scholarly journals A duplicated copy of id2b is an unusual sex-determining candidate gene on the Y chromosome of arapaima (Arapaima gigas)

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Mateus C. Adolfi ◽  
Kang Du ◽  
Susanne Kneitz ◽  
Cédric Cabau ◽  
Margot Zahm ◽  
...  

AbstractArapaima gigas is one of the largest freshwater fish species of high ecological and economic importance. Overfishing and habitat destruction are severe threats to the remaining wild populations. By incorporating a chromosomal Hi-C contact map, we improved the arapaima genome assembly to chromosome-level, revealing an unexpected high degree of chromosome rearrangements during evolution of the bonytongues (Osteoglossiformes). Combining this new assembly with pool-sequencing of male and female genomes, we identified id2bbY, a duplicated copy of the inhibitor of DNA binding 2b (id2b) gene on the Y chromosome as candidate male sex-determining gene. A PCR-test for id2bbY was developed, demonstrating that this gene is a reliable male-specific marker for genotyping. Expression analyses showed that this gene is expressed in juvenile male gonads. Its paralog, id2ba, exhibits a male-biased expression in immature gonads. Transcriptome analyses and protein structure predictions confirm id2bbY as a prime candidate for the master sex-determiner. Acting through the TGFβ signaling pathway, id2bbY from arapaima would provide the first evidence for a link of this family of transcriptional regulators to sex determination. Our study broadens our current understanding about the evolution of sex determination genetic networks and provide a tool for improving arapaima aquaculture for commercial and conservation purposes.

Development ◽  
1987 ◽  
Vol 101 (Supplement) ◽  
pp. 25-32
Author(s):  
Robert P. Erickson ◽  
Edward J. Durbin ◽  
Laura L. Tres

Mice provide material for studies of Y-chromosomal and autosomal sequences involved in sex determination. Eicher and coworkers have identified four subregions in the mouse Y chromosome, one of which corresponds to the Sxr fragment. This fragment demonstrates that only a small portion of the Y is necessary for male sex determination. The mouse Y chromosome also shows variants: the BALB/cWt Y chromosome, which causes nondisjunction of the Y in some germ cells leading to XO and XYY cells and resulting in many infertile true hermaphrodites; the YDom, a wild-type chromosome which can result in sex reversal on a C57BL/6J background; and Y-chromosomal variants detected with Y-derived genomic DNA clones among inbred strains. Two different autosomal loci affecting sex differentiation have been identified in the mouse by Eicher and coworkers. The first of these has not been mapped to a particular chromosome and has been designated Tda-1 (Testis-determining autosomal-1). This is the locus in C57BL/6J mice at which animals must be homozygous in order to develop as true hermaphrodites or sex-reversed animals in the presence of YDom. The other locus has been identified on proximal chromosome 17. This locus also caused hermaphrodites on the C57BL/6J background and it is most easily interpreted as a locus deleted in 7hp. It is located in a region on chromosome 17 containing other genes or DNA sequences that may be related to sex determination. These include both the Hye (histocompatibility Y expression) locus that affects the amount of male-specific antigen detected by serological and cell-mediated assays and a concentration of Bkm sequences. Despite the Y and chromosomal 17 localizations of Bkm sequences, there is no evidence that transcripts from these are involved in sex determination: RNA hybridizing to sense and anti-sense Bkm clones can be detected in day-14 fetal gonads of both sexes.


1956 ◽  
Vol 34 (2) ◽  
pp. 261-268 ◽  
Author(s):  
Áskell Löve ◽  
Nina Sarkar

The western North American dioecious species Rumex paucifolius is shown to be a tetraploid with 2n = 28 chromosomes. It is the third tetraploid known within the subgenus Acetosa, and the first polyploid dioecious taxon of that group, the others having either 2n = 14 ♂, 15 ♀ (R. Acetosa and relatives), or 2n = 8 ♂, 9 ♀ (R. hastatulus). The sex chromosomes of R. paucifolius are of the XX:XY type, the male sex being heterogametic. The X is a large chromosome, while the Y is the smallest chromosome of the complement. The mechanism of sex determination of R. paucifolius follows the Melandrium–Acetosella scheme with strongly epistatic male determinants in the Y–chromosome. Other dioecious Acetosae follow the Drosophila–Acetosa scheme of sex determination with a balance between the number of X and autosome complements, the Y being sexually inert. It is concluded from the observed cytogenetical and morphological differences that R. paucifolius should constitute a section of its own, Paucifoliae, which should be placed as far as possible from the section Acetosa, though within the same subgenus. The other American dioecious endemic, R. hastatulus, is placed in a subsection of the section Acetosa.


The primary development of a male rather than a female gonad in mammals is determined by the presence of a Y chromosome. The other property unique to the Y chromosome is the occurrence of a cell-surface antigen (designated H-Y) which distinguishes male from female. Thus it was determined that male grafts were rejected by otherwise histocompatible females of the same inbred strain and later that H-Y-specific cytolytic T cells were produced by these grafted mice. When it was determined that females grafted with male skin produced antibody defining a serologically detectable male antigen (which may or may not be the same as H-Y), further immunogenetic analysis of this antigenic system became possible in terms of humoral and cellular factors. By using this assay it was demonstrated that the antigen was phylogenetically conserved and that it was expressed in the male mouse embryo as early as the 8-cell stage of development. The notion that H-Y was a single molecular species responsible for triggering the indifferent gonad to differentiate into the testis became a widely accepted hypothesis. In this report the H-Y antigenic system is traced historically from its original description to the role played in testis development. Data are presented which suggest that although H-Y is a male-specific factor and may play a role in male sex determination, it is unlikely that it is the primary inducer of testis differentiation.


Fishes ◽  
2021 ◽  
Vol 6 (4) ◽  
pp. 43
Author(s):  
Thitipong Panthum ◽  
Nararat Laopichienpong ◽  
Ekaphan Kraichak ◽  
Worapong Singchat ◽  
Dung Ho My Nguyen ◽  
...  

The snakeskin gourami (Trichopodus pectoralis) has a high meat yield and is one of the top five aquaculture freshwater fishes in Thailand. The species is not externally sexually dimorphic, and its sex determination system is unknown. Understanding the sex determination system of this species will contribute to its full-scale commercialization. In this study, a cytogenetic analysis did not reveal any between-sex differences in chromosomal patterns. However, we used genotyping-by-sequencing to identify 4 male-linked loci and 1 female-linked locus, indicating that the snakeskin gourami tends to exhibit an XX/XY sex determination system. However, we did not find any male-specific loci after filtering the loci for a ratio of 100:0 ratio of males:females. This suggests that the putative Y chromosome is young and that the sex determination region is cryptic. This approach provides solid information that can help identify the sex determination mechanism and potential sex determination regions in the snakeskin gourami, allowing further investigation of genetic improvements in the species.


eLife ◽  
2021 ◽  
Vol 10 ◽  
Author(s):  
Jeremie Subrini ◽  
James Turner

The mammalian Y chromosome is critical for male sex determination and spermatogenesis. However, linking each Y gene to specific aspects of male reproduction has been challenging. As the Y chromosome is notoriously hard to sequence and target, functional studies have mostly relied on transgene-rescue approaches using mouse models with large multi-gene deletions. These experimental limitations have oriented the field toward the search for a minimum set of Y genes necessary for male reproduction. Here, considering Y-chromosome evolutionary history and decades of discoveries, we review the current state of research on its function in spermatogenesis and reassess the view that many Y genes are disposable for male reproduction.


2020 ◽  
Vol 117 (39) ◽  
pp. 24359-24368
Author(s):  
Nima Rafati ◽  
Junfeng Chen ◽  
Amaury Herpin ◽  
Mats E. Pettersson ◽  
Fan Han ◽  
...  

The mechanisms underlying sex determination are astonishingly plastic. Particularly the triggers for the molecular machinery, which recalls either the male or female developmental program, are highly variable and have evolved independently and repeatedly. Fish show a huge variety of sex determination systems, including both genetic and environmental triggers. The advent of sex chromosomes is assumed to stabilize genetic sex determination. However, because sex chromosomes are notoriously cluttered with repetitive DNA and pseudogenes, the study of their evolution is hampered. Here we reconstruct the birth of a Y chromosome present in the Atlantic herring. The region is tiny (230 kb) and contains only three intact genes. The candidate male-determining gene BMPR1BBY encodes a truncated form of a BMP1B receptor, which originated by gene duplication and translocation and underwent rapid protein evolution. BMPR1BBY phosphorylates SMADs in the absence of ligand and thus has the potential to induce testis formation. The Y region also contains two genes encoding subunits of the sperm-specific Ca2+ channel CatSper required for male fertility. The herring Y chromosome conforms with a characteristic feature of many sex chromosomes, namely, suppressed recombination between a sex-determining factor and genes that are beneficial for the given sex. However, the herring Y differs from other sex chromosomes in that suppression of recombination is restricted to an ∼500-kb region harboring the male-specific and sex-associated regions. As a consequence, any degeneration on the herring Y chromosome is restricted to those genes located in the small region affected by suppressed recombination.


2020 ◽  
Author(s):  
Cátia José Neves ◽  
Maor Matzrafi ◽  
Meik Thiele ◽  
Anne Lorant ◽  
Mohsen B Mesgaran ◽  
...  

Abstract Dioecy, the separation of reproductive organs on different individuals, has evolved repeatedly in different plant families. Several evolutionary paths to dioecy have been suggested, but the mechanisms behind sex determination is not well understood. The diploid dioecious Amaranthus palmeri represents a well suited model system to study sex determination in plants. Despite the agricultural importance of the species, the genetic control and evolutionary state of dioecy in A. palmeri is currently unknown. Early cytogenetic experiments did not identify heteromorphic chromosomes. Here, we used whole genome sequencing of male and female pools from two independent populations to elucidate the genetic control of dioecy in A. palmeri. Read alignment to a close monoecious relative and allele frequency comparisons between male and female pools did not reveal significant sex linked genes. Consequently, we employed an alignment free k-mer comparison which enabled us to identify a large number of male specific k-mers. We assembled male specific contigs comprising a total of almost 2 Mb sequence, proposing a XY sex determination system in the species. We were able to identify the potential Y chromosome in the A. palmeri draft genome sequence as 90 % of our male specific sequence aligned to a single scaffold. Based on our findings we suggest an intermediate evolutionary state of dioecy with a young Y chromosome in A. palmeri. Our findings give insight into the evolution of sex chromosomes in plants and may help to develop sustainable strategies for weed management.


Author(s):  
Irina Alborova ◽  
◽  
Kharis Mustafin ◽  
Maria Mednikova ◽  
Alexandra Buzhilova ◽  
...  

Introduction. The article presents the results of paleogenetic studies of medieval human remains of three people found in a closed archaeological complex (building 32) revealed during the excavations in 2007 in the Taynitsky Garden of the Moscow Kremlin (supervisor of excavations: N.A. Makarov). Previous studies on the dating of the complex links it to the devastation of Moscow by the troops of Tokhtamysh Khan in August 1382. The archaeological layer was formed at a time as a result of a fire and contained the remains of two adults and a 3-4 year old child who remained unburied. The aim of this work was the genetic study of the ancient DNA of the remains of people who died in the 14th century, clarification of their gender, determination of kinship and presumptive origin. Material and methods. For genetic examination, teeth were selected (permanent for adults, primary for a child). The laboratory research algorithm included a set of measures to protect archaeological DNA from contamination, sample preparation and extraction of DNA from dental remains, analysis of STR markers of the Y chromosome in males, analysis of ALU markers of autosomal chromosomes, targeted NGS sequencing of hyper-variable segments of mitochondrial DNA. Results and conclusion. Using the methods of molecular genetic research, it was possible to confirm that a man, a young woman and a child (boy) died in the fire. Based on the analysis of autosomal markers, with a high degree of probability (99.9%), a close biological relationship between a woman and a child (mother-son) was revealed. The man was not a relative of either the woman or the child. The mtDNA haplogroups and STR markers of the male specific Y chromosome identified in all three individuals are generally characteristic of the Slavic population of modern Europe. The mt haplogroup J1c, found in mother and child, is now most characteristic of the inhabitants of Europe. The man has a mitochondrial haplogroup K2, which is found mainly in Northwestern Europe.


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