Molecular aspects of sex determination in mice: an alternative model for the origin of the Sxr region

1988 ◽  
Vol 322 (1208) ◽  
pp. 119-124 ◽  
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
Alternative Model ◽  
Dna Analysis ◽  
Recombinant Dna ◽  
Specific Antigen ◽  
Partial Deletion ◽  
Molecular Aspects ◽  
Male Specific

Using a combination of in situ mapping and DNA analysis with recombinant DNA probes specific for the Sxr region of the mouse Y chromosome, we show that both the gene(s) controlling primary sex determination and the expression of the male-specific antigen H-Y ( Tdy and Hya respectively) are located on the minute short arm of the mouse Y chromosome. We demonstrate that the H-Y - variant of Sxr (Sxr') arose by a partial deletion within the Sxr region and propose an alternative model for the generation of the original Sxr region.

Sex determination in mice: Y and chromosome 17 interactions

Development ◽  
1987 ◽  
Vol 101 (Supplement) ◽  
pp. 25-32
Author(s):  
Robert P. Erickson ◽  
Edward J. Durbin ◽  
Laura L. Tres
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
Dna Sequences ◽  
Sex Differentiation ◽  
Specific Antigen ◽  
Inbred Strains ◽  
Chromosome 17 ◽  
Male Sex ◽  
Male Specific ◽  
Type Chromosome

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.

scholarly journals Occurrence of Gonadoblastoma in Females with Turner Syndrome and Y Chromosome Material: A Population Study*

2000 ◽  
Vol 85 (9) ◽  
pp. 3199-3202 ◽  
Author(s):  
Claus Højbjerg Gravholt ◽  
Jens Fedder ◽  
Rune Weis Naeraa ◽  
Jørn Müller
Keyword(s):  
Risk Factor ◽  
Turner Syndrome ◽  
Y Chromosome ◽  
Carcinoma In Situ ◽  
Dna Analysis ◽  
Epidemiological Studies ◽  
Histopathological Evaluation ◽  
Primer Sets ◽  
Chromosome Material

Abstract The presence of Y chromosome material in patients with Turner syndrome is a risk factor for the development of gonadoblastoma. However, no cases with gonadoblastoma or other ovarian malignancies have been found in epidemiological studies of cancer, morbidity, or mortality in Turner syndrome. We examined 114 females with Turner syndrome for the presence of Y chromosome material by PCR. Initially, five different primer sets were used. Y Chromosome-positive individuals were further examined with an additional four primer sets. We found 14 (12.2%; 95% confidence interval, 6.9–19.7%) patients who had Y chromosome material. The karyotype in 7 of these patients did not suggest the presence of Y chromosome material. Seven of the patients had been ovariectomized before entering the study due to verified Y chromosome material, whereas three patients were operated upon after the DNA analysis. The histopathological evaluations showed that 1 of the 10 ovariectomized patients actually had a gonadoblastoma. The rest of the patients did not have gonadoblastoma or carcinoma in situ on histopathological evaluation. Three patients (age, >50 yr) positive for Y chromosome material chose not to have ovariectomy performed, and detailed ultrasonographies did not suggest the presence of gonadoblastoma. The frequency of Y chromosome material is high in Turner syndrome (12.2%), but the occurrence of gonadoblastoma among Y-positive patients seems to be low (7–10%), and the risk may have been overestimated in previous studies, perhaps due to problems with selection bias. This study emphasizes the need for prospective unbiased studies.

H-Y antigen and sex determination

1988 ◽  
Vol 322 (1208) ◽  
pp. 73-81 ◽  
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
Original Description ◽  
Specific Factor ◽  
Female Gonad ◽  
Cell Stage ◽  
Stage Of Development ◽  
Development Data ◽  
Male Skin ◽  
Male Specific

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.

scholarly journals A New and Improved Automated Technology for Early Sex Determination of Ginkgo biloba

2008 ◽  
Vol 34 (5) ◽  
pp. 300-307
Author(s):  
Vincent Echenard ◽  
François Lefort ◽  
Gautier Calmin ◽  
Robert Perroulaz ◽  
Lassaad Belhahri
Keyword(s):  
Sex Determination ◽  
Ginkgo Biloba ◽  
Dna Analysis ◽  
Random Amplified Polymorphic Dna ◽  
Easy Method ◽  
Decamer Primer ◽  
Automated Technology ◽  
Sexual Cross ◽  
Male Specific

Random amplified polymorphic DNA (RAPD) technique with male associated decamer primer S1478 was used to amplify DNA from 72 leaf samples collected from Ginkgo biloba trees with known sexual determinism in the canton of Geneva, Switzerland. This marker was found to be male-specific and was lacking in all female plants. Automated random polymorphic DNA analysis (ARPA), a new automated technology developed in the frame of this work, proved highly effective in distinguishing males and females with 100% efficiency and successful in male and female discrimination from a collection of young seedlings derived from a sexual cross. Our findings provide unambiguous evidence that ARPA combined with the male-associated decamer primer S1478 could be considered an efficient, rapid, and easy method to make an early sex determination in the dioecious tree Ginkgo biloba.

scholarly journals The Snakeskin Gourami (Trichopodus pectoralis) Tends to Exhibit XX/XY Sex Determination

Fishes ◽  
2021 ◽  
Vol 6 (4) ◽  
pp. 43
Author(s):  
Thitipong Panthum ◽  
Nararat Laopichienpong ◽  
Ekaphan Kraichak ◽  
Worapong Singchat ◽  
Dung Ho My Nguyen ◽  
...  
Keyword(s):  
Sex Differences ◽  
Sex Determination ◽  
Y Chromosome ◽  
Cytogenetic Analysis ◽  
Genotyping By Sequencing ◽  
Sexually Dimorphic ◽  
Determination System ◽  
Sex Determination System ◽  
Male Specific ◽  
Determination Mechanism

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.

scholarly journals Reconstruction of the birth of a male sex chromosome present in Atlantic herring

2020 ◽  
Vol 117 (39) ◽  
pp. 24359-24368
Author(s):  
Nima Rafati ◽  
Junfeng Chen ◽  
Amaury Herpin ◽  
Mats E. Pettersson ◽  
Fan Han ◽  
...  
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Small Region ◽  
Atlantic Herring ◽  
Genes Encoding ◽  
Molecular Machinery ◽  
Suppressed Recombination ◽  
Male Specific

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.

scholarly journals Male linked genomic region determines sex in dioecious Amaranthus palmeri

2020 ◽  
Author(s):  
Cátia José Neves ◽  
Maor Matzrafi ◽  
Meik Thiele ◽  
Anne Lorant ◽  
Mohsen B Mesgaran ◽  
...  
Keyword(s):  
Sex Determination ◽  
Genetic Control ◽  
Y Chromosome ◽  
Weed Management ◽  
Draft Genome ◽  
Amaranthus Palmeri ◽  
Specific Sequence ◽  
Male And Female ◽  
Evolutionary State ◽  
Male Specific

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.

Evolution of a mouse Y chromosomal sequence flanked by highly repetitive elements

Genome ◽  
1987 ◽  
Vol 29 (2) ◽  
pp. 380-383 ◽  
Author(s):  
Yutaka Nishioka ◽  
Estelle Lamothe
Keyword(s):  
Y Chromosome ◽  
Dna Sequences ◽  
Recombinant Dna ◽  
Genomic Library ◽  
Repetitive Elements ◽  
Specific Accumulation ◽  
Key Words Mouse ◽  
Recombinant Dna Techniques ◽  
Male Specific ◽  
Mouse Genomic

Mammalian primary sex is determined by the presence or absence of the Y chromosome. However, little is known about the molecular processes through which the Y chromosome exerts its action. We applied recombinant DNA techniques to isolate mouse Y chromosomal fragments and described previously a clone designated as AC11 (Y. Nishioka and E. Lamothe. 1986. Genetics, 113: 417–432). To obtain information on DNA sequences that flank AC11, we screened a mouse genomic library for the presence of AC11-related sequences and isolated over 50 positive clones. In this report we describe clones ACC2 and ACC3, both of which contain highly repetitive elements. Using a male-specific portion of these clones, we compared DNA's isolated from mice (Mus musculus, M. hortulanus, M. spretus, M. cookii, M. pahari, and M. platythrix), rat, hamster, and guinea pig and obtained results that agree with the phylogenetic relationships deduced from morphological and biochemical studies. The male-specific accumulation of the related sequences was found only in M. musculus, M. hortulanus, and M. spretus. Key words: mouse, Y chromosome, repetitive sequence, genome evolution.

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 ◽  
...  
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
Habitat Destruction ◽  
Specific Marker ◽  
Contact Map ◽  
Arapaima Gigas ◽  
Male Sex ◽  
Male Specific ◽  
Inhibitor Of Dna Binding ◽  
High Degree

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.

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