and at least five neoavian orders, but whether there are other independent cessations of recombination among Neoaves is not understood. We used a combination of data extracted from published chromosomal-level genomes with data collected using PCR and cloning to identify Z and W copies in 22 orders. Our results suggest there may be at least 19 independent cessations of recombination within Neognathae, and 3 clades that may still be undergoing recombination (or have only recently ceased recombination). Analyses of ATP5F1A protein sequences revealed an increased amino acid substitution rate for W chromosome gametologs, suggesting relaxed purifying selection on the W chromosome. Supporting this hypothesis, we found that the increased substitution rate was particularly pronounced for buried residues, which are expected to be more strongly constrained by purifying selection. This highlights the dynamic nature of avian sex chromosomes, and that this level of variation among clades means they should be a good system to understand sex chromosome evolution.

scholarly journals Gene conversion and purifying selection of a placenta-specific ERV-V envelope gene during simian evolution

2008 ◽  
Vol 8 (1) ◽  
pp. 266 ◽  
Author(s):  
Anders L Kjeldbjerg ◽  
Palle Villesen ◽  
Lars Aagaard ◽  
Finn Skou Pedersen
Keyword(s):  
Gene Conversion ◽  
Purifying Selection ◽  
Envelope Gene ◽  
Selection Of

scholarly journals Genetic sex determination and sex-specific lifespan in tetrapods – evidence of a toxic Y effect

2020 ◽  
Author(s):  
Zahida Sultanova ◽  
Philip A. Downing ◽  
Pau Carazo
Keyword(s):  
Sex Chromosomes ◽  
Alternative Hypothesis ◽  
Z Chromosome ◽  
W Chromosome ◽  
Deleterious Mutations ◽  
Recessive Mutations ◽  
Y Chromosomes ◽  
Heterogametic Sex ◽  
Taxonomic Patterns

ABSTRACTSex-specific lifespans are ubiquitous across the tree of life and exhibit broad taxonomic patterns that remain a puzzle, such as males living longer than females in birds and vice versa in mammals. The prevailing “unguarded-X” hypothesis (UXh) explains this by differential expression of recessive mutations in the X/Z chromosome of the heterogametic sex (e.g., females in birds and males in mammals), but has only received indirect support to date. An alternative hypothesis is that the accumulation of deleterious mutations and repetitive elements on the Y/W chromosome might lower the survival of the heterogametic sex (“toxic Y” hypothesis). Here, we report lower survival of the heterogametic relative to the homogametic sex across 138 species of birds, mammals, reptiles and amphibians, as expected if sex chromosomes shape sex-specific lifespans. We then analysed bird and mammal karyotypes and found that the relative sizes of the X and Z chromosomes are not associated with sex-specific lifespans, contrary to UXh predictions. In contrast, we found that Y size correlates negatively with male survival in mammals, where toxic Y effects are expected to be particularly strong. This suggests that small Y chromosomes benefit male lifespans. Our results confirm the role of sex chromosomes in explaining sex differences in lifespan, but indicate that, at least in mammals, this is better explained by “toxic Y” rather than UXh effects.

Codling moth cytogenetics: karyotype, chromosomal location of rDNA, and molecular differentiation of sex chromosomes

Genome ◽  
2005 ◽  
Vol 48 (6) ◽  
pp. 1083-1092 ◽  
Author(s):  
Iva Fuková ◽  
Petr Nguyen ◽  
František Marec
Keyword(s):  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Codling Moth ◽  
Dna Probe ◽  
Rrna Genes ◽  
Comparative Genomic ◽  
W Chromosome ◽  
Genomic Hybridization ◽  
Molecular Differentiation ◽  
Sex Chromatin

We performed a detailed karyotype analysis in the codling moth, Cydia pomonella (L.) (Lepidoptera: Tortricidae), the key pest of pome fruit in the temperate regions of the world. The codling moth karyotype consisted of 2n = 56 chromosomes of a holokinetic type. The chromosomes were classified into 5 groups according to their sizes: extra large (3 pairs), large (3 pairs), medium (15 pairs), small (5 pairs), and dot-like (2 pairs). In pachytene nuclei of both sexes, a curious NOR (nucleolar organizer region) bivalent was observed. It carried 2 nucleoli, each associated with one end of the bivalent. FISH with an 18S ribosomal DNA probe confirmed the presence of 2 clusters of rRNA genes at the opposite ends of the bivalent. In accordance with this finding, 2 homologous NOR chromosomes were identified in mitotic metaphase, each showing hybridization signals at both ends. In highly polyploid somatic nuclei, females showed a large heterochromatin body, the so-called sex chromatin or W chromatin. The heterochromatin body was absent in male nuclei, indicating a WZ/ZZ (female/male) sex chromosome system. In keeping with the sex chromatin status, pachytene oocytes showed a sex chromosome bivalent (WZ) that was easily discernible by its heterochromatic W thread. To study molecular differentiation of the sex chromosomes, we employed genomic in situ hybridization (GISH) and comparative genomic hybridization (CGH). GISH detected the W chromosome by strong binding of the Cy3-labelled, female-derived DNA probe. With CGH, both the Cy3-labelled female-derived probe and Fluor-X labelled male-derived probe evenly bound to the W chromosome. This suggested that the W chromosome is predominantly composed of repetitive DNA sequences occurring scattered in other chromosomes but accumulated in the W chromosome. The demonstrated ways of W chromosome identification will facilitate the development of genetic sexing strains desirable for pest control using the sterile insect technique.Key words: CGH, codling moth, FISH, GISH, genomic hybridization, heterochromatin, holokinetic chromosomes, karyotype, NOR, rDNA, SIT, sex chromosomes.

scholarly journals Extrachromosomal and chromosomal gene conversion in mammalian cells.

1986 ◽  
Vol 6 (5) ◽  
pp. 1608-1614 ◽  
Author(s):  
J Rubnitz ◽  
S Subramani
Keyword(s):  
Gene Conversion ◽  
Mammalian Cells ◽  
Insertion Mutation ◽  
Chromosomal Gene ◽  
Sequence Organization ◽  
Reciprocal Recombination ◽  
Homologous Fragment ◽  
Double Recombination ◽  
Neomycin Resistance ◽  
Chromosomal Recombination

We constructed substrates to study gene conversion in mammalian cells specifically without the complication of reciprocal recombination events. These substrates contain both an insertion mutation of the neomycin resistance gene (neoX) and an internal, homologous fragment of the neo gene (neo-526), such that gene conversion from neo-526 to neoX restores a functional neo gene. Although two reciprocal recombination events can also produce an intact neo gene, these double recombination events occur much less frequently that gene conversion in mammalian cells, We used our substrates to characterize extrachromosomal gene conversion in recombination-deficient bacteria and in monkey COS cells. Chromosomal recombination was also studied after stable integration of these substrates into the genome of mouse 3T6 cells. All extrachromosomal and chromosomal recombination events analyzed in mammalian cells resulted from gene conversion. Chromosomal gene conversion events occurred at frequencies of about 10(-6) per cell generation and restored a functional neo gene without overall effects on sequence organization.

Evolution of Bird Sex Chromosomes Narrated by Repetitive Sequences: Unusual W Chromosome Enlargement in Gallinula melanops (Aves: Gruiformes: Rallidae)

2019 ◽  
Vol 158 (3) ◽  
pp. 152-159 ◽  
Author(s):  
Ricardo J. Gunski ◽  
Rafael Kretschmer ◽  
Marcelo Santos de Souza ◽  
Ivanete de Oliveira Furo ◽  
Suziane A. Barcellos ◽  
...  
Keyword(s):  
Sex Chromosomes ◽  
18S Rdna ◽  
Organizer Region ◽  
Repetitive Sequences ◽  
Nucleolar Organizer Region ◽  
Molecular Cytogenetics ◽  
5S Rdna ◽  
Nucleolar Organizer ◽  
W Chromosome ◽  
Rdna Sites

Among birds, species with the ZZ/ZW sex determination system generally show significant differences in morphology and size between the Z and W chromosomes (with the W usually being smaller than the Z). In the present study, we report for the first time the karyotype of the spot-flanked gallinule (Gallinula melanops) by means of classical and molecular cytogenetics. The spot-flanked gallinule has 2n = 80 (11 pairs of macrochromosomes and 29 pairs of microchromosomes) with an unusual W chromosome that is larger than the Z. Besides being totally heterochromatic, it has a secondary constriction in its long arm corresponding to the nucleolar organizer region, as confirmed by both silver staining and mapping of 18S rDNA probes. This is an unprecedented fact among birds. Additionally, 18S rDNA sites were also observed in 6 microchromosomes, while 5S rDNA was found in just 1 microchromosomal pair. Seven out of the 11 used microsatellite sequences were found to be accumulated in microchromosomes, and 6 microsatellite sequences were found in the W chromosome. In addition to the involvement of heterochromatin and repetitive DNAs in the differentiation of the large W chromosome, the results also show an alternative scenario that highlights the plasticity that shapes the evolutionary history of bird sex chromosomes.

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