Mapping the Y chromosome

Development ◽  
1987 ◽  
Vol 101 (Supplement) ◽  
pp. 39-39
Author(s):  
P. N. Goodfellow
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
X Chromosome ◽  
Dna Probes ◽  
Genetic Maps ◽  
Variable Amount ◽  
Regional Localization ◽  
Y Chromosomes ◽  
Xx Males ◽  
Human Y Chromosome

DNA probes isolated from the human Y chromosome have been used to resolve two fundamental problems concerning the biology of sex determination in man. Coincidentally, resolution of these problems has generated genetic maps of the short arm of the human Y chromosome and has allowed the regional localization of TDF. The first problem to be solved was the origin of XX males (de la Chapelle, this symposium): the majority of XX males are caused by a telomeric exchange between the X and Y chromosomes that results in TDF and a variable amount of Y-derived material being transferred to the X chromosome. The differing amounts of Y-derived material present in XX males has been used as the basis of a ‘deletion’ map of the Y chromosome (Müller; Ferguson-Smith & Affara; this symposium).

Accidental X-Y recombination and the aetiology of XX males and true hermaphrodites

1988 ◽  
Vol 322 (1208) ◽  
pp. 133-144 ◽  
Keyword(s):  
Sex Determination ◽  
X Chromosome ◽  
Gonadal Dysgenesis ◽  
X Inactivation ◽  
Predicted Amino Acid Sequence ◽  
Dna Library ◽  
Xy Gonadal Dysgenesis ◽  
Y Chromosomes ◽  
Xx Males ◽  
Synthetic Oligonucleotides

Accidental recombination between the differential segments of the X and Y chromosomes in man occasionally allows transfer of Y-linked sequences to the X chromosome leading to testis differentiation in so-called XX males. Loss of the same sequences by X-Y interchange allows female differentiation in a small proportion of individuals with XY gonadal dysgenesis. A candidate gene responsible for primary sex determination has recently been cloned from within this part of the Y chromosome by Page and his colleagues. The observation that a homologue of this gene is present on the short arm of the X chromosome and is subject to X-inactivation, raises the intriguing possibility that sex determination in man is a quantitative trait. Males have two active doses of the gonad determining gene, and females have one dose. This hypothesis has been tested in a series of XX males, XY females and XX true hermaphrodites by using a genomic probe, CMPXY1, obtained by probing a Y-specific DNA library with synthetic oligonucleotides based on the predicted amino-acid sequence of the sex-determining protein. The findings in most cases are consistent with the hypothesis of homologous gonad-determining genes, GDX and GDY , carried by the X and Y chromosomes respectively. It is postulated that in sporadic or familial XX true hermaphrodites one of the GDX loci escapes X-inactivation because of mutation or chromosomal rearrangement, resulting in mosaicism for testis and ovary-determining cell lines in somatic cells. Y-negative XX males belong to the same clinical spectrum as XX true hermaphrodites, and gonadal dysgenesis in some XY females may be due to sporadic or familial mutations of GDX .

scholarly journals Mismatches between the genetic and phenotypic sex in the wild Kou population of Nile tilapia Oreochromis niloticus

PeerJ ◽  
2019 ◽  
Vol 7 ◽  
pp. e7709 ◽  
Author(s):  
Rokyatou Sissao ◽  
Helena D’Cotta ◽  
Jean-François Baroiller ◽  
Aboubacar Toguyeni
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
Nile Tilapia ◽  
Sex Ratios ◽  
Major Effect ◽  
Progeny Testing ◽  
Japanese Strain ◽  
Y Chromosomes ◽  
In The Wild ◽  
Xx Males

Sex determination and sex chromosomes can be very diverse between teleost species. The group of tilapias shows a polymorphism in sex determination not only between closely related species but also between domestic strains within a species. In the Nile tilapia, the major effect genes and therefore the Y chromosome have been located on either linkage group 1 (LG1) or LG23 depending on the strains. In a Japanese strain, the sex determinant of LG23 (the amhY gene) has been identified as a duplicated amh (anti-Müllerian hormone) gene, with its gametolog found on the X chromosome (amhX). AmhY is located in tandem with the amhΔY gene (a truncated form) on the Y chromosome. X and Y chromosome markers based on the amh genes have been validated only on a few domestic strains but not in wild populations. Here, we used four of these markers in order to examine (1) the possible variation in sex determination of a wild population of Nile tilapia living in Lake Kou (Burkina Faso), (2) putative polymorphisms for these amh copies and (3) the existence of sex reversed individuals in the wild. Our genotyping of 91 wild Kou individuals with the amh sex-diagnostic markers of LG23 showed that while phenotypic females were all XX, phenotypic males were either XY or XX. Progeny testing of eight of these XX males revealed that one of these males consistently sired all-female progenies, suggesting that it is a wild sex reversed male (which could result from high temperature effects). The other XX males gave balanced sex ratios, suggesting that sex is controlled by another locus (possibly on another LG) which may be epistatically dominant over the LG23 locus. Finally, identification of unexpected amh genotypes was found for two individuals. They produced either balanced or female-biased sex ratios, depending on the breeder with whom they were crossed, suggesting possible recombination between the X and the Y chromosomes.

scholarly journals Spot Urine for Sex Determination Forensic Identifications with Amelogenin Locus and Y chromosomes (DYS 19). Bercak Urin untuk Identifikasi Forensik Jenis Kelamin dengan Lokus Amelogenin dan Y Kromosom (DYS19)

2018 ◽  
Vol 20 (3) ◽  
pp. 180
Author(s):  
Yeti Eka Sispita Sari
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
X Chromosome ◽  
Sex Chromosome ◽  
Dna Amplification ◽  
Single Copy ◽  
Amelogenin Gene ◽  
Spot Urine ◽  
Y Chromosomes ◽  
Two Samples

AbstractBackground:  Amelogenin gene was a single copy gene located in an X chromosome and a Y chromosome. The location of amelogenin gene for identification of sex chromosome has good variability between the form and the shape of the X chromosome and the Y chromosome and between Amelogenin alleles among different populations. Purpose: To prove urine spot examination on the results of the sex determination through Deoxyribo Nucleid Acid (DNA) isolation using amelogenin and Y chromosome loci (DYS19). Methods: Spotting the microscopic examination of urine samples to determine the presence or absence of urethral epithelial cells, followed by isolation Deoxyribo nucleid Acid (DNA) in order to determine the extent and purity of DNA amplification. Then performed Polymerase Chain Reaction (PCR) amelogenin locus at 106bp - 112bp and Y chromosomes (DYS19) at 232 -268 bp. Results: in 9 samples of men from 3 families with 3 kinship of different regions shows the results of different tests, because Amel Y variation between individual and populations method of determining the sex of 100% was inaccurate. In some men Amel Y can be removed entirely. This research should be visualized one band on the Y chromosome (DYS19) and the Amelogenin two bands during electrophoresis occurs misidentification of the sample as a woman. Conclusions: Identification of sex using Amelogenin locus and Y chromosomes (DYS19) has six identical and ambiguous results because the two samples shown as the sign of men but visualized as women, another sample was not visualized because of the thick level and concentration of Deoxyribo nucleid Acid (DNA).Keywords: Urine Spot, Sex Determination, Amelogenin, Y chromosome (DYS19).

Roles of Anti-Müllerian hormone (Amh) and its duplicates in sex determination and germ cell proliferation of Nile tilapia

Genetics ◽  
2021 ◽  
Author(s):  
Xingyong Liu ◽  
Shengfei Dai ◽  
Jiahong Wu ◽  
Xueyan Wei ◽  
Xin Zhou ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Sex Determination ◽  
Germ Cell ◽  
Y Chromosome ◽  
X Chromosome ◽  
Nile Tilapia ◽  
Critical Period ◽  
Sex Reversal ◽  
Homozygous Mutation ◽  
Germ Cell Proliferation

Abstract Duplicates of amh are crucial for fish sex determination and differentiation. In Nile tilapia, unlike in other teleosts, amh is located on X chromosome. The Y chromosome amh (amh△-y) is mutated with 5 bp insertion and 233 bp deletion in the coding sequence, and tandem duplicate of amh on Y chromosome (amhy) has been identified as the sex determiner. However, the expression of amh, amh△-y and amhy, their roles in germ cell proliferation and the molecular mechanism of how amhy determines sex is still unclear. In this study, expression and functions of each duplicate were analyzed. Sex reversal occurred only when amhy was mutated as revealed by single, double and triple mutation of the three duplicates in XY fish. Homozygous mutation of amhy in YY fish also resulted in sex reversal. Earlier and higher expression of amhy/Amhy was observed in XY gonads compared with amh/Amh during sex determination. Amhy could inhibit the transcription of cyp19a1a through Amhr2/Smads signaling. Loss of cyp19a1a rescued the sex reversal phenotype in XY fish with amhy mutation. Interestingly, mutation of both amh and amhy in XY fish or homozygous mutation of amhy in YY fish resulted in infertile females with significantly increased germ cell proliferation. Taken together, these results indicated that up-regulation of amhy during the critical period of sex determination makes it the sex-determining gene, and it functions through repressing cyp19a1a expression via Amhr2/Smads signaling pathway. Amh retained its function in controlling germ cell proliferation as reported in other teleosts, while amh△-y was nonfunctionalized.

Clues from other animals and theoretical considerations

Development ◽  
1987 ◽  
Vol 101 (Supplement) ◽  
pp. 3-4
Author(s):  
Anne McLaren
Keyword(s):  
Sex Determination ◽  
Genetic Control ◽  
Y Chromosome ◽  
X Chromosome ◽  
X Chromosomes ◽  
The Third ◽  
Mouse Species ◽  
Primary Male ◽  
Theoretical Considerations ◽  
State Of Activity

In the first two papers of this volume, the genetic control of sex determination in Caenorhabditis and Drosophila is reviewed by Hodgkin and by Nöthiger & Steinmarin-Zwicky, respectively. Sex determination in both cases depends on the ratio of X chromosomes to autosomes, which acts as a signal to a cascade of règulatory genes located either on autosomes or on the X chromosome. The state of activity of the last gene in the sequence determines phenotypic sex. In the third paper, Erickson & Tres describe the structure of the mouse Y chromosome and the polymorphisms that have been detected in different mouse species and strains. As in all mammals, the Y carries the primary male-determining locus; autosomal genes may also be involved in sex determination, but they must act down-stream from the Y-linked locus.

A Molecular Approach to the Study of the Human Y Chromosome and Anomalies of Sex Determination in Man

1986 ◽  
Vol 51 (0) ◽  
pp. 237-248 ◽  
Author(s):  
E. Seboun ◽  
P. Leroy ◽  
M. Casanova ◽  
E. Magenis ◽  
C. Boucekkine ◽  
...  
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
Molecular Approach ◽  
Human Y Chromosome

The use of cloned Y chromosome-specific DNA probes for fetal sex determination in first trimester prenatal diagnosis

1984 ◽  
Vol 66 (4) ◽  
pp. 347-351 ◽  
Author(s):  
J. R. Gosden ◽  
C. M. Gosden ◽  
S. Christie ◽  
H. J. Cooke ◽  
J. M. Morsman ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Determination ◽  
Y Chromosome ◽  
First Trimester ◽  
Dna Probes ◽  
Fetal Sex

WHITE EYE AND CURLED, RECESSIVE MUTANTS ON THE X CHROMOSOME OF ANOPHELES ALBIMANUS

1982 ◽  
Vol 24 (6) ◽  
pp. 661-665 ◽  
Author(s):  
J. A. Seawright ◽  
M. Q. Benedict ◽  
S. Narang ◽  
P. E. Kaiser
Keyword(s):  
Sex Determination ◽  
X Chromosome ◽  
Anopheles Albimanus ◽  
Recessive Lethal ◽  
Y Chromosomes ◽  
Determination System ◽  
Sex Determination System ◽  
Mode Of Inheritance

Two new mutants, white eye (we) and curled (cr), of Anopheles albimanus Wiedemann were isolated and studied. Both mutants are recessive and are approximately 18.9 ± 1.9 units apart on the X chromosome. White eye is fully viable, but cr is a recessive lethal. The mode of inheritance of these two mutants provides further evidence of an X-Y sex determination system in An. albimanus and a lack of homology between the X and Y chromosomes.

Assays of testis development in the mouse distinguish three classes of domesticus-type Y chromosome

Genome ◽  
1988 ◽  
Vol 30 (6) ◽  
pp. 870-878 ◽  
Author(s):  
Fred G. Biddle ◽  
Yutaka Nishioka
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
House Mouse ◽  
Mus Musculus ◽  
Autosomal Recessive ◽  
Recessive Gene ◽  
Laboratory Strain ◽  
Sex Reversal ◽  
Differential Interaction ◽  
Y Chromosomes

The Y chromosome of Mus musculus poschiavinus interacts with the autosomal recessive gene tda-1b of the C57BL/6J laboratory strain of the house mouse to cause complete or partial sex reversal. Ovaries or ovotestes develop in a substantial proportion of the XY fetuses. Several different Y-specific DNA probes distinguish two major types of Y chromosome in the house mouse and they are represented by M. m. domesticus and M. m. musculus. The poschiavinus Y chromosome appears identical to the domesticus Y. The developmental distribution of the gonad types was examined in the first backcross or N2 generation of fetuses in C57BL/6J with six different domesticus-type Y chromosomes and, as controls, three different musculus-type Y chromosomes. Gonadal hermaphrodites were found with three of the six domesticus-type Y chromosomes. Both overall frequency and phenotypic distribution of types of gonadal hermaphrodites identify three classes of domesticus-type Y chromosome by their differential interaction with the C57BL/6J genetic background.Key words: mouse, Y chromosomes, gonadal hermaphrodites, primary sex determination.

The degenerate Y chromosome – can conversion save it?

2004 ◽  
Vol 16 (5) ◽  
pp. 527 ◽  
Author(s):  
Jennifer A. Marshall Graves
Keyword(s):  
Gene Conversion ◽  
Y Chromosome ◽  
Genetic Drift ◽  
Sex Chromosome ◽  
Chromosome Differentiation ◽  
Y Chromosomes ◽  
Speed Up ◽  
Selection For ◽  
Human Y Chromosome

The human Y chromosome is running out of time. In the last 300 million years, it has lost 1393 of its original 1438 genes, and at this rate it will lose the last 45 in a mere 10 million years. But there has been a proposal that perhaps rescue is at hand in the form of recently discovered gene conversion within palindromes. However, I argue here that although conversion will increase the frequency of variation of the Y (particularly amplification) between Y chromosomes in a population, it will not lead to a drive towards a more functional Y. The forces of evolution have made the Y a genetically isolated, non-recombining entity, vulnerable to genetic drift and selection for favourable new variants sharing the Y with damaging mutations. Perhaps it will even speed up the decline of the Y chromosome and the onset of a new round of sex-chromosome differentiation. The struggle to preserve males may perhaps lead to hominid speciation.

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