Isolation and development of a molecular sex marker for Bassiana duperreyi, a lizard with XX/XY sex chromosomes and temperature-induced sex reversal

2009 ◽  
Vol 281 (6) ◽  
pp. 665-672 ◽  
Author(s):  
Alexander E. Quinn ◽  
Rajkumar S. Radder ◽  
Stephen D. Sarre ◽  
Arthur Georges ◽  
Tariq Ezaz ◽  
...  
Keyword(s):  
Sex Chromosomes ◽  
Sex Reversal ◽  
Sex Marker ◽  
Bassiana Duperreyi

scholarly journals Molecular screening of XY SRY-negative sex reversal cases in horses revealed anomalies in amelogenin testing

2020 ◽  
Vol 32 (6) ◽  
pp. 938-941 ◽  
Author(s):  
Maria M. Martinez ◽  
Mónica Costa ◽  
Cecilia Ratti
Keyword(s):  
Developmental Disorder ◽  
Marker Gene ◽  
Sex Reversal ◽  
Initial Result ◽  
Genetic Constitution ◽  
Female Sex ◽  
Sex Marker ◽  
Xy Sex Reversal ◽  
Dna Genotyping ◽  
Male To Female

Male-to-female sex reversal in horses is a developmental disorder in which phenotypic females have a male genetic constitution. Male-to-female sex reversal is the second most common genetic sex abnormality, after X chromosome monosomy. All male-to-female sex reversal cases studied to date have been found to be infertile. Therefore, a screening test is particularly useful in laboratories doing DNA genotyping in horses. Our laboratory has tested > 209,000 horses for parentage using a panel of microsatellite markers and the sex marker gene amelogenin ( AMEL). Suspect XY sex reversal cases are reported females with a male profile by AMEL testing. After routine genotyping, 49 cases were detected and further tested using the sex-determining region Y ( SRY) gene, confirming the XY SRY-negative genotype of suspect sex reversal cases. When some inconsistencies arose in the initial result, a molecular panel of X- and Y-linked markers was analyzed for these samples. Of the 49 cases, 33 were confirmed as XY SRY-negative. The remaining 16 cases were identified as false-positives as a result of anomalies of AMEL testing in horses.

Unusual distribution of Zfy and Zfx sequences on the sex chromosomes of the wood lemming, a species exhibiting XY sex reversal

1992 ◽  
Vol 60 (1) ◽  
pp. 48-54 ◽  
Author(s):  
Y.-F.C. Lau ◽  
T.L. Yang-Feng ◽  
B. Elder ◽  
K. Fredga ◽  
U.H. Wiberg
Keyword(s):  
Sex Chromosomes ◽  
Sex Reversal ◽  
Unusual Distribution ◽  
Wood Lemming ◽  
Xy Sex Reversal

scholarly journals Genetic evidence for co-occurrence of chromosomal and thermal sex-determining systems in a lizard

2007 ◽  
Vol 4 (2) ◽  
pp. 176-178 ◽  
Author(s):  
Rajkumar S Radder ◽  
Alexander E Quinn ◽  
Arthur Georges ◽  
Stephen D Sarre ◽  
Richard Shine
Keyword(s):  
Sex Determination ◽  
Female Offspring ◽  
Temperature Dependent ◽  
Sex Marker ◽  
Heteromorphic Sex Chromosomes ◽  
Offspring Sex ◽  
Current Classification ◽  
Genotypic Sex Determination ◽  
Incubation Temperatures ◽  
Bassiana Duperreyi

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.

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

2006 ◽  
Vol 2 (3) ◽  
pp. 378-381 ◽  
Author(s):  
Steven Freedberg ◽  
Rachel M Bowden ◽  
Michael A Ewert ◽  
Dale R Sengelaub ◽  
Craig E Nelson
Keyword(s):  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Sex Reversal ◽  
Normal Female ◽  
Long Term Effects ◽  
Turtle Species ◽  
Ideal System ◽  
Heteromorphic Sex Chromosomes ◽  
Do So

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

scholarly journals Proto-sex locus in large yellow croaker provides insights into early evolution of the sex chromosome

2020 ◽  
Author(s):  
Zhiyong Wang ◽  
Shijun Xiao ◽  
Mingyi Cai ◽  
Zhaofang Han ◽  
Wanbo Li ◽  
...  
Keyword(s):  
Sex Determination ◽  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Draft Genome ◽  
Sex Reversal ◽  
Large Yellow Croaker ◽  
Larimichthys Crocea ◽  
Suppressed Recombination ◽  
Heterogametic Sex ◽  
Sex Locus

AbstractAutosomal origins of heterogametic sex chromosomes have been inferred frequently from suppressed recombination and gene degeneration manifested in incompletely differentiated sex chromosomes. However, the initial transition of an autosome region to a proto-sex locus has been not explored in depth. By assembling and analyzing a chromosome-level draft genome, we found a recent (evolved 0.26 million years ago), highly homologous, and dmrt1 containing sex-determination locus with slightly reduced recombination in large yellow croaker (Larimichthys crocea), a teleost species with genetic sex determination (GSD) and with undifferentiated sex chromosomes. We observed genomic homology and polymorphic segregation of the proto-sex locus between sexes. Expression of dmrt1 showed a stepwise increase in the development of testis, but not in the ovary. We infer that the inception of the proto-sex locus involves a few divergences in nucleotide sequences and slight suppression of recombination in an autosome region. In androgen-induced sex reversal of genetic females, in addition to dmrt1, genes in the conserved dmrt1 cluster, and the rest of the sex determination network were activated. We provided evidence that broad functional links were shared by genetic sex determination and environmental sex reversal.

scholarly journals Identification of Y chromosome markers in the eastern three-lined skink (Bassiana duperreyi) using in silico whole genome subtraction

BMC Genomics ◽  
2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Duminda Sampath Bandara Dissanayake ◽  
Clare Ellen Holleley ◽  
Laura Kate Hill ◽  
Denis O’Meally ◽  
Janine Eileen Deakin ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Sex Chromosomes ◽  
In Silico ◽  
Sex Chromosome ◽  
Genomic Sequence ◽  
Sequence Divergence ◽  
Single Copy ◽  
Whole Genome ◽  
Specific Sequence ◽  
Bassiana Duperreyi

Abstract Background Homologous sex chromosomes can differentiate over time because recombination is suppressed in the region of the sex determining locus, leading to the accumulation of repeats, progressive loss of genes that lack differential influence on the sexes and sequence divergence on the hemizygous homolog. Divergence in the non-recombining regions leads to the accumulation of Y or W specific sequence useful for developing sex-linked markers. Here we use in silico whole-genome subtraction to identify putative sex-linked sequences in the scincid lizard Bassiana duperreyi which has heteromorphic XY sex chromosomes. Results We generated 96.7 × 109 150 bp paired-end genomic sequence reads from a XY male and 81.4 × 109 paired-end reads from an XX female for in silico whole genome subtraction to yield Y enriched contigs. We identified 7 reliable markers which were validated as Y chromosome specific by polymerase chain reaction (PCR) against a panel of 20 males and 20 females. Conclusions The sex of B. duperreyi can be reversed by low temperatures (XX genotype reversed to a male phenotype). We have developed sex-specific markers to identify the underlying genotypic sex and its concordance or discordance with phenotypic sex in wild populations of B. duperreyi. Our pipeline can be applied to isolate Y or W chromosome-specific sequences of any organism and is not restricted to sequence residing within single-copy genes. This study greatly improves our knowledge of the Y chromosome in B. duperreyi and will enhance future studies of reptile sex determination and sex chromosome evolution.

scholarly journals Effects of natural nest temperatures on sex reversal and sex ratios in an Australian alpine skink

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Duminda S. B. Dissanayake ◽  
Clare E. Holleley ◽  
Arthur Georges
Keyword(s):  
Sex Ratio ◽  
Climatic Variability ◽  
Population Decline ◽  
Sex Reversal ◽  
Individual Fitness ◽  
Primary Sex Ratio ◽  
In The Wild ◽  
Genotypic Sex Determination ◽  
Environmental Temperatures ◽  
Bassiana Duperreyi

AbstractAltered climate regimes have the capacity to affect the physiology, development, ecology and behaviour of organisms dramatically, with consequential changes in individual fitness and so the ability of populations to persist under climatic change. More directly, extreme temperatures can directly skew the population sex ratio in some species, with substantial demographic consequences that influence the rate of population decline and recovery rates. In contrast, this is particularly true for species whose sex is determined entirely by temperature (TSD). The recent discovery of sex reversal in species with genotypic sex determination (GSD) due to extreme environmental temperatures in the wild broadens the range of species vulnerable to changing environmental temperatures through an influence on primary sex ratio. Here we document the levels of sex reversal in nests of the Australian alpine three-lined skink (Bassiana duperreyi), a species with sex chromosomes and sex reversal at temperatures below 20 °C and variation in rates of sex reversal with elevation. The frequency of sex reversal in nests of B. duperreyi ranged from 28.6% at the highest, coolest locations to zero at the lowest, warmest locations. Sex reversal in this alpine skink makes it a sensitive indicator of climate change, both in terms of changes in average temperatures and in terms of climatic variability.

scholarly journals Evolutionary transition to XY sex chromosomes associated with Y-linked duplication of a male hormone gene in a terrestrial isopod

2020 ◽  
Author(s):  
Aubrie Russell ◽  
Sevarin Borrelli ◽  
Rose Fontana ◽  
Joseph Laricchiuta ◽  
Jane Pascar ◽  
...  
Keyword(s):  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Sex Reversal ◽  
Evolutionary Mechanisms ◽  
Terrestrial Isopod ◽  
Study Population ◽  
Taxonomic Groups ◽  
Male Specific ◽  
Surgical Manipulations ◽  
Sex Determination Mechanisms

AbstractSex chromosomes are highly variable in some taxonomic groups, but the evolutionary mechanisms underlying this diversity are not well understood. In terrestrial isopod crustaceans, interactions with Wolbachia, a vertically transmitted endosymbiont causing male-to-female sex reversal, are thought to drive rapid evolutionary turnovers in sex chromosomes. Here, we use surgical manipulations and genetic crosses, plus genome sequencing, to examine sex chromosomes in the terrestrial isopod Trachelipus rathkei. Although an earlier cytogenetics study suggested a ZZ/ZW sex chromosome system in this species, we surprisingly find that in our study population, sex is determined by an XX/XY system. Consistent with a recent evolutionary origin for this XX/XY system, the putative male-specific region of the genome is small. The genome shows evidence of sequences horizontally acquired from past Wolbachia infections, as well as evidence of Y-linked duplications of the androgenic gland hormone gene, thought to be a possible target for sex reversal by Wolbachia. Overall, these results are consistent with the hypothesis that reproductive endosymbionts such as Wolbachia can promote quick turnover of sex determination mechanisms in their hosts.

scholarly journals Identification of Y chromosome markers in the eastern three-lined skink (Bassiana duperreyi) using in-silico whole genome subtraction.

2020 ◽  
Author(s):  
Duminda Sampath Bandara Dissanayake ◽  
Clare Ellen Holleley ◽  
Laura Kate Hill ◽  
Denis O’Meally ◽  
Janine Eileen Deakin ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Sex Chromosomes ◽  
In Silico ◽  
Sex Chromosome ◽  
Genomic Sequence ◽  
Sequence Divergence ◽  
Single Copy ◽  
Whole Genome ◽  
Specific Sequence ◽  
Bassiana Duperreyi

Abstract Background: Homologous sex chromosomes can differentiate over time because recombination is suppressed in the region of the sex determining locus, leading to the accumulation of repeats, progressive loss of genes that lack differential influence on the sexes and sequence divergence on the hemizygous homolog. Divergence in the non-recombining regions leads to the accumulation of Y or W specific sequence useful for developing sex-linked markers. Here we use in silico whole-genome subtraction to identify putative sex-linked sequences in the scincid lizard Bassiana duperreyi which has heteromorphic XY sex chromosomes. Results: We generated 96.7 x 10 9 150 bp paired-end genomic sequence reads from a XY male and 81.4 x 10 9 paired-end reads from an XX female for in silico whole genome subtraction to yield Y enriched contigs. We identified 7 reliable markers which were validated as Y chromosome specific by polymerase chain reaction (PCR) against a panel of 20 males and 20 females. Conclusions: The sex of B. duperreyi can be reversed by low temperatures (XX genotype reversed to a male phenotype). We have developed sex-specific markers to identify the underlying genotypic sex and its concordance or discordance with phenotypic sex in wild populations of B. duperreyi . Our pipeline can be applied to isolate Y or W chromosome-specific sequences of any organism and is not restricted to sequence residing within single-copy genes. This study greatly improves our knowledge of the Y chromosome in B. duperreyi and will enhance future studies of reptile sex determination and sex chromosome evolution.

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