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.

Cytogenetic Observations in Infertile Men Working with Insecticidal Compounds

1978 ◽  
Vol 27 ◽  
pp. 51-56 ◽  
Author(s):  
Fiorella Shabtai ◽  
Shlomo Bichacho ◽  
Isaac Halbrecht
Keyword(s):  
Y Chromosome ◽  
Male Fertility ◽  
Reproductive Fitness ◽  
Negative Influence ◽  
Chromosomal Breakage ◽  
Infertile Men ◽  
Chemically Induced ◽  
The Individual ◽  
Chromosomal Variants ◽  
Insecticidal Compounds

The negative influence of some insecticides on male fertility has been noted. We report our cytogenetic observations on a group of infertile insecticide workers. Increased chromosomal breakage was a constant finding and the Y chromosome was especially damaged. This may account for impaired spermatogenesis. Furthermore, the involvement of heterochromatic chromosomal variants both in the individual susceptibility to the chemically induced damage and in the reproductive fitness is emphasized.

Cytogenetics and sex determination in man and mammals

1970 ◽  
Vol 2 (S2) ◽  
pp. 7-30 ◽  
Author(s):  
C. E. Ford
Keyword(s):  
Y Chromosome ◽  
External Genitalia ◽  
Mutant Gene ◽  
Normal Female ◽  
Human Female ◽  
Present Evidence ◽  
Male Development ◽  
Sex Development ◽  
Internal Genitalia ◽  
Male External Genitalia

SummarySex in man and probably throughout the class mammalia is normally determined by the presence of a Y chromosome (male) or its absence (female). The presence of genetic loci on both the long and the short arm of the X chromosome in double dose appears to be essential for the development of mature functional ovaries in the human female though a single X suffices in the female mouse.The development of masculine genital anatomy and phenotype is a consequence of prior formation of testes. In the absence of gonads of either kind, female internal and external genitalia are formed but secondary sex development fails. In rare human families a mutant gene suppresses the development of male external genitalia in 46, XY embryos but permits the development of testes and male internal genitalia. The external phenotype is normal female (syndrome of testicular feminization). A sex-linked mutant gene in the mouse has a similar effect.The locus or loci directly concerned with male development might lie wholly on the Y chromosome or might be located on another chromosome or chromosomes. In the latter case it (or they) must be repressed in the female and normally activated by a locus or loci on the Y chromosome in the male. Present evidence does not permit the exclusion of either possibility.

scholarly journals 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study

2014 ◽  
Vol 132 (6) ◽  
pp. 332-338 ◽  
Author(s):  
Rafael Fabiano Machado Rosa ◽  
Willy Francisco Bartel D'Ecclesiis ◽  
Raquel Papandreus Dibbi ◽  
Rosana Cardoso Manique Rosa ◽  
Patrícia Trevisan ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Turner Syndrome ◽  
Early Recognition ◽  
External Genitalia ◽  
Ambiguous Genitalia ◽  
Referral Hospital ◽  
Clinical Genetics ◽  
Sex Development ◽  
Genital Ambiguity ◽  
The Individual

CONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism.DESIGN AND SETTING: A retrospective study in a referral hospital in southern Brazil.METHODS: Our sample consisted of patients diagnosed at the clinical genetics service of a referral hospital in southern Brazil, from 1975 to 2012. Clinical and cytogenetic data were collected from the medical records.RESULTS: Fourteen patients were included in the sample, with ages at the first evaluation ranging from 2 days to 38 years. Nine of them had female sex of rearing and five, male. Regarding the external genitalia, most were ambiguous (n = 10). One patient presented male phenotype and was treated for a history of azoospermia, while three patients presented female phenotype, of whom two had findings of Turner syndrome and one presented secondary amenorrhea alone. Some findings of Turner syndrome were observed even among patients with ambiguous genitalia. None presented gonadal malignancy. One patient underwent surgical correction for genital ambiguity and subsequent exchange of sex of rearing. Regarding cytogenetics, we did not observe any direct correlation between percentages of cell lines and phenotype.CONCLUSIONS: 45,X/46,XY mosaicism can present with a wide variety of phenotypes resulting from the involvement of different aspects of the individual. All these observations have important implications for early recognition of these patients and their appropriate management.

DNA: Up Close and Personal

2020 ◽  
pp. 133-157
Author(s):  
Alan McHughen
Keyword(s):  
Y Chromosome ◽  
Dna Sequence ◽  
Genetic Information ◽  
Base Sequence ◽  
Gold Mine ◽  
Family Tree ◽  
Health Issues ◽  
Dna Base ◽  
The Individual ◽  
Cheek Swab

We now look at personal genetics and genomics, especially important with the rise of companies willing to analyze your own DNA (for a small fee, of course), giving you the raw genetic information about yourself and your ancestors. Although we previously learned that DNA is “the same” in all species, we now turn to the individual, you, and explore how your DNA base sequence differs from the DNA base sequence of a bacterium, a liverwort, a chimp, and your weird Uncle Jason. This chapter provides the background to appreciate the specific issues related to medical and health issues, and then genealogical studies, coming up in later chapters. For most people, personal genomics testing involves sending a sample of DNA, in the form of spit or a cheek swab, to a lab. What kind of analyses do the labs perform, and what information do they reveal? In addition to full DNA sequence tests, there’s a whole gamut of other DNA tests, including SNP tests, Y-chromosome tests, mtDNA tests, and more. Your DNA base sequence is a gold mine of information unique to you, and it is entirely yours to discover. Whether you are curious about your medical and health genetics, wish to connect with relatives and build a family tree, or are just fascinated at what information your ancestors provided you, these next chapters will help you dig up the hidden secrets of your own genetic heritage.

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.

scholarly journals Highly Variable Genomic Landscape of Endogenous Retroviruses in the C57BL/6J Inbred Strain, Depending on Individual Mouse, Gender, Organ Type, and Organ Location

2017 ◽  
Vol 2017 ◽  
pp. 1-10
Author(s):  
Kang-Hoon Lee ◽  
Debora Lim ◽  
David Greenhalgh ◽  
Kiho Cho
Keyword(s):  
Germ Line ◽  
Inbred Mice ◽  
Leukemia Virus ◽  
Age Groups ◽  
Endogenous Retroviruses ◽  
Tissue Cell ◽  
Genomic Landscape ◽  
Individual Mouse ◽  
Spatial Diversification ◽  
The Individual

Transposable repetitive elements, named the “TREome,” represent ~40% of the mouse genome. We postulate that the germ line genome undergoes temporal and spatial diversification into somatic genomes in conjunction with the TREome activity. C57BL/6J inbred mice were subjected to genomic landscape analyses using a TREome probe from murine leukemia virus-type endogenous retroviruses (MLV-ERVs). None shared the same MLV-ERV landscape within each comparison group: (1) sperm and 18 tissues from one mouse, (2) six brain compartments from two females, (3) spleen and thymus samples from four age groups, (4) three spatial tissue sets from two females, and (5) kidney and liver samples from three females and three males. Interestingly, males had more genomic MLV-ERV copies than females; moreover, only in the males, the kidneys had higher MLV-ERV copies than the livers. Perhaps, the mouse-, gender-, and tissue/cell-dependent MLV-ERV landscapes are linked to the individual-specific and dynamic phenotypes of the C57BL/6J inbred population.

scholarly journals True hermaphroditism associated with microphthalmia

1999 ◽  
pp. 62-65 ◽  
Author(s):  
T Hayashi ◽  
Y Kageyama ◽  
K Ishizaka ◽  
T Tsujii ◽  
H Oshima
Keyword(s):  
Y Chromosome ◽  
X Chromosome ◽  
Inguinal Canal ◽  
Chromosome Analysis ◽  
Interstitial Deletion ◽  
Seminiferous Tubules ◽  
Left Testis ◽  
Primordial Follicles ◽  
The Right ◽  
Hormonal Condition

A 4-year-old boy with an undescending left testis, penoscrotal hypospadia and bilateral microphthalmia was admitted to our hospital. Chromosome analysis revealed a karyotype of 46, XX del(x)(p2 2,31) and the sex-determining region of the Y chromosome (SRY) was negative. The right testis was located in the scrotum and a left cystic ovary-like gonad, a salpinx and a unicorn uterus were found in the left inguinal canal. Histologically the gonad was an ovotestis in which primordial follicles covered infantile seminiferous tubules. Microphthalmia is observed in some congenital syndromes caused by interstitial deletion of the X chromosome. This case suggested that the short arm of the X chromosome was involved in the differentiation of the gonad. Very closely located follicles and infantile seminiferous tubules indicated that induction of meiosis in the fetus was controlled by the local microenvironment in follicles and seminiferous tubules, and not by the systemic hormonal condition.

scholarly journals Cryopreserved ovarian tissues can maintain a long-term function after heterotopic autotransplantation in rat

Reproduction ◽  
2009 ◽  
Vol 138 (3) ◽  
pp. 519-525 ◽  
Author(s):  
Xiaohui Deng ◽  
Hua Zheng ◽  
Xuan Yu ◽  
Hongling Yu ◽  
Chengmei Zhang ◽  
...  
Keyword(s):  
Reproductive Tract ◽  
Ovarian Function ◽  
Hormone Secretion ◽  
Endocrine Function ◽  
Heterotopic Transplantation ◽  
Adult Rats ◽  
Primordial Follicles ◽  
Time Points ◽  
Adult Rat

The functional longevity of cryopreserved ovarian grafts is one of the most challenging questions regarding ovarian transplantation at present. This study used a rat ovarian grafting model to investigate whether ovarian tissues from adult rats, which had been cryopreserved by vitrification and followed by heterotopic transplantation, could establish long-term hormone secretion and follicle development. Fresh and cryopreserved ovarian tissues were autologously transplanted under the kidney capsule. One-third of the animals in each group (sham-operated, fresh autografts, cryopreserved autografts, or castrated) were killed 5, 8, or 10 months after transplantation. Vaginal cytology, serum estradiol (E2), progesterone, and the morphology of the reproductive tract were used to assess ovarian function. Both fresh and cryopreserved ovarian grafts survived well in all the animal models with comparable proportion of follicles at each stage of folliculogenesis at all three time points. The serum E2 and progesterone concentrations in the groups with fresh or cryopreserved grafts remained comparable with those in sham-operated controls at all investigated time points. However, a loss of grafts and primordial follicles following heterotopic transplantation was noted. In conclusion, the heterotopic autotransplantation of vitrified ovarian tissues from adult rat without vascular anastomosis can maintain long-term ovarian function and exert endocrine function in target organs, in spite of the reduction in follicle pool.

Non-invasive genetic sexing technique for analysis of short-beaked echidna (Tachyglossus aculeatus) populations

2019 ◽  
Vol 31 (7) ◽  
pp. 1289
Author(s):  
Tahlia Perry ◽  
Deborah Toledo-Flores ◽  
Wan X. Kang ◽  
Arthur Ferguson ◽  
Belinda Laming ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Sex Chromosomes ◽  
External Genitalia ◽  
Hair Follicles ◽  
Wild Populations ◽  
Genetic Sexing ◽  
Captive Management ◽  
Non Invasive ◽  
Polymerase Chain ◽  
Male Specific

Identifying male and female echidnas is challenging due to the lack of external genitalia or any other differing morphological features. This limits studies of wild populations and is a major problem for echidna captive management and breeding. Non-invasive genetic approaches to determine sex minimise the need for handling animals and are used extensively in other mammals. However, currently available approaches cannot be applied to monotremes because their sex chromosomes share no homology with sex chromosomes in other mammals. In this study we used recently identified X and Y chromosome-specific sequences to establish a non-invasive polymerase chain reaction-based technique to determine the sex of echidnas. Genomic DNA was extracted from echidna hair follicles followed by amplification of two Y chromosome (male-specific) genes (mediator complex subunit 26 Y-gametolog (CRSPY) and anti-Müllerian hormone Y-gametolog (AMHY)) and the X chromosome gene (anti-Müllerian hormone X-gametolog (AMHX)). Using this technique, we identified the sex of 10 juvenile echidnas born at Perth Zoo, revealing that eight of the 10 echidnas were female. Future use of the genetic sexing technique in echidnas will inform captive management, continue breeding success and can be used to investigate sex ratios and population dynamics in wild populations.

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