Infertilité

De manière générale, l'infertilité est la difficulté à donner la vie. Ceci s'applique aussi bien à un terrain sur lequel toute tentative de culture agricole est infructueuse, qu'à un animal ou un couple d'êtres humains éprouvant des difficultés à avoir une descendance. Infertilité animale Pour les animaux c'est l'impossibilité partielle et souvent transitoire de la reproduction, par le mâle ou par la femelle ou les deux. Infertilité humaine Il faut distinguer l'infertilité et la stérilité humaines. La stérilité est l'incapacité irréversible de concevoir naturellement, de porter ou d'accoucher un enfant sain. Il y a plusieurs raisons pour un couple de ne pas être capable de concevoir sans avoir recours à un soutien médical. Le terme d'infertilité est appliqué aux couples ne parvenant pas à avoir un enfant après un ou deux ans de rapports sexuels réguliers et non-protégés, ce qui n'implique pas forcément l'impossibilité de fécondation à plus long terme.

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Fécondation in vitro

vignette|Injection intracytoplasmique de spermatozoïde à l'aide d'une pipette dans un ovule retenu par une pipette de succion. La fécondation in vitro, en abrégé FIV (prononcé ) est une technique de

Grossesse

La grossesse, appelée aussi gestation humaine, est l'état d'une femme enceinte, c'est-à-dire portant un embryon ou un fœtus humain, en principe au sein de l'utérus, qui est dit gravide. En général,

Fertilité

Pour le sens commun, la fertilité désigne à la fin du la capacité des personnes, des animaux ou des plantes à produire une descendance viable et abondante. Le terme était généralement appliqué aux

BIO-450: Molecular endocrinology

We will define the concept of homeostasis and principles of hormone action and the molecular mechanisms underlying them. Interactions with the environment and pertinent public health issues will be analyzed and preventative strategies will be discussed.

BIO-105: Cellular biology and biochemistry for engineers

Basic course in biochemistry as well as cellular and molecular biology for non-life science students enrolling at the Master or PhD thesis level from various engineering disciplines. It reviews essential notions necessary for a training in biology-related engineering fields.

Human reproduction is regulated by retrotransposons derived from ancient Hominidae-specific viral infections

Julien Paul André Pontis, Yu Tao, Didier Trono

The transcription factor network required for primordial germ cell (PGC) specification is known to diverge in mammals. Here the authors show that hominidae-specific transposable element (TE) LTR5Hs becomes transcriptionally active during PGC specification, and LTR5Hs inactivation abrogates human PGC specification Germ cells are essential to pass DNA from one generation to the next. In human reproduction, germ cell development begins with the specification of primordial germ cells (PGCs) and a failure to specify PGCs leads to human infertility. Recent studies have revealed that the transcription factor network required for PGC specification has diverged in mammals, and this has a significant impact on our understanding of human reproduction. Here, we reveal that the Hominidae-specific Transposable Elements (TEs) LTR5Hs, may serve as TEENhancers (TE Embedded eNhancers) to facilitate PGC specification. LTR5Hs TEENhancers become transcriptionally active during PGC specification both in vivo and in vitro with epigenetic reprogramming leading to increased chromatin accessibility, localized DNA demethylation, enrichment of H3K27ac, and occupation of key hPGC transcription factors. Inactivation of LTR5Hs TEENhancers with KRAB mediated CRISPRi has a significant impact on germ cell specification. In summary, our data reveals the essential role of Hominidae-specific LTR5Hs TEENhancers in human germ cell development.

NATURE PORTFOLIO2022

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Proangiogenic Tie2(+) macrophages infiltrate human and murine endometriotic lesions and dictate their growth in a mouse model of the disease

Daniela Biziato, Michele De Palma, Stefano Ferrari

Endometriosis affects women of reproductive age, causing infertility and pain. Although immune cells are recruited in endometriotic lesions, their role is unclear. Tie2-expressing macrophages (TEMs) have nonredundant functions in promoting angiogenesis and growth of experimental tumors. Here we show that human TEMs infiltrate areas surrounding newly formed endometriotic blood vessels. We set up an ad hoc mouse model in which TEMs, and not Tie2-expressing endothelial cells, are targeted. We transplanted in wild-type recipients bone marrow cells expressing a suicide gene (Herpes simplex virus type 1 thymidine kinase) under the Tie2 promoter/enhancer. TEMs infiltrated endometriotic lesions. TEM depletion by ganciclovir administration arrested the growth of established lesions, without toxicity. Lesion architecture was disrupted, with: i) loss of glandular organization, ii) reduced neovascularization, and iii) activation of caspase 3 in CD31(+) endothelial cells. Thus, TEMs are important for maintaining the viability of newly formed vessels and represent a potential therapeutic target in endometriosis.

2011

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Mutations in the polyglutamylase geneTTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

Hereditary retinal degenerations encompass a group of genetic diseases characterized by extreme clinical variability. Following next-generation sequencing and autozygome-based screening of patients presenting with a peculiar, recessive form of cone-dominated retinopathy, we identified five homozygous variants [p.(Asp594fs), p.(Gln117*), p.(Met712fs), p.(Ile756Phe), and p.(Glu543Lys)] in the polyglutamylase-encoding gene TTLL5, in eight patients from six families. The two male patients carrying truncating TTLL5 variants also displayed a substantial reduction in sperm motility and infertility, whereas those carrying missense changes were fertile. Defects in this polyglutamylase in humans have recently been associated with cone photoreceptor dystrophy, while mouse models carrying truncating mutations in the same gene also display reduced fertility in male animals. We examined the expression levels of TTLL5 in various human tissues and determined that this gene has multiple viable isoforms, being highly expressed in testis and retina. In addition, antibodies against TTLL5 stained the basal body of photoreceptor cells in rat and the centrosome of the spermatozoon flagellum in humans, suggesting a common mechanism of action in these two cell types. Taken together, our data indicate that mutations in TTLL5 delineate a novel, allele-specific syndrome causing defects in two as yet pathogenically unrelated functions, reproduction and vision.

Oxford University Press2016

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