Inhibition of DMRTA2 impairs human female germline development in xeno-grafted ovaries

2014 ◽  
Author(s):  
Marine Poulain ◽  
Sophie Tourpin ◽  
Vincent Muczynski ◽  
Sebastien Messiaen ◽  
Delphine Moison ◽  
...  
Keyword(s):  
Human Female ◽  
Germline Development ◽  
Female Germline

scholarly journals The Mammalian Ovary from Genesis to Revelation

2009 ◽  
Vol 30 (6) ◽  
pp. 624-712 ◽  
Author(s):  
Mark A. Edson ◽  
Ankur K. Nagaraja ◽  
Martin M. Matzuk
Keyword(s):  
Germ Cells ◽  
Ovarian Function ◽  
Primordial Germ Cells ◽  
Bioactive Molecules ◽  
Sex Characteristics ◽  
Germline Development ◽  
Peptide Growth Factors ◽  
Development And Differentiation ◽  
Common Destiny ◽  
Female Germline

Abstract Two major functions of the mammalian ovary are the production of germ cells (oocytes), which allow continuation of the species, and the generation of bioactive molecules, primarily steroids (mainly estrogens and progestins) and peptide growth factors, which are critical for ovarian function, regulation of the hypothalamic-pituitary-ovarian axis, and development of secondary sex characteristics. The female germline is created during embryogenesis when the precursors of primordial germ cells differentiate from somatic lineages of the embryo and take a unique route to reach the urogenital ridge. This undifferentiated gonad will differentiate along a female pathway, and the newly formed oocytes will proliferate and subsequently enter meiosis. At this point, the oocyte has two alternative fates: die, a common destiny of millions of oocytes, or be fertilized, a fate of at most approximately 100 oocytes, depending on the species. At every step from germline development and ovary formation to oogenesis and ovarian development and differentiation, there are coordinated interactions of hundreds of proteins and small RNAs. These studies have helped reproductive biologists to understand not only the normal functioning of the ovary but also the pathophysiology and genetics of diseases such as infertility and ovarian cancer. Over the last two decades, parallel progress has been made in the assisted reproductive technology clinic including better hormonal preparations, prenatal genetic testing, and optimal oocyte and embryo analysis and cryopreservation. Clearly, we have learned much about the mammalian ovary and manipulating its most important cargo, the oocyte, since the birth of Louise Brown over 30 yr ago.

A critical evaluation of ovarian tissue cryopreservation and grafting as a strategy for preserving the human female germline

1997 ◽  
Vol 6 (3) ◽  
pp. 163-183 ◽  
Author(s):  
JM Shaw ◽  
KJ Dawson ◽  
AO Trounson
Keyword(s):  
Young Women ◽  
Ovarian Tissue ◽  
Critical Evaluation ◽  
Systemic Circulation ◽  
Ovarian Tissue Cryopreservation ◽  
Malignant Cells ◽  
Human Female ◽  
Embryo Freezing ◽  
Female Germline ◽  
Tissue Cryopreservation

Ovarian tissue freezing has been used successfully in animals and it has recently begun to be offered clinically to young women who have medical conditions with a high risk of sterility. Although no frozen human ovarian grafts have yet been returned to the donor and resulted in a pregnancy, there are many indications that this procedure should be feasible. Although live young have been derived from frozen grafts in several species, research should aim to make further improvements to the cryopreservation and grafting procedures to optimize follicle survival, and hence minimize the amount of tissue that needs to be collected, stored and returned. Ovarian tissue freezing, particular if used in combination with egg and embryo freezing, should allow a patient to safeguard their chance of becoming a parent later (Table 1). In cases where the patient has a systemic cancer or infection and malignant cells or viruses may be present in the systemic circulation and the gonadal tissue, ovarian tissue could be collected and frozen, but grafting is not currently recommended (Table 3).

scholarly journals Implications and Current Limitations of Oogenesis from Female Germline or Oogonial Stem Cells in Adult Mammalian Ovaries

Cells ◽  
2019 ◽  
Vol 8 (2) ◽  
pp. 93 ◽  
Author(s):  
Jessica Martin ◽  
Dori Woods ◽  
Jonathan Tilly
Keyword(s):  
Stem Cells ◽  
Adult Stem Cells ◽  
Ovarian Function ◽  
Mammalian Species ◽  
Large Body ◽  
The Body ◽  
Human Female ◽  
Female Germline

A now large body of evidence supports the existence of mitotically active germ cells in postnatal ovaries of diverse mammalian species, including humans. This opens the possibility that adult stem cells naturally committed to a germline fate could be leveraged for the production of female gametes outside of the body. The functional properties of these cells, referred to as female germline or oogonial stem cells (OSCs), in ovaries of women have recently been tested in various ways, including a very recent investigation of the differentiation capacity of human OSCs at a single cell level. The exciting insights gained from these experiments, coupled with other data derived from intraovarian transplantation and genetic tracing analyses in animal models that have established the capacity of OSCs to generate healthy eggs, embryos and offspring, should drive constructive discussions in this relatively new field to further exploring the value of these cells to the study, and potential management, of human female fertility. Here, we provide a brief history of the discovery and characterization of OSCs in mammals, as well as of the in-vivo significance of postnatal oogenesis to adult ovarian function. We then highlight several key observations made recently on the biology of OSCs, and integrate this information into a broader discussion of the potential value and limitations of these adult stem cells to achieving a greater understanding of human female gametogenesis in vivo and in vitro.

scholarly journals Characterization of germline development and identification of genes associated with germline specification in pineapple

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Lihua Zhao ◽  
Liping Liu ◽  
Yanhui Liu ◽  
Xianying Dou ◽  
Hanyang Cai ◽  
...  
Keyword(s):  
Plant Species ◽  
Mother Cell ◽  
Expression Patterns ◽  
Germline Development ◽  
Regulatory Pathways ◽  
Male Germline ◽  
Agricultural Applications ◽  
Related Plant ◽  
Female Gametophyte Development ◽  
Female Germline

AbstractUnderstanding germline specification in plants could be advantageous for agricultural applications. In recent decades, substantial efforts have been made to understand germline specification in several plant species, including Arabidopsis, rice, and maize. However, our knowledge of germline specification in many agronomically important plant species remains obscure. Here, we characterized the female germline specification and subsequent female gametophyte development in pineapple using callose staining, cytological, and whole-mount immunolocalization analyses. We also determined the male germline specification and gametophyte developmental timeline and observed male meiotic behavior using chromosome spreading assays. Furthermore, we identified 229 genes that are preferentially expressed at the megaspore mother cell (MMC) stage during ovule development and 478 genes that are preferentially expressed at the pollen mother cell (PMC) stage of anther development using comparative transcriptomic analysis. The biological functions, associated regulatory pathways and expression patterns of these genes were also analyzed. Our study provides a convenient cytological reference for exploring pineapple germline development and a molecular basis for the future functional analysis of germline specification in related plant species.

Oogenesis in Crustaceans: Ultrastructural Aspects and Selected Regulating Factors

2020 ◽  
pp. 29-59
Author(s):  
Mariusz K. Jaglarz ◽  
Szczepan M. Bilinski
Keyword(s):  
Great Majority ◽  
Follicle Cells ◽  
Nurse Cells ◽  
Germline Development ◽  
Cellular Processes ◽  
Ultrastructural Studies ◽  
Large Numbers ◽  
Oocyte Cytoplasm ◽  
Germline Cells ◽  
Female Germline

This chapter explores ultrastructural aspects of crustacean oogenesis. It focuses on various cellular processes associated with female germline development in selected crustacean groups. Oogenesis in crustaceans comprises four stages: proliferation of germline cells, previtellogenesis, vitellogenesis, and formation of egg coverings. The greater part of oogenesis occurs in the ovary. In Crustacea, two structurally and functionally distinct types of ovary are recognized: panoistic and meroistic. In panoistic ovaries, all germline cells differentiate into oocytes, and this type of ovarian organization occurs in a great majority of crustaceans, including Malacostraca. In contrast, in the meroistic ovaries, oogonial cells are connected by intercellular bridges and form characteristic linear cysts. Within each cyst, only one cell becomes an oocyte, and the remaining cells differentiate into nurse cells. Meroistic ovaries are typical for Branchiopoda and Ostracoda: Podocopida. Ultrastructural studies reveal that the nucleus and cytoplasmic organelles of the oocyte are highly synthetically active in the panoistic ovary, whereas in the meroistic type, oocyte development is supported, to some extent, by accompanying nurse cells. During previtellogenesis, oocytes accumulate large numbers of various organelles, e.g. ribosomes, mitochondria, and cisternae of endoplasmic reticulum. The oocyte cytoplasm also contains characteristic disc-shaped bodies and cortical granules. A comparative analysis of the proteinaceous yolk formation in different crustaceans reveals two distinct types of vitellogenesis (autosynthesis and heterosynthesis), and indicates that a mixed type prevails in these arthropods. In most crustacean species, germline cells associate with somatic follicle cells that may fulfill several functions during oogenesis.

scholarly journals The need for high-quality oocyte mitochondria at extreme ploidy dictates germline development

2020 ◽  
Author(s):  
Marco Colnaghi ◽  
Andrew Pomiankowski ◽  
Nick Lane
Keyword(s):  
De Novo ◽  
Genetic Diseases ◽  
Primordial Germ Cells ◽  
Evolutionary Model ◽  
Cell Loss ◽  
Human Populations ◽  
Mitochondrial Mutations ◽  
Germline Development ◽  
High Quality ◽  
Female Germline

ABSTRACTSelection against severe mitochondrial mutations is facilitated by germline processes, lowering the risk of genetic diseases. How selection works is disputed: experimental data are conflicting and previous modelling work has not clarified the issues. Here we develop computational and evolutionary models that compare the outcome of selection at the level of individuals, cells and mitochondria. Using realistic de novo mutation rates and germline development parameters, the evolutionary model accurately predicts the observed prevalence of mitochondrial mutations and diseases in human populations. We show that biogenesis of high-quality mitochondria at extreme ploidy in mature oocytes can only be achieved under realistic parameters through selective pooling of mitochondria into the Balbiani body. The principal mechanisms debated in the literature, bottlenecks and follicular atresia, fail to predict these clinical data, because neither process effectively eliminates mitochondrial mutations under realistic conditions. Our findings explain the major features of female germline architecture, notably the longstanding paradox of over-proliferation of primordial germ cells followed by massive germ cell loss. The near-universality of these processes across animal taxa makes sense in light of the need to maintain mitochondrial quality at extreme ploidy in mature oocytes, in the absence of sex and recombination.

scholarly journals An interview with Swathi Arur

Development ◽  
2021 ◽  
Vol 148 (2) ◽  
pp. dev199366
Author(s):  
Alex Eve
Keyword(s):  
American Association ◽  
Associate Professor ◽  
Cancer Center ◽  
Germline Development ◽  
Faculty Mentor ◽  
C Elegans ◽  
Distinguished Research ◽  
Md Anderson ◽  
Female Germline ◽  
Research Faculty

Swathi Arur is an Associate Professor for the Department of Genetics at the MD Anderson Cancer Center, USA, where she uses multidisciplinary approaches to understand female germline development and fertility. She has received numerous accolades, including the MD Anderson Distinguished Research Faculty Mentor Award in 2017. In 2020, she was elected to the American Association for the Advancement of Science (AAAS). Swathi joined the team at Development as an Academic Editor in 2020, and we met with her over Zoom to hear more about her life, her career and her love for C. elegans.

scholarly journals The need for high-quality oocyte mitochondria at extreme ploidy dictates mammalian germline development

eLife ◽  
2021 ◽  
Vol 10 ◽  
Author(s):  
Marco Colnaghi ◽  
Andrew Pomiankowski ◽  
Nick Lane
Keyword(s):  
De Novo ◽  
Genetic Diseases ◽  
Primordial Germ Cells ◽  
Evolutionary Model ◽  
Mutation Rates ◽  
Human Populations ◽  
Mitochondrial Mutations ◽  
Germline Development ◽  
High Quality ◽  
Female Germline

Selection against deleterious mitochondrial mutations is facilitated by germline processes, lowering the risk of genetic diseases. How selection works is disputed: experimental data are conflicting and previous modelling work has not clarified the issues. Here we develop computational and evolutionary models that compare the outcome of selection at the level of individuals, cells and mitochondria. Using realistic de novo mutation rates and germline development parameters from mouse and humans, the evolutionary model predicts the observed prevalence of mitochondrial mutations and diseases in human populations. We show the importance of organelle-level selection, seen in the selective pooling of mitochondria into the Balbiani body, in achieving high-quality mitochondria at extreme ploidy in mature oocytes. Alternative mechanisms debated in the literature, bottlenecks and follicular atresia, are unlikely to account for the clinical data, because neither process effectively eliminates mitochondrial mutations under realistic conditions. Our findings explain the major features of female germline architecture, notably the longstanding paradox of over-proliferation of primordial germ cells followed by massive loss. The near-universality of these processes across animal taxa makes sense in light of the need to maintain mitochondrial quality at extreme ploidy in mature oocytes, in the absence of sex and recombination.

scholarly journals Dimorphic sperm formation by Sex-lethal

2019 ◽  
Vol 116 (21) ◽  
pp. 10412-10417 ◽  
Author(s):  
Hiroki Sakai ◽  
Hiroyuki Oshima ◽  
Kodai Yuri ◽  
Hiroki Gotoh ◽  
Takaaki Daimon ◽  
...  
Keyword(s):  
Sex Determination ◽  
Germline Development ◽  
Lepidopteran Insect ◽  
Lepidopteran Insects ◽  
Ancestral Function ◽  
Sperm Migration ◽  
Apyrene Sperm ◽  
Eupyrene Sperm ◽  
Sex Lethal ◽  
Female Germline

Sex is determined by diverse mechanisms and master sex-determination genes are highly divergent, even among closely related species. Therefore, it is possible that homologs of master sex-determination genes might have alternative functions in different species. Herein, we focused on Sex-lethal (Sxl), which is the master sex-determination gene in Drosophila melanogaster and is necessary for female germline development. It has been widely shown that the sex-determination function of Sxl in Drosophilidae species is not conserved in other insects of different orders. We investigated the function of Sxl in the lepidopteran insect Bombyx mori. In lepidopteran insects (moths and butterflies), spermatogenesis results in two different types of sperm: nucleated fertile eupyrene sperm and anucleate nonfertile parasperm, also known as apyrene sperm. Genetic analyses using Sxl mutants revealed that the gene is indispensable for proper morphogenesis of apyrene sperm. Similarly, our analyses using Sxl mutants clearly demonstrate that apyrene sperm are necessary for eupyrene sperm migration from the bursa copulatrix to the spermatheca. Therefore, apyrene sperm is necessary for successful fertilization of eupyrene sperm in B. mori. Although Sxl is essential for oogenesis in D. melanogaster, it also plays important roles in spermatogenesis in B. mori. Therefore, the ancestral function of Sxl might be related to germline development.

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