The relationship between preimplantation morphokinetics of human embryos and sex chromosome pattern

2018 ◽  
Vol 18 (4) ◽  
pp. 385-389 ◽  
Author(s):  
Ali Zeyad ◽  
Bandar Al-Abdulkareem ◽  
Mohamad Eid Hammadeh
Genetics ◽  
1998 ◽  
Vol 149 (1) ◽  
pp. 143-155 ◽  
Author(s):  
Bruce D McKee ◽  
Kathy Wilhelm ◽  
Cynthia Merrill ◽  
Xiao-jia Ren

Abstract In Drosophila melanogaster, deletions of the pericentromeric X heterochromatin cause X-Y nondisjunction, reduced male fertility and distorted sperm recovery ratios (meiotic drive) in combination with a normal Y chromosome and interact with Y-autosome translocations (T(Y;A)) to cause complete male sterility. The pericentromeric heterochromatin has been shown to contain the male-specific X-Y meiotic pairing sites, which consist mostly of a 240-bp repeated sequence in the intergenic spacers (IGS) of the rDNA repeats. The experiments in this paper address the relationship between X-Y pairing failure and the meiotic drive and sterility effects of Xh deletions. X-linked insertions either of complete rDNA repeats or of rDNA fragments that contain the IGS were found to suppress X-Y nondisjunction and meiotic drive in Xh−/Y males, and to restore fertility to Xh−/T(Y;A) males for eight of nine tested Y-autosome translocations. rDNA fragments devoid of IGS repeats proved incapable of suppressing either meiotic drive or chromosomal sterility. These results indicate that the various spermatogenic disruptions associated with X heterochromatic deletions are all consequences of X-Y pairing failure. We interpret these findings in terms of a novel model in which misalignment of chromosomes triggers a checkpoint that acts by disabling the spermatids that derive from affected spermatocytes.


2020 ◽  
Vol 87 (9) ◽  
pp. S336
Author(s):  
Allysa Warling ◽  
Kathleen Wilson ◽  
Ethan Whitman ◽  
Siyuan Liu ◽  
Liv S. Clasen ◽  
...  

2013 ◽  
Vol 75 (9) ◽  
pp. 692-697 ◽  
Author(s):  
Julie C. Brown

In this two-part activity, high school biology students examine human karyotyping, sex-chromosome-linked disorders, and the relationship between biological sex and gender. Through interactive simulations and a structured discussion lab, students create a human karyotype and diagnose chromosomal disorders in hypothetical patients, as well as formulate a scientifically based argument distinguishing biological sex from gender. This activity reinforces biology concepts such as DNA structure and function, meiosis, and the inheritance of traits. In their arguments, students integrate prior knowledge with science content. This lesson connects the world of science with issues important in their own lives.


1999 ◽  
Vol 77 (4) ◽  
pp. 624-631 ◽  
Author(s):  
Luciana B Lourenço ◽  
Shirlei M Recco-Pimentel ◽  
Adão J Cardoso

Cytogenetic analyses were performed on specimens from two populations of Physalaemus petersi from three locations in Brazilian West Amazon. Chromosomes from the testis and intestinal epithelium were stained conventionally with Giemsa or C-banded. All animals studied showed a full chromosome complement of 2n = 22, but two distinct karyotypes (I and II) were detected among specimens from one of the populations. Karyotype I specimens showed a XX/XY sex chromosome system and C-band polymorphism. Bivalent chromosomes with heterozygous C-banding frequently lacked chiasmata in the region of this heterochromatin during the first meiotic division. The less common karyotype (II) had a heteromorphic pair of chromosomes, but the relationship of this pair to sex determination could not be elucidated because of the absence of female specimens. Karyotype II was observed in males whose call differed from those of other males in the same population, suggesting that a reevaluation of the taxon P. petersi may be necessary. These results suggest that, in these populations, karyological evolution occurs faster than anatomical evolution.


2021 ◽  
Author(s):  
Gabriel AB Marais ◽  
Jean-Francois Lemaitre

In animals, males and females can display markedly different longevity (also called sex gap in longevity, SGLs). Recent work has revealed that sex chromosomes contribute to establishing these SGLs. X-hemizygosity and toxicity of the Y chromosomes are two mechanisms that have been suggested to reduce male longevity (Z-hemizygosity and W toxicity in females in ZW systems). In plants, SGLs are known to exist but the role of sex chromosomes remains to be established. Here, by using adult sex ratio as a proxy for measuring SGLs, we explored the relationship between sex chromosome and SGLs across 43 plant species. Based on the knowledge recently accumulated in animals, we specifically asked whether: (i) species with XY systems tend to have female-biased sex ratios (reduced male longevity) and species with ZW ones tend to have male-biased sex ratios (reduced female longevity), and (ii) this patterns was stronger in heteromorphic systems compared to homomorphic ones. Our results tend to support these predictions although we lack statistical power because of a small number of ZW systems and the absence of any heteromorphic ZW system in the dataset. We discuss the implications of these findings, which we hope will stimulate further research on sex-differences in lifespan and ageing across plants.


1973 ◽  
Vol 122 (566) ◽  
pp. 79-81 ◽  
Author(s):  
Katherine A. Halmi ◽  
Constantine Rigas

Lindsten (5), Mellbin (7), and Pitts and Guze (8) have described a total of three cases of anorexia nervosa occurring in conjunction with gonosomal aneuploidy (Turner's syndrome or gonadal dysgenesis with XO sex chromosome pattern). The incidence of both conditions is low, and the small likelihood of their concurrent appearance in one individual by chance can be estimated from the following figures. According to Maclean et al. (6), the XO chromosome abnormality occurs in four out of 10,000 live births. Baikie et al. (1) have found that the incidence of the XO gonosome pattern in the general population is not significantly different from that at birth. Anorexia nervosa has an average annual incidence of 45 (Theander (9)) or 61 (Kidd and Wood (4)) cases per 10,000,000 people. On the assumption that the two conditions are independent, the probability of their occurring together would therefore be 0.18 to 0.24/100,000,000. Since the incidence data for the XO anomaly and for anorexia nervosa were obtained from different populations, it must be recognized that these figures are only order of magnitude estimates. Nevertheless, we considered it of interest to examine the available case records of anorexia nervosa patients seen at the University of Iowa Hospitals from 1920 to 1972 for Turner's syndrome and other anomalies of the urogenital tract.


1989 ◽  
Vol 54 (3) ◽  
pp. 205-212 ◽  
Author(s):  
Cayetano González ◽  
José Casal ◽  
Pedro Ripoll

SummaryWe have studied, using light microscopy, the relationship between chromosome content and nuclear diameter in early spermatids of males carrying different combinations of wild-type and compound chromosomes in Drosophila melanogaster. By using these genotypes we have been able to observe spermatid nuclei bearing various numbers of chromosomes ranging from only one sex chromosome and no major autosomes to almost twice the normal chromosome complement. We have found that variations in the chromosome content are accompanied by increasing the variance in early spermatid nuclear diameter; the more gametic classes produced, the higher the variance of nuclear diameters. These results indicate that measuring nuclear diameters in early spermatids represents a useful way to estimate the levels of meiotic non-disjunction and thereby to improve the characterization of lethal or male sterile mutants in which analysis of meiotic chrosome non-disjunction cannot be achieved by conventional genetic methods.


2019 ◽  
Vol 19 (2) ◽  
pp. 109-115 ◽  
Author(s):  
Vito Angelo Giagulli ◽  
Beatrice Campone ◽  
Marco Castellana ◽  
Ciro Salzano ◽  
Alessandra Daphne Fisher ◽  
...  

Background and objective: Klinefelter Syndrome (KS) is the most common sex chromosome aneuploidy (47, XXY) and cause of male hypergonadotropic hypogonadism. It is characterized by an extreme clinical heterogeneity in presentation, including infertility, hypogonadism, language delay, metabolic comorbidities, and neurocognitive and psychiatric disorders. Since testosterone is known to have organizational, neurotrophic and neuroprotective effects on brain, the condition of primary hypogonadism could play a role. Moreover, given that KS subjects have an additional X, genes on the extra-chromosome could also exert a significant impact. The aim of this narrative review is to analyze the available literature on the relationship between KS and neuropsychiatric disorders. Methods: To extend to the best of published literature on the topic, appropriate keywords and MeSH terms were identified and searched in Pubmed. Finally, references of original articles and reviews were examined. Results: Both morphological and functional studies focusing on the brain showed that there were important differences in brain structure of KS subjects. Different psychiatric disorders such as Schizophrenia, autism, attention deficit hyperactivity disorder, depression and anxiety were frequently reported in KS patients according to a broad spectrum of phenotypes. T supplementation (TRT) was not able to improve the psychotic disorders in KS men with or without overt hypogonadism. Conclusion: Although the risk of psychosis, depression and autism is increased in subjects with KS, no definitive evidence has been found in studies aiming at identifying the relationship between aneuploidy, T deficit and the risk of psychiatric and cognitive disorders in subjects affected by KS.


Societies ◽  
2022 ◽  
Vol 12 (1) ◽  
pp. 7
Author(s):  
Luís Gouveia ◽  
Catarina Delaunay

This article uses data gathered from a study conducted in Portugal to examine the (plural and composite) conceptions that doctors, embryologists, and beneficiaries of Assisted Reproductive Technology (ART) have of the in vitro human embryo. Taking the sociology of engagements, developed by Thévenot, as its theoretical lens, the article draws on a total of 69 interviews with ART patients to analyse the plurality of fluid meanings produced about this biological entity, whose status is neither static nor universal. ART beneficiaries are likely to produce plural conceptions of the lab-generated embryo within the framework of different regimes of engagement, understood as cognitive and evaluative formats. These various pragmatic regimes, in turn, entail distinct emotional investments. When speaking about their relationship with embryos, beneficiaries therefore express plural emotional experiences, which are articulated using terms such as affection, love, detachment, loss, frustration, hope, mourning, and anguish. Using the theoretical framework of the sociology of engagements, we propose an approach that enables us to produce a detailed record of the connections between the cognitive, evaluative, and emotional dimensions in beneficiaries’ relationship with—and decision-making processes about—the embryos, accounting for the plasticity of emotional states linked to the (re)configuration of attributed meanings.


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