Directional dominance and a developmental model for the expression of the Tda testis-determining autosomal trait of the mouse

Genome ◽  
1996 ◽  
Vol 39 (3) ◽  
pp. 520-527 ◽  
Author(s):  
Brenda A. Eales ◽  
Mirna Nahas ◽  
Fred G. Biddle
Keyword(s):  
Y Chromosome ◽  
Laboratory Mouse ◽  
Strain Differences ◽  
Gonadal Development ◽  
Developmental Model ◽  
Mus Musculus Domesticus ◽  
Native Strain ◽  
Testis Development ◽  
Threshold Trait ◽  
Normally Distributed

The POSCH-2 Y chromosome from the poschiavinus variety of Mus musculus domesticus causes incomplete testis development in the recessive autosomal background of the C57BL/6J laboratory mouse strain. Testis development is normal with the POSCH-2 Y in its native strain background as well as in some strains of the laboratory mouse such as DBA/2J. The phenotype or expression of XY gonadal hermaphroditism in a C57BL/6J strain, which was constructed to be consomic for the POSCH-2 Y, is a threshold trait in which liability is normally distributed and thresholds in the development of the testis define the probability of observing XY embryos with different combinations of ovaries, ovotestes, and testes. The difference in this testis-determining autosomal or Tda trait between the C57BL/6J and DBA/2J strain pair has been demonstrated to be multigenic. We conducted a survey among different strains of the laboratory mouse by test mating females with C57BL/6J.Y-POS males that are consomic for the POSCH-2 Y We identified five groups of strains with significantly different response of XY gonadal hermaphroditism in their XY-POS F1 test embryos. In test embryos, four groups of strains produced gonadal hermaphroditism with different distributions of the types of gonad that appear to have the same variance or shape of a normally distributed liability, but the means of the distributions are at different locations on a scale of gonadal development. The fifth group of strains produced only testes in the test embryos. Several additional matings produced results suggesting that a model of dominance, in the direction of more complete testis development, could interpret the strain differences. The differences in response to the POSCH-2 Y chromosome among the five groups of strains may represent the phenotypes of the genetic recombinants in the Tda trait that were suggested previously by a segregation analysis between C57BL/6J and DBA/2J. The strains may also provide the tools to further dissect the allelic differences and locus determinants of the Tda trait. Key words : mouse, Y chromosome, autosomal testis-determining genes, developmental model of XY gonadal hermaphroditism, primary sex determination.

Most classical Mus musculus domesticus laboratory mouse strains carry a Mus musculus musculus Y chromosome

Nature ◽  
1985 ◽  
Vol 315 (6014) ◽  
pp. 70-72 ◽  
Author(s):  
C. E. Bishop ◽  
P. Boursot ◽  
B. Baron ◽  
F. Bonhomme ◽  
D. Hatat
Keyword(s):  
Y Chromosome ◽  
Mus Musculus ◽  
Laboratory Mouse ◽  
Mouse Strains ◽  
Mus Musculus Domesticus ◽  
Mus Musculus Musculus

The testis-determining autosomal trait, Tda-1, of C57BL/6J is determined by more than a single autosomal gene when compared with DBA/2J mice

Genome ◽  
1994 ◽  
Vol 37 (2) ◽  
pp. 296-304 ◽  
Author(s):  
Fred G. Biddle ◽  
James R. Eisner ◽  
Brenda A. Eales
Keyword(s):  
Y Chromosome ◽  
Congenic Strain ◽  
Autosomal Recessive ◽  
Recombinant Inbred Strain ◽  
Single Gene ◽  
Autosomal Gene ◽  
Mus Musculus Domesticus ◽  
Homozygous State ◽  
Recessive Factor ◽  
Testis Development

The putative Tda-1 or testis-determining autosomal trait of the C57BL/6J mouse strain came to attention when the Y chromosome from the poschiavinus variety of Mus musculus domesticus was introduced into C57BL/6J by backcross matings. The F1 generation expressed normal testis development in XY individuals with the poschiavinus Y chromosome. In the backcross and subsequent crosses to C57BL/6J females, XY individuals expressed ovaries bilaterally or various combinations of an ovotestis with a contralateral ovary or testis or bilateral ovotestes and a few had testes bilaterally. Some of the previous breeding data appeared to support the hypothesis that C57BL/6J had an autosomal recessive factor that differed from the poschiavinus strain and, in the homozygous state, caused incomplete testis development with the poschiavinus Y chromosome. Subsequent attempts to map the Tda-1 factor, using a recombinant inbred strain approach, failed to localize Tda-1 and this suggests it might map to different chromosomes depending on which strain pairs are used. We constructed two strains of C57BL/6J and DBA/2J that are congenic for the poschiavinus Y chromsome. In the C57BL/6J.Y-POS congenic strain, liability to express incomplete testis development is normally distributed and thresholds in development specify the probability (or areas under the normal distribution) of different classes of ovary, ovotestis, and testis combinations. Testis development is normal in the DBA/2J.Y-POS congenic strain. With the two congenic strains and their normal parental strains we were able to conduct standard crosses to examine the reciprocal F1 and four types of backcross generations to the C57BL/6J strain in which all XY individuals have the poschiavinus Y chromosome. The Tda-1 trait of C57BL/6J is recessive to DBA/2J, but the segregating backcross generations reject the single gene model.Key words: mouse, Y chromosome, gonadal hermaphrodites, primary sex determination.

Two types of mouse (Mus musculus domesticus) Y chromosomes in Quebec

Genome ◽  
1992 ◽  
Vol 35 (3) ◽  
pp. 534-537
Author(s):  
Yutaka Nishioka
Keyword(s):  
Y Chromosome ◽  
House Mouse ◽  
Mus Musculus ◽  
Repetitive Sequence ◽  
The Other ◽  
Chromosome Polymorphism ◽  
Mus Musculus Domesticus ◽  
Y Chromosomes

A Y chromosomal repetitive sequence identified two types of Y chromosomes in mice (Mus musculus domesticus) caught near Ste. Anne de Bellevue, Quebec. One type is apparently identical to the Y chromosome found in Maryland, Delaware, and California, whereas the other type is similar, but not identical, to the Y chromosome present in M.m. poschiavinus, an Alpine race of M.m. domesticus. These findings suggest that the domesticus Y chromosome is highly polymorphic and thus useful for elucidating the relationships among American and European house mouse populations.Key words: mouse Y chromosome, polymorphism, Mus musculus domesticus, repetitive sequence, Quebec.

Segregation analysis of the testis-determining autosomal trait, Tda, that differs between the C57BL/6J and DBA/2J mouse strains suggests a multigenic threshold model

Genome ◽  
1996 ◽  
Vol 39 (2) ◽  
pp. 322-335 ◽  
Author(s):  
James R. Eisner ◽  
Brenda A. Eales ◽  
Fred G. Biddle
Keyword(s):  
Y Chromosome ◽  
Segregation Analysis ◽  
Threshold Model ◽  
Single Gene ◽  
Mouse Strains ◽  
Gene Model ◽  
Backcross Generation ◽  
Testis Development ◽  
Consomic Strain ◽  
Strain Background

The testis-determining autosomal trait (Tda) of the mouse was uncovered when the Y chromosome of the poschiavinus variety of Mus musculus domesticus was introduced into the C57BL/6J laboratory strain background. Testis development is normal in the F1 generation but, in the backcross and subsequent crosses to C57BL/6J females, XY individuals with the poschiavinus Y chromosome expressed bilateral ovaries or various combinations of an ovotestis with a contralateral ovary or testis or bilateral ovotestes and few had testes bilaterally. In other strain backgrounds, such as DBA/2J, XY individuals with the poschiavinus Y chromosome always expressed normal testes bilaterally. The first breeding analysis of this difference in the interaction of strain background with the poschiavinus Y chromosome suggested that the Tda trait was due to a single gene, but attempts to map it failed. We constructed two strains of C57BL/6J and DBA/2J that are consomic for the poschiavinus Y chromosome in order to conduct a segregation analysis of the Tda trait. In the C57BL/6J.Y-POS consomic strain, liability to express incomplete testis development is normally distributed and thresholds in development specify the probability of different classes of ovary, ovotestis, and testis combinations. Testis development is complete in the DBA/2J.Y-POS consomic strain. We demonstrated previously that the Tda trait of C57BL/6J is recessive to that of DBA/2J and the segregating first backcross generation of embryos rejected the single-gene model. We have extended our analysis to a F2 generation of embryos that also rejects a single-gene model. We also report a test mating analysis of the first backcross generation. It was initiated to provide an independent assessment of the single-gene model, but the analysis of the distribution of test mating results suggests that the difference in the Tda trait between C57BL/6J and DBA/2J may be due to a small number of loci, possibly four or five, and that the phenotypic effect between loci may be additive. Key words : mouse, Y chromosome, gonadal hermaphrodites, primary sex determination, autosomal testis-determining genes, multigenic threshold model.

scholarly journals 275.Calmodulin-dependent nuclear import pathway of the testis-determining factor SRY

2004 ◽  
Vol 16 (9) ◽  
pp. 275
Author(s):  
G. Kaur ◽  
A. Delluc-Clavieres ◽  
I. Poon ◽  
D. A. Jans
Keyword(s):  
Nuclear Import ◽  
Protein Import ◽  
Fluorescent Protein ◽  
Fluorescent Proteins ◽  
Gonadal Development ◽  
Nuclear Accumulation ◽  
Related Factor ◽  
Testis Development ◽  
New Findings

Modulation of the nuclear entry of transcription factors (TFs) and chromatin components is a means by which eukaryotic cells can regulate gene expression in response to extracellular signals and the cell cycle during differentiation and development. TFs and chromatin components access the nucleus through nuclear localisation sequences (NLSs), which mediate interaction with components of the cellular nuclear import machinery, such as members of the importin superfamily. The Ca2+-binding protein calmodulin (CaM ) has previously been shown to bind at or near NLSs in several nuclear-localising proteins that have important roles in testis development including the Y chromosome-encoded HMG-domain-carrying chromatin remodelling factor SRY, and related factor SOX9, both of which are key regulators of gonadal development. SRY function in the nucleus of somatic cells of the fetal gonad, in particular, is essential for development of a testis in males. Here we present new findings implicating a role for CaM in modulating SRY nuclear accumulation, whereby treatment of transfected cells with CaM antagonists significantly reduces nuclear accumulation of green fluorescent protein (GFP)-fusion proteins encoding either full length SRY or the SRY HMG domain alone. An in vitro nuclear transport assay using bacterially expressed fluorescent proteins showed similar results, with native gel electrophoresis/fluorimaging and fluorescence polarisation assays, indicating direct binding of CaM to the SRY HMG domain in Ca2+-dependent fashion. Since clinical mutations resulting in sex reversal occur within SRY's CaM-binding NLS, these results may shed new insight into CaM-dependent pathways of nuclear protein import, and how this may relate to testis development.

Human SRY expression at the sex-determining period is insufficient to drive testis development in mice

Endocrinology ◽  
2021 ◽  
Author(s):  
Atsumi Tsuji-Hosokawa ◽  
Yuya Ogawa ◽  
Iku Tsuchiya ◽  
Miho Terao ◽  
Shuji Takada
Keyword(s):  
Mouse Model ◽  
Y Chromosome ◽  
Initiation Factor ◽  
Reading Frame ◽  
Testis Development ◽  
Significant Difference ◽  
Exon 1 ◽  
The Difference ◽  
Cortical Regions ◽  
Species Specific

Abstract The sex-determining region of the Y chromosome, Sry/SRY, is an initiation factor for testis development in both humans and mice. Although the functional compatibility between murine SRY and human SRY was previously examined in transgenic mice, their equivalency remains inconclusive. As molecular interaction and timeline of mammalian sex determination were mostly described in murine experiments, we generated a mouse model in which Sry was substituted with human SRY to verify the compatibility. The mouse model had the human SRY open reading frame at the locus of murine Sry exon 1 (Sry  (SRY) mice) and was generated using the CRISPR/Cas9 system. The reproductive system of the mice was analyzed. The expression of human SRY in the fetal gonadal ridge of Sry  (SRY) mice was detected. The external and internal genitalia of adult Sry  (SRY) mice were similar to those of wild-type females, without any significant difference in anogenital distance. Sry  (SRY) mice obtained gonads, which were morphologically considered as ovaries. Histological analysis revealed that the cortical regions of gonads from adult Sry  (SRY) mice contained few follicles. We successfully replaced genes on the Y chromosome with targeted genome editing using the CRISPR/Cas9 system. Since the Sry  (SRY) XY mice did not develop testis, we concluded that human SRY was insufficient to drive testis development in mouse embryos. The difference in response elements and lack of glutamine-rich domains may have invalidated human SRY function in mice. Signal transduction between Sry/SRY expression and Sox9/SOX9 activation is possibly organized in a species-specific manner.

Development and fertility of ovaries in the B6.YDOM sex-reversed female mouse

Development ◽  
1989 ◽  
Vol 107 (1) ◽  
pp. 95-105 ◽  
Author(s):  
T. Taketo-Hosotani ◽  
Y. Nishioka ◽  
C.M. Nagamine ◽  
I. Villalpando ◽  
H. Merchant-Larios
Keyword(s):  
Y Chromosome ◽  
Female Mouse ◽  
External Genitalia ◽  
Endocrine Function ◽  
Mus Musculus Domesticus ◽  
Primordial Follicles ◽  
Individual Mouse ◽  
Estrous Cyclicity ◽  
The Individual ◽  
Medullary Cords

When the Y chromosome of Mus musculus domesticus (YDOM) was introduced onto the C57BL/6 (B6) mouse background, half of the XY progeny (B6.YDOM) developed bilateral ovaries and female internal and external genitalia. We examined the fertility of the B6.YDOM sex-reversed female mouse. The chromosomal sex of the individual mouse was identified by dot hybridization with mouse Y chromosome-specific DNA probes. The results indicated that all XY females lacked regular estrous cyclicity although most were able to mate and ovulate after treatment with gonadotropins. When they had been ovariectomized and grafted with ovaries from the XX female litter mate, they initiated estrous cyclicity. Reciprocally, the XX female that had received XY ovarian grafts did not resume estrous cyclicity. Development of the XY ovary was morphologically comparable to the XX ovary until 16 day of gestation (d.g.), when most germ cells had reached the zygotene or pachytene stage of meiotic prophase. However, by the day of delivery (19 or 20 d.g.), no oocyte remained in the medullary cords of the XY ovary. In the control XX ovary, the first generation of follicles developed in the medullary region, and 5 delta-3 beta-hydroxysteroid dehydrogenase (3 beta-HSDH) activity appeared first in the stromal cells around growing follicles by 10 days after birth. In contrast, in the XY ovary, follicles were not formed in the medullary region, and 3 beta-HSDH activity appeared in epithelial cells of the oocyte-free medullary cords. Primordial follicles in the cortex region continued development in both the XX and XY ovaries. These results suggest that the XY female is infertile due to a defect inside the XY ovary. The prenatal loss of oocytes in the medullary cords may be a key event leading to abnormal endocrine function, and thereby, the absence of estrous cyclicity.

Sex and death in the mouse: genetically delayed reproduction and senescence

Genome ◽  
1997 ◽  
Vol 40 (2) ◽  
pp. 229-235 ◽  
Author(s):  
F. G. Biddle ◽  
S. A. Eden ◽  
J. S. Rossler ◽  
B. A. Eales
Keyword(s):  
Genetic Model ◽  
Late Onset ◽  
Laboratory Mouse ◽  
Laboratory Strain ◽  
Antagonistic Pleiotropy ◽  
Mus Musculus Domesticus ◽  
Delayed Reproduction ◽  
Aging Studies ◽  
Aging Curve ◽  
Postponed Aging

A mammalian model of genetically postponed aging would be an important tool to test not only different mechanisms of aging but also the predictive value of various biomarkers of the aging process. Under conventional conditions, the historical strains of the laboratory mouse produce their first litter between 9 and 13 weeks of age and have a median time of death in their 2nd year. Our POSCH-2 strain, which was derived from wild-caught Mus musculus domesticus, produces its first litter in the current breeding generations at approximately 47 weeks of age and continues to breed throughout its 2nd and into its 3rd year of life. The aging curve of POSCH-2 has not yet been determined for economic reasons. Late onset of breeding is a characteristic of both females and males, but sexual maturity is more reliably assessed in females. The later breeding phenotype of POSCH-2 is genetically recessive to early breeding of the C57BL/6J historical laboratory strain and, since POSCH-2 females can be induced to ovulate at 8 weeks of age (but pregnancy does not result), the signal rather than the ovarian receptor to ovulate may be delayed. The genetically delayed reproduction and potentially longer life of the POSCH-2 strain appears to be a new trait in the mouse. The strain may be a useful mammalian model for aging studies and for the evaluation of antagonistic pleiotropy as a genetic model for the evolution of aging.Key words: delayed reproduction, senescence, aging, genetics, mouse.

Analyse génétique de la zone d'hybridation entre les deux sous-espèces de souris Mus musculus domesticus et Mus musculus musculus en Bulgarie

Genome ◽  
1988 ◽  
Vol 30 (3) ◽  
pp. 427-437 ◽  
Author(s):  
Flavie Vanlerberghe ◽  
Pierre Boursot ◽  
Josette Catalan ◽  
Svestoslav Gerasimov ◽  
François Bonhomme ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Y Chromosome ◽  
Hybrid Zone ◽  
Mus Musculus ◽  
Functional Differentiation ◽  
Restriction Pattern ◽  
The Black Sea ◽  
Mus Musculus Domesticus ◽  
The Balkans ◽  
Mus Musculus Musculus

The hybrid zone between the two subspecies of mice Mus musculus domesticus and Mus musculus musculus, which has been studied extensively in Denmark, crosses Europe to the Black Sea through the Alps and the Balkans. Two hundred and seventy-nine animals were captured in 22 localities along a transect across the Balkans. The animals were characterized for seven diagnostic nuclear loci by protein electrophoresis and by restriction pattern analysis of their mitochondrial DNA. The nuclear data show a sharp transition between the two subspecies, most of the variations in allele frequencies (from 0.9 to 0.1) occurring within a 36-km section of the transect. The introgression varies from one locus to the other and is more pronounced, in terms of distance, in M. m. musculus territory. Mitochondrial DNA introgression is important but occurs in one direction only, i.e. from M. m. musculus to M. m. domesticus, while a cytoplasmic transfer from M. m. domesticus to M. m. musculus has been reported. A previous study showed that no Y chromosome introgression occurs. The different behaviour of these three types of markers could be due to the interaction between selection against hybrid genomes and meiotic recombination. Objectively, it would appear that the genes that can introgress are neutral or nearly so and have been separated from deleterious genes they were linked to by recombination. This could explain the differential introgression between autosomal loci. The mitochondrial and Y chromosomes undergo no or very little recombination and each is transmitted as a whole. Their degree of introgression is thus indicative of the intensity of selection resulting from the amount of functional differentiation between the two taxa, which seems to be strong for the Y chromosome and weak for mitochondrial DNA. We propose that the asymmetry of nuclear introgression is due to different population structures. As M. m. musculus is relatively less structured, the rapid spreading of introgressed genes would be favoured. Such a scheme, however, can hardly account for the unidirectionality of the mitochondrial flow, which could be due to sex-dependant behaviour.Key words: mice, hybrid zone, introgression, enzyme polymorphism.

The musculus-type Y Chromosome of the laboratory mouse is of Asian origin

1992 ◽  
Vol 3 (2) ◽  
pp. 84-91 ◽  
Author(s):  
Claude M. Nagamine ◽  
Yutaka Nishioka ◽  
Kazuo Moriwaki ◽  
Pierre Boursot ◽  
Fran�ois Bonhomme ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Laboratory Mouse ◽  
Asian Origin
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