Steroidogenic Factor 1
Fushi Tarazu Transcription Factors
Cholesterol Side-Chain Cleavage Enzyme
Receptors, Cytoplasmic and Nuclear
Steroids
DAX-1 Orphan Nuclear Receptor
Adrenal Cortex
Gonadal Dysgenesis, 46,XY
Steroid 17-alpha-Hydroxylase
Homeodomain Proteins
46, XY Disorders of Sex Development
Leydig Cells
Ventromedial Hypothalamic Nucleus
Adrenal Glands
Aromatase
Eunuchism
Anti-Mullerian Hormone
Leydig Cell Tumor
Transcription Factors
Testis
Ovary
Luteinizing Hormone, beta Subunit
DNA-Binding Proteins
Sex Differentiation
Adrenal Insufficiency
Phosphoproteins
Hypospadias
Promoter Regions, Genetic
Gene Expression Regulation
Molecular Sequence Data
Base Sequence
Progesterone
Pregnenolone
Progesterone Reductase
RNA, Messenger
Transcription, Genetic
Corpus Luteum
Sertoli Cells
Steroid 11-beta-Hydroxylase
Cyclic AMP
Granulosa Cells
17-Hydroxysteroid Dehydrogenases
Adrenocorticotropic Hormone
Binding Sites
Transcriptional Activation
Testosterone
Organ Specificity
Gene Expression Regulation, Developmental
Luteal Cells
Protein Binding
Mutation
Amino Acid Sequence
Chorionic Gonadotropin
Gene Expression
Receptors, LH
Reverse Transcriptase Polymerase Chain Reaction
Cells, Cultured
Luteinizing Hormone
Theca Cells
Transfection
DNA
Mice, Knockout
Molecular and evolutionary analysis of Borrelia burgdorferi 297 circular plasmid-encoded lipoproteins with OspE- and OspF-like leader peptides. (1/405)
We previously described two OspE and three OspF homologs in Borrelia burgdorferi 297 (D. R. Akins, S. F. Porcella, T. G. Popova, D. Shevchenko, S. I. Baker, M. Li, M. V. Norgard, and J. D. Radolf, Mol. Microbiol. 18:507-520, 1995; D. R. Akins, K. W. Bourell, M. J. Caimano, M. V. Norgard, and J. D. Radolf, J. Clin. Investig. 101:2240-2250, 1998). In this study, we characterized four additional lipoproteins with OspE/F-like leader peptides (Elps) and demonstrated that all are encoded on plasmids homologous to cp32 and cp18 from the B31 and N40 strains, respectively. Statistical analysis of sequence similarities using the binary comparison algorithm revealed that the nine lipoproteins from strain 297, as well as the OspE, OspF, and Erp proteins from the N40 and B31 strains, fall into three distinct families. Based upon the observation that these lipoproteins all contain highly conserved leader peptides, we now propose that the ancestors of each of the three families arose from gene fusion events which joined a common N terminus to unrelated proteins. Additionally, further sequence analysis of the strain 297 circular plasmids revealed that rearrangements appear to have played an important role in generating sequence diversity among the members of these three families and that recombinational events in the downstream flanking regions appear to have occurred independently of those within the lipoprotein-encoding genes. The association of hypervariable regions with genes which are differentially expressed and/or subject to immunological pressures suggests that the Lyme disease spirochete has exploited recombinatorial processes to foster its parasitic strategy and enhance its immunoevasiveness. (+info)Hormonal regulation of messenger ribonucleic acid expression for steroidogenic factor-1, steroidogenic acute regulatory protein, and cytochrome P450 side-chain cleavage in bovine luteal cells. (2/405)
To examine hormonal regulation of genes pertinent to luteal steroidogenesis, bovine theca and granulosa cells derived from preovulatory follicles were cultured with various combinations of forskolin and insulin. On Day 8 of culture, progesterone production was measured, and mRNA levels of steroidogenic factor-1 (SF-1), cytochrome P450 side-chain cleavage enzyme (P450scc), and steroidogenic acute regulatory protein (StAR) were determined by means of semiquantitative reverse transcription-polymerase chain reaction. Notably, the combination of forskolin plus insulin stimulated progesterone production in luteinized theca cells. This was probably a result of a synergistic interaction between forskolin and insulin, observed on both StAR and P450scc mRNA levels. However, in luteinized granulosa cells (LGC), forskolin and insulin each independently were able to up-regulate the levels of P450scc and StAR mRNA levels, respectively. Moreover, insulin alone was sufficient to maintain the high steady-state levels of StAR mRNA in LGC. Both insulin and insulin-like growth factor I enhanced StAR gene expression in LGC. SF-1 was constitutively expressed in bovine luteal cells; its amounts did not vary between the two luteal cell types or with hormonal treatments. In summary, this study demonstrates a distinct, cell-type specific regulation of StAR and P450scc mRNA in the two bovine luteal cell types. (+info)Molecular mechanisms of thyroid hormone-stimulated steroidogenesis in mouse leydig tumor cells. Involvement of the steroidogenic acute regulatory (StAR) protein. (3/405)
Using a mouse Leydig tumor cell line, we explored the mechanisms involved in thyroid hormone-induced steroidogenic acute regulatory (StAR) protein gene expression, and steroidogenesis. Triiodothyronine (T3) induced a approximately 3.6-fold increase in the steady-state level of StAR mRNA which paralleled with those of the acute steroid response ( approximately 4.0-fold), as monitored by quantitative reverse transcriptase-polymerase chain reaction assay and progesterone production, respectively. The T3-stimulated progesterone production was effectively inhibited by actinomycin-D or cycloheximide, indicating the requirement of on-going mRNA and protein synthesis. T3 displayed the highest affinity of [125I]iodo-T3 binding and was most potent in stimulating StAR mRNA expression. In accordance, T3 significantly increased testosterone production in primary cultures of adult mouse Leydig cells. The T3 and human chorionic gonadotropin (hCG) effects on StAR expression were similar in magnitude and additive. Cells expressing steroidogenic factor 1 (SF-1) showed marginal elevation of StAR expression, but coordinately increased T3-induced StAR mRNA expression and progesterone levels. In contrast, overexpression of DAX-1 markedly diminished the SF-1 mRNA expression, and concomitantly abolished T3-mediated responses. Noteworthy, T3 augmented the SF-1 mRNA expression while inhibition of the latter by DAX-1 strongly impaired T3 action. Northern hybridization analysis revealed four StAR transcripts which increased 3-6-fold following T3 stimulation. These observations clearly identified a regulatory cascade of thyroid hormone-stimulated StAR expression and steroidogenesis that provides novel insight into the importance of a thyroid-gonadal connection in the hormonal control of Leydig cell steroidogenesis. (+info)Structural and functional abnormalities in the spleen of an mFtz-F1 gene-disrupted mouse. (4/405)
The spleen has two main functions. The first is to provide a proper microenvironment to lymphoid and myeloid cells, whereas the second involves clearance of abnormal erythrocytes. Ad4BP/SF-1, a product of the mammalian FTZ-F1 gene (mFTZ-F1), was originally identified as a steroidogenic, tissue-specific transcription factor. Immunohistochemical examination of the mammalian spleens confirmed the expression of Ad4BP/SF-1 in endothelial cells of the splenic venous sinuses and pulp vein. In mFtz-F1 gene-disrupted (KO) mice, several structural abnormalities were detected in the spleen, including underdevelopment and nonuniform distribution of erythrocytes. Examination of the spleen of KO fetuses showed failure of development of certain tubular structures during embryogenesis. These structures are normally assembled by Ad4BP/SF-1 immunoreactive cells, and most likely form the vascular system during later stages of development. Other structural abnormalities in the spleen of the KO mice included defects in the tissue distribution of type-IV collagen, laminin, c-kit, and vimentin. These morphologic defects in the vascular system were associated with a decrease in the proportion of hematopoietic cells, although differentiation of these cells was not affected significantly. A high number of abnormal red blood cells containing Howell-Jolly bodies were noted in the KO mice, indicating impaired clearance by the splenic vascular system. We also detected the presence of an mRNA-encoding cholesterol side-chain cleavage P450 in the spleen, resembling the findings in steroidogenic tissues such as the gonads and adrenal cortex. The mRNA transcript was not involved in splenic structural defects as it was detected in the spleens of both normal and KO mice, indicating that the regulatory mechanism of the P450 gene in the spleen is different from that in steroidogenic tissues. Our results indicate that a lack of the mFtz-F1 gene in mice is associated with structural and functional abnormalities of the splenic vascular system. (+info)The Drosophila beta FTZ-F1 orphan nuclear receptor provides competence for stage-specific responses to the steroid hormone ecdysone. (5/405)
The acquisition of competence is a key mechanism for refining global signals to distinct spatial and temporal responses. The molecular basis of competence, however, remains poorly understood. Here, we show that the beta FTZ-F1 orphan nuclear receptor functions as a competence factor for stage-specific responses to the steroid hormone ecdysone during Drosophila metamorphosis. beta FTZ-F1 mutants pupariate normally in response to the late larval pulse of ecdysone but display defects in stage-specific responses to the subsequent ecdysone pulse in prepupae. The ecdysone-triggered genetic hierarchy that directs these developmental responses is severely attenuated in beta FTZ-F1 mutants, although ecdysone receptor expression is unaffected. This study define beta FTZ-F1 as an essential competence factor for stage-specific responses to a steroid signal and implicates interplay among nuclear receptors as a mechanism for achieving hormonal competence. (+info)Egr-1 is a downstream effector of GnRH and synergizes by direct interaction with Ptx1 and SF-1 to enhance luteinizing hormone beta gene transcription. (6/405)
Pituitary gonadotropins are critical regulators of gonadal development and function. Expression and secretion of the mature hormones are regulated by gonadotropin-releasing hormone (GnRH), which is itself secreted from the hypothalamus. GnRH stimulation of gonadotropin expression and secretion occurs through the G-protein-linked phospholipase C/inositol triphosphate intracellular signaling pathway, which ultimately leads to protein kinase C (PKC) activation and increased intracellular calcium levels. Transcription factors mediating the effects of GnRH-induced signals on transcription of gonadotropin genes have not yet been identified. Recent studies have identified key factors involved in luteinizing hormone beta (LHbeta) gonadotropin gene transcription: the nuclear receptor SF-1, the bicoid-related homeoprotein Ptx1 (Pitx1), and the immediate-early Egr-1 gene. We now show that GnRH is a potent stimulator of Egr-1, but not Ptx1 or SF-1, expression. Further, Egr-1 activation of the LHbeta promoter is specifically enhanced by PKC, in agreement with a role for Egr-1 in mediating a GnRH effect on transcription. Egr-1 interacts directly with Ptx1 and with SF-1, leading to an enhancement of Ptx1- and SF-1-induced LHbeta transcription. Thus, Egr-1 is a likely transcriptional mediator of GnRH-induced signals for activation of the LHbeta gene. (+info)Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress. (7/405)
Steroidogenic factor 1 (SF-1) is an orphan nuclear receptor that serves as an essential regulator of many hormone-induced genes in the vertebrate endocrine system. The apparent absence of a SF-1 ligand prompted speculation that this receptor is regulated by alternative mechanisms involving signal transduction pathways. Here we show that maximal SF-1-mediated transcription and interaction with general nuclear receptor cofactors depends on phosphorylation of a single serine residue (Ser-203) located in a major activation domain (AF-1) of the protein. Moreover, phosphorylation-dependent SF-1 activation is likely mediated by the mitogen-activated protein kinase (MAPK) signaling pathway. We propose that this single modification of SF-1 and the subsequent recruitment of nuclear receptor cofactors couple extracellular signals to steroid and peptide hormone synthesis, thereby maintaining dynamic homeostatic responses in stress and reproduction. (+info)Activation of luteinizing hormone beta gene by gonadotropin-releasing hormone requires the synergy of early growth response-1 and steroidogenic factor-1. (8/405)
We have previously shown that early growth response (Egr) 1-deficient mice exhibit female infertility, reflecting a luteinizing hormone (LH) beta deficiency. Egr-1 activates the LHbeta gene in vitro through synergy with steroidogenic factor-1 (SF-1), a protein required for gonadotrope function. To test if this synergy is essential for gonadotropin-releasing hormone (GnRH) stimulation of LHbeta, we examined the activity of the LHbeta promoter in the gonadotrope cell line LbetaT2. GnRH markedly stimulated the LHbeta promoter (15-fold). Mutation of either Egr-1 or SF-1 elements within the LHbeta promoter attenuated this stimulation, whereas mutation of both promoter elements abrogated GnRH induction of the LHbeta promoter. Furthermore, GnRH stimulated Egr-1 but not SF-1 expression in LbetaT2 cells. Importantly, overexpression of Egr-1 alone was sufficient to enhance LHbeta expression. Although other Egr proteins are expressed in LbetaT2 cells and are capable of interacting with SF-1, GnRH stimulation of Egr-1 was the most robust. We also found that the nuclear receptor DAX-1, a repressor of SF-1 activity, reduced Egr-1-SF-1 synergy and diminished GnRH stimulation of the LHbeta promoter. We conclude that the synergy between Egr-1 and SF-1 is essential for GnRH stimulation of the LHbeta gene and plays a central role in the dynamic regulation of LHbeta expression. (+info)Steroidogenic Factor 1 (SF-1 or NR5A1) is a nuclear receptor protein that functions as a transcription factor, playing a crucial role in the development and regulation of the endocrine system. It is involved in the differentiation and maintenance of steroidogenic tissues such as the adrenal glands, gonads (ovaries and testes), and the hypothalamus and pituitary glands in the brain.
SF-1 regulates the expression of genes that are essential for steroid hormone biosynthesis, including enzymes involved in the production of cortisol, aldosterone, and sex steroids (androgens, estrogens). Mutations in the SF-1 gene can lead to various disorders related to sexual development, adrenal function, and fertility.
In summary, Steroidogenic Factor 1 is a critical transcription factor that regulates the development and function of steroidogenic tissues and the biosynthesis of steroid hormones.
Fushi Tarazu (FTZ) transcription factors are a family of proteins that regulate gene expression during development in various organisms, including insects and mammals. The name "Fushi Tarazu" comes from the phenotype observed in Drosophila melanogaster (fruit fly) mutants, which have segmentation defects resembling a "broken rosary bead" or "incomplete abdomen."
FTZ transcription factors contain a zinc finger DNA-binding domain and are involved in the regulation of homeotic genes, which control body pattern formation during development. They play crucial roles in establishing and maintaining proper segmentation and regional identity along the anterior-posterior axis of the organism. In mammals, FTZ transcription factors have been implicated in various processes, including neurogenesis, adipogenesis, and energy metabolism.
The Cholesterol Side-Chain Cleavage Enzyme, also known as Steroidogenic Acute Regulatory (StAR) protein or P450scc, is a complex enzymatic system that plays a crucial role in the production of steroid hormones. It is located in the inner mitochondrial membrane of steroid-producing cells, such as those found in the adrenal glands, gonads, and placenta.
The Cholesterol Side-Chain Cleavage Enzyme is responsible for converting cholesterol into pregnenolone, which is the first step in the biosynthesis of all steroid hormones, including cortisol, aldosterone, sex hormones, and vitamin D. This enzymatic complex consists of two components: a flavoprotein called NADPH-cytochrome P450 oxidoreductase, which provides electrons for the reaction, and a cytochrome P450 protein called CYP11A1, which catalyzes the actual cleavage of the cholesterol side chain.
Defects in the Cholesterol Side-Chain Cleavage Enzyme can lead to various genetic disorders, such as congenital lipoid adrenal hyperplasia (CLAH), a rare autosomal recessive disorder characterized by impaired steroidogenesis and accumulation of cholesteryl esters in the adrenal glands and gonads.
Cytoplasmic receptors and nuclear receptors are two types of intracellular receptors that play crucial roles in signal transduction pathways and regulation of gene expression. They are classified based on their location within the cell. Here are the medical definitions for each:
1. Cytoplasmic Receptors: These are a group of intracellular receptors primarily found in the cytoplasm of cells, which bind to specific hormones, growth factors, or other signaling molecules. Upon binding, these receptors undergo conformational changes that allow them to interact with various partners, such as adapter proteins and enzymes, leading to activation of downstream signaling cascades. These pathways ultimately result in modulation of cellular processes like proliferation, differentiation, and apoptosis. Examples of cytoplasmic receptors include receptor tyrosine kinases (RTKs), serine/threonine kinase receptors, and cytokine receptors.
2. Nuclear Receptors: These are a distinct class of intracellular receptors that reside primarily in the nucleus of cells. They bind to specific ligands, such as steroid hormones, thyroid hormones, vitamin D, retinoic acid, and various other lipophilic molecules. Upon binding, nuclear receptors undergo conformational changes that facilitate their interaction with co-regulatory proteins and the DNA. This interaction results in the modulation of gene transcription, ultimately leading to alterations in protein expression and cellular responses. Examples of nuclear receptors include estrogen receptor (ER), androgen receptor (AR), glucocorticoid receptor (GR), thyroid hormone receptor (TR), vitamin D receptor (VDR), and peroxisome proliferator-activated receptors (PPARs).
Both cytoplasmic and nuclear receptors are essential components of cellular communication networks, allowing cells to respond appropriately to extracellular signals and maintain homeostasis. Dysregulation of these receptors has been implicated in various diseases, including cancer, diabetes, and autoimmune disorders.
Steroids, also known as corticosteroids, are a type of hormone that the adrenal gland produces in your body. They have many functions, such as controlling the balance of salt and water in your body and helping to reduce inflammation. Steroids can also be synthetically produced and used as medications to treat a variety of conditions, including allergies, asthma, skin conditions, and autoimmune disorders.
Steroid medications are available in various forms, such as oral pills, injections, creams, and inhalers. They work by mimicking the effects of natural hormones produced by your body, reducing inflammation and suppressing the immune system's response to prevent or reduce symptoms. However, long-term use of steroids can have significant side effects, including weight gain, high blood pressure, osteoporosis, and increased risk of infections.
It is important to note that anabolic steroids are a different class of drugs that are sometimes abused for their muscle-building properties. These steroids are synthetic versions of the male hormone testosterone and can have serious health consequences when taken in large doses or without medical supervision.
DAX-1 (Dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) is a nuclear receptor protein that functions as a transcriptional regulator. It is also known as NR0B1 (Nuclear Receptor Subfamily 0, Group B, Member 1).
DAX-1 plays crucial roles in various developmental processes, including sexual differentiation and adrenal gland development. Mutations in the DAX-1 gene have been associated with X-linked adrenal hypoplasia congenita (AHC), a condition characterized by defective adrenal gland development and primary adrenal insufficiency.
The term "Orphan Nuclear Receptor" refers to a class of nuclear receptors for which no natural ligand has been identified yet. DAX-1 is one such orphan nuclear receptor, as its specific endogenous ligand remains unknown. However, recent studies suggest that steroids and other small molecules might interact with DAX-1 and modulate its activity.
The adrenal cortex is the outer portion of the adrenal gland, which is located on top of the kidneys. It plays a crucial role in producing hormones that are essential for various bodily functions. The adrenal cortex is divided into three zones:
1. Zona glomerulosa: This outermost zone produces mineralocorticoids, primarily aldosterone. Aldosterone helps regulate sodium and potassium balance and thus influences blood pressure by controlling the amount of fluid in the body.
2. Zona fasciculata: The middle layer is responsible for producing glucocorticoids, with cortisol being the most important one. Cortisol regulates metabolism, helps manage stress responses, and has anti-inflammatory properties. It also plays a role in blood sugar regulation and maintaining the body's response to injury and illness.
3. Zona reticularis: The innermost zone produces androgens, primarily dehydroepiandrosterone (DHEA) and its sulfate form (DHEAS). These androgens are weak compared to those produced by the gonads (ovaries or testes), but they can be converted into more potent androgens or estrogens in peripheral tissues.
Disorders related to the adrenal cortex can lead to hormonal imbalances, affecting various bodily functions. Examples include Addison's disease (insufficient adrenal cortical hormone production) and Cushing's syndrome (excessive glucocorticoid levels).
Gonadal dysgenesis, 46,XY is a medical condition where the gonads (testes) fail to develop or function properly in an individual with a 46,XY karyotype (a normal male chromosomal composition). This means that the person has one X and one Y chromosome, but their gonads do not develop into fully functional testes. As a result, the person may have ambiguous genitalia or female external genitalia, and they will typically not produce enough or any male hormones. The condition can also be associated with an increased risk of developing germ cell tumors in the dysgenetic gonads.
The severity of gonadal dysgenesis, 46,XY can vary widely, and it may be accompanied by other developmental abnormalities or syndromes. Treatment typically involves surgical removal of the dysgenetic gonads to reduce the risk of tumor development, as well as hormone replacement therapy to support normal sexual development and reproductive function. The underlying cause of gonadal dysgenesis, 46,XY is not always known, but it can be associated with genetic mutations or chromosomal abnormalities.
Steroid 17-alpha-hydroxylase, also known as CYP17A1, is a cytochrome P450 enzyme that plays a crucial role in steroid hormone biosynthesis. It is located in the endoplasmic reticulum of cells in the adrenal glands and gonads. This enzyme catalyzes the 17-alpha-hydroxylation and subsequent lyase cleavage of pregnenolone and progesterone, converting them into dehydroepiandrosterone (DHEA) and androstenedione, respectively. These steroid intermediates are essential for the biosynthesis of both glucocorticoids and sex steroids, including cortisol, aldosterone, estrogens, and testosterone.
Defects in the CYP17A1 gene can lead to several disorders, such as congenital adrenal hyperplasia (CAH) due to 17-alpha-hydroxylase deficiency, which is characterized by decreased production of cortisol and sex steroids and increased mineralocorticoid levels. This condition results in sexual infantilism, electrolyte imbalances, and hypertension.
Homeodomain proteins are a group of transcription factors that play crucial roles in the development and differentiation of cells in animals and plants. They are characterized by the presence of a highly conserved DNA-binding domain called the homeodomain, which is typically about 60 amino acids long. The homeodomain consists of three helices, with the third helix responsible for recognizing and binding to specific DNA sequences.
Homeodomain proteins are involved in regulating gene expression during embryonic development, tissue maintenance, and organismal growth. They can act as activators or repressors of transcription, depending on the context and the presence of cofactors. Mutations in homeodomain proteins have been associated with various human diseases, including cancer, congenital abnormalities, and neurological disorders.
Some examples of homeodomain proteins include PAX6, which is essential for eye development, HOX genes, which are involved in body patterning, and NANOG, which plays a role in maintaining pluripotency in stem cells.
Testicular hormones, also known as androgens, are a type of sex hormone primarily produced in the testes of males. The most important and well-known androgen is testosterone, which plays a crucial role in the development of male reproductive system and secondary sexual characteristics. Testosterone is responsible for the growth and maintenance of male sex organs, such as the testes and prostate, and it also promotes the development of secondary sexual characteristics like facial hair, deep voice, and muscle mass.
Testicular hormones are produced and regulated by a feedback system involving the hypothalamus and pituitary gland in the brain. The hypothalamus produces gonadotropin-releasing hormone (GnRH), which stimulates the pituitary gland to release follicle-stimulating hormone (FSH) and luteinizing hormone (LH). LH stimulates the testes to produce testosterone, while FSH works together with testosterone to promote sperm production.
In addition to their role in male sexual development and function, testicular hormones also have important effects on other bodily functions, such as bone density, muscle mass, red blood cell production, mood, and cognitive function.
'46, XY Disorders of Sex Development' (DSD) is a term used to describe conditions in which individuals are born with chromosomes, gonads, or genitals that do not fit typical definitions of male or female. In these cases, the individual has 46 chromosomes, including one X and one Y chromosome (46, XY), which would typically result in the development of male characteristics. However, for various reasons, the sexual differentiation process may be disrupted, leading to atypical development of the internal and/or external sex organs.
There are several possible causes of 46, XY DSD, including genetic mutations, hormonal imbalances, or anatomical abnormalities. These conditions can range from mild to severe in terms of their impact on physical health and sexual function, and they may also have psychological and social implications.
Examples of 46, XY DSD include complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), and disorders of gonadal development such as Swyer syndrome. Treatment for 46, XY DSD may involve surgical intervention, hormone replacement therapy, and/or psychological support.
Leydig cells, also known as interstitial cells of Leydig or interstitial cell-stroma, are cells in the testes that produce and release testosterone and other androgens into the bloodstream. They are located in the seminiferous tubules of the testis, near the blood vessels, and are named after Franz Leydig, the German physiologist who discovered them in 1850.
Leydig cells contain cholesterol esters, which serve as precursors for the synthesis of testosterone. They respond to luteinizing hormone (LH) released by the anterior pituitary gland, which stimulates the production and release of testosterone. Testosterone is essential for the development and maintenance of male secondary sexual characteristics, such as facial hair, deep voice, and muscle mass. It also plays a role in sperm production and bone density.
In addition to their endocrine function, Leydig cells have been shown to have non-hormonal functions, including phagocytosis, antigen presentation, and immune regulation. However, these functions are not as well understood as their hormonal roles.
The ventromedial hypothalamic nucleus (VMN) is a collection of neurons located in the ventromedial region of the hypothalamus, a part of the brain that regulates various autonomic and endocrine functions. The VMN plays an essential role in regulating several physiological processes, including feeding behavior, energy balance, and glucose homeostasis. It contains neurons that are sensitive to changes in nutrient status, such as leptin and insulin levels, and helps to integrate this information with other signals to modulate food intake and energy expenditure. Additionally, the VMN has been implicated in the regulation of various emotional and motivational states, including anxiety, fear, and reward processing.
The adrenal glands are a pair of endocrine glands that are located on top of the kidneys. Each gland has two parts: the outer cortex and the inner medulla. The adrenal cortex produces hormones such as cortisol, aldosterone, and androgens, which regulate metabolism, blood pressure, and other vital functions. The adrenal medulla produces catecholamines, including epinephrine (adrenaline) and norepinephrine (noradrenaline), which help the body respond to stress by increasing heart rate, blood pressure, and alertness.
Aromatase is a enzyme that belongs to the cytochrome P450 superfamily, and it is responsible for converting androgens into estrogens through a process called aromatization. This enzyme plays a crucial role in the steroid hormone biosynthesis pathway, particularly in females where it is primarily expressed in adipose tissue, ovaries, brain, and breast tissue.
Aromatase inhibitors are used as a treatment for estrogen receptor-positive breast cancer in postmenopausal women, as they work by blocking the activity of aromatase and reducing the levels of circulating estrogens in the body.
Eunuchism is a state of being a eunuch, which is a person who has had their gonads (testicles or ovaries) removed or damaged, typically as a castrated male. Historically, eunuchs were often employed in royal households and religious institutions due to their perceived lack of sexual desire and potential for loyalty. In modern medical terms, eunuchism may also refer to a condition where a person is born with underdeveloped or absent gonads, which can result in reduced sex hormone production and infertility.
Anti-Mullerian Hormone (AMH) is a glycoprotein hormone that belongs to the transforming growth factor-beta (TGF-β) family. It is primarily produced by the granulosa cells of developing follicles in the ovaries of females. AMH plays an essential role in female reproductive physiology, as it inhibits the recruitment and further development of primordial follicles, thereby regulating the size of the primordial follicle pool and the onset of puberty.
AMH levels are often used as a biomarker for ovarian reserve assessment in women. High AMH levels indicate a larger ovarian reserve, while low levels suggest a decreased reserve, which may be associated with reduced fertility or an earlier onset of menopause. Additionally, measuring AMH levels can help predict the response to ovarian stimulation during assisted reproductive technologies (ART) such as in vitro fertilization (IVF).
A Leydig cell tumor is a rare type of sex cord-stromal tumor that arises from the Leydig cells (interstitial cells) of the testis in males or ovarian tissue in females. These cells are responsible for producing androgens, particularly testosterone.
Leydig cell tumors can occur at any age but are most common in middle-aged to older men. In women, they are extremely rare and usually found in postmenopausal women. Most Leydig cell tumors are benign (noncancerous), but about 10% can be malignant (cancerous) and have the potential to spread to other parts of the body.
Symptoms of a Leydig cell tumor may include:
* A painless testicular or ovarian mass
* Gynecomastia (enlargement of breast tissue in men) due to increased estrogen production
* Early puberty in children
* Decreased libido and erectile dysfunction in men
* Irregular menstrual cycles in women
Diagnosis is usually made through imaging tests such as ultrasound, CT scan, or MRI, followed by a biopsy to confirm the presence of a Leydig cell tumor. Treatment typically involves surgical removal of the tumor, and additional therapies such as radiation therapy or chemotherapy may be recommended for malignant tumors. Regular follow-up is necessary to monitor for recurrence.
3-Hydroxysteroid dehydrogenases (3-HSDs) are a group of enzymes that play a crucial role in steroid hormone biosynthesis. These enzymes catalyze the conversion of 3-beta-hydroxy steroids to 3-keto steroids, which is an essential step in the production of various steroid hormones, including progesterone, cortisol, aldosterone, and sex hormones such as testosterone and estradiol.
There are several isoforms of 3-HSDs that are expressed in different tissues and have distinct substrate specificities. For instance, 3-HSD type I is primarily found in the ovary and adrenal gland, where it catalyzes the conversion of pregnenolone to progesterone and 17-hydroxyprogesterone to 17-hydroxycortisol. On the other hand, 3-HSD type II is mainly expressed in the testes, adrenal gland, and placenta, where it catalyzes the conversion of dehydroepiandrosterone (DHEA) to androstenedione and androstenedione to testosterone.
Defects in 3-HSDs can lead to various genetic disorders that affect steroid hormone production and metabolism, resulting in a range of clinical manifestations such as adrenal insufficiency, ambiguous genitalia, and sexual development disorders.
Genitalia, also known as the genitals, refer to the reproductive organs located in the pelvic region. In males, these include the penis and testicles, while in females, they consist of the vulva, vagina, clitoris, and ovaries. Genitalia are essential for sexual reproduction and can also be associated with various medical conditions, such as infections, injuries, or congenital abnormalities.
Transcription factors are proteins that play a crucial role in regulating gene expression by controlling the transcription of DNA to messenger RNA (mRNA). They function by binding to specific DNA sequences, known as response elements, located in the promoter region or enhancer regions of target genes. This binding can either activate or repress the initiation of transcription, depending on the properties and interactions of the particular transcription factor. Transcription factors often act as part of a complex network of regulatory proteins that determine the precise spatiotemporal patterns of gene expression during development, differentiation, and homeostasis in an organism.
The testis, also known as the testicle, is a male reproductive organ that is part of the endocrine system. It is located in the scrotum, outside of the abdominal cavity. The main function of the testis is to produce sperm and testosterone, the primary male sex hormone.
The testis is composed of many tiny tubules called seminiferous tubules, where sperm are produced. These tubules are surrounded by a network of blood vessels, nerves, and supportive tissues. The sperm then travel through a series of ducts to the epididymis, where they mature and become capable of fertilization.
Testosterone is produced in the Leydig cells, which are located in the interstitial tissue between the seminiferous tubules. Testosterone plays a crucial role in the development and maintenance of male secondary sexual characteristics, such as facial hair, deep voice, and muscle mass. It also supports sperm production and sexual function.
Abnormalities in testicular function can lead to infertility, hormonal imbalances, and other health problems. Regular self-examinations and medical check-ups are recommended for early detection and treatment of any potential issues.
An ovary is a part of the female reproductive system in which ova or eggs are produced through the process of oogenesis. They are a pair of solid, almond-shaped structures located one on each side of the uterus within the pelvic cavity. Each ovary measures about 3 to 5 centimeters in length and weighs around 14 grams.
The ovaries have two main functions: endocrine (hormonal) function and reproductive function. They produce and release eggs (ovulation) responsible for potential fertilization and development of an embryo/fetus during pregnancy. Additionally, they are essential in the production of female sex hormones, primarily estrogen and progesterone, which regulate menstrual cycles, sexual development, and reproduction.
During each menstrual cycle, a mature egg is released from one of the ovaries into the fallopian tube, where it may be fertilized by sperm. If not fertilized, the egg, along with the uterine lining, will be shed, leading to menstruation.
Luteinizing Hormone (LH) is a glycoprotein hormone secreted by the anterior pituitary gland. It plays a crucial role in regulating the reproductive system. The beta subunit of LH is one of the two non-identical polypeptide chains that make up the LH molecule (the other being the alpha subunit, which is common to several hormones).
The beta subunit of LH is unique to LH and is often used in assays to measure and determine the concentration of LH in blood or urine. It's responsible for the biological specificity and activity of the LH hormone. Any changes in the structure of this subunit can affect the function of LH, which in turn can have implications for reproductive processes such as ovulation and testosterone production.
DNA-binding proteins are a type of protein that have the ability to bind to DNA (deoxyribonucleic acid), the genetic material of organisms. These proteins play crucial roles in various biological processes, such as regulation of gene expression, DNA replication, repair and recombination.
The binding of DNA-binding proteins to specific DNA sequences is mediated by non-covalent interactions, including electrostatic, hydrogen bonding, and van der Waals forces. The specificity of binding is determined by the recognition of particular nucleotide sequences or structural features of the DNA molecule.
DNA-binding proteins can be classified into several categories based on their structure and function, such as transcription factors, histones, and restriction enzymes. Transcription factors are a major class of DNA-binding proteins that regulate gene expression by binding to specific DNA sequences in the promoter region of genes and recruiting other proteins to modulate transcription. Histones are DNA-binding proteins that package DNA into nucleosomes, the basic unit of chromatin structure. Restriction enzymes are DNA-binding proteins that recognize and cleave specific DNA sequences, and are widely used in molecular biology research and biotechnology applications.
"Sex differentiation" is a term used in the field of medicine, specifically in reproductive endocrinology and genetics. It refers to the biological development of sexual characteristics that distinguish males from females. This process is regulated by hormones and genetic factors.
There are two main stages of sex differentiation: genetic sex determination and gonadal sex differentiation. Genetic sex determination occurs at fertilization, where the combination of X and Y chromosomes determines the sex of the individual (typically, XX = female and XY = male). Gonadal sex differentiation then takes place during fetal development, where the genetic sex signals the development of either ovaries or testes.
Once the gonads are formed, they produce hormones that drive further sexual differentiation, leading to the development of internal reproductive structures (such as the uterus and fallopian tubes in females, and the vas deferens and seminal vesicles in males) and external genitalia.
It's important to note that while sex differentiation is typically categorized as male or female, there are individuals who may have variations in their sexual development, leading to intersex conditions. These variations can occur at any stage of the sex differentiation process and can result in a range of physical characteristics that do not fit neatly into male or female categories.
Gonads are the reproductive organs that produce gametes (sex cells) and sex hormones. In males, the gonads are the testes, which produce sperm and testosterone. In females, the gonads are the ovaries, which produce eggs and estrogen and progesterone. The development, function, and regulation of the gonads are crucial for reproductive health and fertility.
Adrenal insufficiency is a condition in which the adrenal glands do not produce adequate amounts of certain hormones, primarily cortisol and aldosterone. Cortisol helps regulate metabolism, respond to stress, and suppress inflammation, while aldosterone helps regulate sodium and potassium levels in the body to maintain blood pressure.
Primary adrenal insufficiency, also known as Addison's disease, occurs when there is damage to the adrenal glands themselves, often due to autoimmune disorders, infections, or certain medications. Secondary adrenal insufficiency occurs when the pituitary gland fails to produce enough adrenocorticotropic hormone (ACTH), which stimulates the adrenal glands to produce cortisol.
Symptoms of adrenal insufficiency may include fatigue, weakness, weight loss, decreased appetite, nausea, vomiting, diarrhea, abdominal pain, low blood pressure, dizziness, and darkening of the skin. Treatment typically involves replacing the missing hormones with medications taken orally or by injection.
Phosphoproteins are proteins that have been post-translationally modified by the addition of a phosphate group (-PO3H2) onto specific amino acid residues, most commonly serine, threonine, or tyrosine. This process is known as phosphorylation and is mediated by enzymes called kinases. Phosphoproteins play crucial roles in various cellular processes such as signal transduction, cell cycle regulation, metabolism, and gene expression. The addition or removal of a phosphate group can activate or inhibit the function of a protein, thereby serving as a switch to control its activity. Phosphoproteins can be detected and quantified using techniques such as Western blotting, mass spectrometry, and immunofluorescence.
Hypospadias is a congenital condition in males where the urethral opening (meatus), which is the end of the urethra through which urine exits, is not located at the tip of the penis but instead appears on the underside of the penis. The severity of hypospadias can vary, with some cases having the meatus located closer to the tip and others further down on the shaft or even at the scrotum or perineum (the area between the scrotum and the anus). This condition affects about 1 in every 200-250 male newborns. The exact cause of hypospadias is not fully understood, but it's believed to be a combination of genetic and environmental factors. Surgical correction is usually recommended during infancy or early childhood to prevent complications such as difficulty urinating while standing, problems with sexual function, and psychological issues related to body image.
Promoter regions in genetics refer to specific DNA sequences located near the transcription start site of a gene. They serve as binding sites for RNA polymerase and various transcription factors that regulate the initiation of gene transcription. These regulatory elements help control the rate of transcription and, therefore, the level of gene expression. Promoter regions can be composed of different types of sequences, such as the TATA box and CAAT box, and their organization and composition can vary between different genes and species.
'Gene expression regulation' refers to the processes that control whether, when, and where a particular gene is expressed, meaning the production of a specific protein or functional RNA encoded by that gene. This complex mechanism can be influenced by various factors such as transcription factors, chromatin remodeling, DNA methylation, non-coding RNAs, and post-transcriptional modifications, among others. Proper regulation of gene expression is crucial for normal cellular function, development, and maintaining homeostasis in living organisms. Dysregulation of gene expression can lead to various diseases, including cancer and genetic disorders.
Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.
A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.
Progesterone is a steroid hormone that is primarily produced in the ovaries during the menstrual cycle and in pregnancy. It plays an essential role in preparing the uterus for implantation of a fertilized egg and maintaining the early stages of pregnancy. Progesterone works to thicken the lining of the uterus, creating a nurturing environment for the developing embryo.
During the menstrual cycle, progesterone is produced by the corpus luteum, a temporary structure formed in the ovary after an egg has been released from a follicle during ovulation. If pregnancy does not occur, the levels of progesterone will decrease, leading to the shedding of the uterine lining and menstruation.
In addition to its reproductive functions, progesterone also has various other effects on the body, such as helping to regulate the immune system, supporting bone health, and potentially influencing mood and cognition. Progesterone can be administered medically in the form of oral pills, intramuscular injections, or vaginal suppositories for various purposes, including hormone replacement therapy, contraception, and managing certain gynecological conditions.
Pregnenolone is defined as a steroid hormone produced in the body from cholesterol. It's often referred to as the "mother hormone" since many other hormones, including cortisol, aldosterone, progesterone, testosterone, and estrogen, are synthesized from it.
Pregnenolone is primarily produced in the adrenal glands but can also be produced in smaller amounts in the brain, skin, and sex organs (ovaries and testes). It plays a crucial role in various physiological processes such as maintaining membrane fluidity, acting as an antioxidant, and contributing to cognitive function.
However, it's important to note that while pregnenolone is a hormone, over-the-counter supplements containing this compound are not approved by the FDA for any medical use or condition. As always, consult with a healthcare provider before starting any new supplement regimen.
Progesterone reductase is not a widely recognized or used term in medical literature. However, based on the terms "progesterone" and "reductase," it can be inferred that progesterone reductase might refer to an enzyme responsible for reducing or converting progesterone into another form through a reduction reaction.
Progesterone is a steroid hormone involved in the menstrual cycle, pregnancy, and embryogenesis. Reductases are enzymes that catalyze the transfer of electrons from a donor to an acceptor, often resulting in the reduction of a substrate. In this context, progesterone reductase could potentially refer to an enzyme responsible for reducing progesterone into a different steroid hormone or metabolite.
However, it is essential to note that there is no widely accepted or established definition of "progesterone reductase" in medical literature. If you are looking for information on a specific enzyme related to progesterone metabolism, I would recommend consulting primary scientific literature or seeking guidance from a medical professional.
Messenger RNA (mRNA) is a type of RNA (ribonucleic acid) that carries genetic information copied from DNA in the form of a series of three-base code "words," each of which specifies a particular amino acid. This information is used by the cell's machinery to construct proteins, a process known as translation. After being transcribed from DNA, mRNA travels out of the nucleus to the ribosomes in the cytoplasm where protein synthesis occurs. Once the protein has been synthesized, the mRNA may be degraded and recycled. Post-transcriptional modifications can also occur to mRNA, such as alternative splicing and addition of a 5' cap and a poly(A) tail, which can affect its stability, localization, and translation efficiency.
Genetic transcription is the process by which the information in a strand of DNA is used to create a complementary RNA molecule. This process is the first step in gene expression, where the genetic code in DNA is converted into a form that can be used to produce proteins or functional RNAs.
During transcription, an enzyme called RNA polymerase binds to the DNA template strand and reads the sequence of nucleotide bases. As it moves along the template, it adds complementary RNA nucleotides to the growing RNA chain, creating a single-stranded RNA molecule that is complementary to the DNA template strand. Once transcription is complete, the RNA molecule may undergo further processing before it can be translated into protein or perform its functional role in the cell.
Transcription can be either "constitutive" or "regulated." Constitutive transcription occurs at a relatively constant rate and produces essential proteins that are required for basic cellular functions. Regulated transcription, on the other hand, is subject to control by various intracellular and extracellular signals, allowing cells to respond to changing environmental conditions or developmental cues.
The corpus luteum is a temporary endocrine structure that forms in the ovary after an oocyte (egg) has been released from a follicle during ovulation. It's formed by the remaining cells of the ruptured follicle, which transform into large, hormone-secreting cells.
The primary function of the corpus luteum is to produce progesterone and, to a lesser extent, estrogen during the menstrual cycle or pregnancy. Progesterone plays a crucial role in preparing the uterus for potential implantation of a fertilized egg and maintaining the early stages of pregnancy. If pregnancy does not occur, the corpus luteum will typically degenerate and stop producing hormones after approximately 10-14 days, leading to menstruation.
However, if pregnancy occurs, the developing embryo starts to produce human chorionic gonadotropin (hCG), which signals the corpus luteum to continue secreting progesterone and estrogen until the placenta takes over hormonal production, usually around the end of the first trimester.
Sertoli cells, also known as sustentacular cells or nurse cells, are specialized cells in the seminiferous tubules of the testis in mammals. They play a crucial role in supporting and nurturing the development of sperm cells (spermatogenesis). Sertoli cells create a microenvironment within the seminiferous tubules that facilitates the differentiation, maturation, and survival of germ cells.
These cells have several essential functions:
1. Blood-testis barrier formation: Sertoli cells form tight junctions with each other, creating a physical barrier called the blood-testis barrier, which separates the seminiferous tubules into basal and adluminal compartments. This barrier protects the developing sperm cells from the immune system and provides an isolated environment for their maturation.
2. Nutrition and support: Sertoli cells provide essential nutrients and growth factors to germ cells, ensuring their proper development and survival. They also engulf and digest residual bodies, which are byproducts of spermatid differentiation.
3. Phagocytosis: Sertoli cells have phagocytic properties, allowing them to remove debris and dead cells within the seminiferous tubules.
4. Hormone metabolism: Sertoli cells express receptors for various hormones, such as follicle-stimulating hormone (FSH), testosterone, and estradiol. They play a role in regulating hormonal signaling within the testis by metabolizing these hormones or producing inhibins, which modulate FSH secretion from the pituitary gland.
5. Regulation of spermatogenesis: Sertoli cells produce and secrete various proteins and growth factors that influence germ cell development and proliferation. They also control the release of mature sperm cells into the epididymis through a process called spermiation.
Steroid 11-beta-hydroxylase is a crucial enzyme involved in the steroidogenesis pathway, specifically in the synthesis of cortisol and aldosterone, which are vital hormones produced by the adrenal glands. This enzyme is encoded by the CYP11B1 gene in humans.
The enzyme's primary function is to catalyze the conversion of 11-deoxycortisol to cortisol and 11-deoxycorticosterone to aldosterone through the process of hydroxylation at the 11-beta position of the steroid molecule. Cortisol is a critical glucocorticoid hormone that helps regulate metabolism, immune response, and stress response, while aldosterone is a mineralocorticoid hormone responsible for maintaining electrolyte and fluid balance in the body.
Deficiencies or mutations in the CYP11B1 gene can lead to various disorders, such as congenital adrenal hyperplasia (CAH), which may result in impaired cortisol and aldosterone production, causing hormonal imbalances and associated symptoms.
Cyclic adenosine monophosphate (cAMP) is a key secondary messenger in many biological processes, including the regulation of metabolism, gene expression, and cellular excitability. It is synthesized from adenosine triphosphate (ATP) by the enzyme adenylyl cyclase and is degraded by the enzyme phosphodiesterase.
In the body, cAMP plays a crucial role in mediating the effects of hormones and neurotransmitters on target cells. For example, when a hormone binds to its receptor on the surface of a cell, it can activate a G protein, which in turn activates adenylyl cyclase to produce cAMP. The increased levels of cAMP then activate various effector proteins, such as protein kinases, which go on to regulate various cellular processes.
Overall, the regulation of cAMP levels is critical for maintaining proper cellular function and homeostasis, and abnormalities in cAMP signaling have been implicated in a variety of diseases, including cancer, diabetes, and neurological disorders.
Granulosa cells are specialized cells that surround and enclose the developing egg cells (oocytes) in the ovaries. They play a crucial role in the growth, development, and maturation of the follicles (the fluid-filled sacs containing the oocytes) by providing essential nutrients and hormones.
Granulosa cells are responsible for producing estrogen, which supports the development of the endometrium during the menstrual cycle in preparation for a potential pregnancy. They also produce inhibin and activin, two hormones that regulate the function of the pituitary gland and its secretion of follicle-stimulating hormone (FSH) and luteinizing hormone (LH).
These cells are critical for female reproductive health and fertility. Abnormalities in granulosa cell function can lead to various reproductive disorders, such as polycystic ovary syndrome (PCOS), premature ovarian failure, and infertility.
17-Hydroxysteroid dehydrogenases (17-HSDs) are a group of enzymes that play a crucial role in steroid hormone biosynthesis. They are involved in the conversion of 17-ketosteroids to 17-hydroxy steroids or vice versa, by adding or removing a hydroxyl group (–OH) at the 17th carbon atom of the steroid molecule. This conversion is essential for the production of various steroid hormones, including cortisol, aldosterone, and sex hormones such as estrogen and testosterone.
There are several isoforms of 17-HSDs, each with distinct substrate specificities, tissue distributions, and functions:
1. 17-HSD type 1 (17-HSD1): This isoform primarily catalyzes the conversion of estrone (E1) to estradiol (E2), an active form of estrogen. It is mainly expressed in the ovary, breast, and adipose tissue.
2. 17-HSD type 2 (17-HSD2): This isoform catalyzes the reverse reaction, converting estradiol (E2) to estrone (E1). It is primarily expressed in the placenta, prostate, and breast tissue.
3. 17-HSD type 3 (17-HSD3): This isoform is responsible for the conversion of androstenedione to testosterone, an essential step in male sex hormone biosynthesis. It is predominantly expressed in the testis and adrenal gland.
4. 17-HSD type 4 (17-HSD4): This isoform catalyzes the conversion of dehydroepiandrosterone (DHEA) to androstenedione, an intermediate step in steroid hormone biosynthesis. It is primarily expressed in the placenta.
5. 17-HSD type 5 (17-HSD5): This isoform catalyzes the conversion of cortisone to cortisol, a critical step in glucocorticoid biosynthesis. It is predominantly expressed in the adrenal gland and liver.
6. 17-HSD type 6 (17-HSD6): This isoform catalyzes the conversion of androstenedione to testosterone, similar to 17-HSD3. However, it has a different substrate specificity and is primarily expressed in the ovary.
7. 17-HSD type 7 (17-HSD7): This isoform catalyzes the conversion of estrone (E1) to estradiol (E2), similar to 17-HSD1. However, it has a different substrate specificity and is primarily expressed in the ovary.
8. 17-HSD type 8 (17-HSD8): This isoform catalyzes the conversion of DHEA to androstenedione, similar to 17-HSD4. However, it has a different substrate specificity and is primarily expressed in the testis.
9. 17-HSD type 9 (17-HSD9): This isoform catalyzes the conversion of estrone (E1) to estradiol (E2), similar to 17-HSD1. However, it has a different substrate specificity and is primarily expressed in the placenta.
10. 17-HSD type 10 (17-HSD10): This isoform catalyzes the conversion of DHEA to androstenedione, similar to 17-HSD4. However, it has a different substrate specificity and is primarily expressed in the testis.
11. 17-HSD type 11 (17-HSD11): This isoform catalyzes the conversion of estrone (E1) to estradiol (E2), similar to 17-HSD1. However, it has a different substrate specificity and is primarily expressed in the placenta.
12. 17-HSD type 12 (17-HSD12): This isoform catalyzes the conversion of DHEA to androstenedione, similar to 17-HSD4. However, it has a different substrate specificity and is primarily expressed in the testis.
13. 17-HSD type 13 (17-HSD13): This isoform catalyzes the conversion of estrone (E1) to estradiol (E2), similar to 17-HSD1. However, it has a different substrate specificity and is primarily expressed in the placenta.
14. 17-HSD type 14 (17-HSD14): This isoform catalyzes the conversion of DHEA to androstenedione, similar to 17-HSD4. However, it has a different substrate specificity and is primarily expressed in the testis.
15. 17-HSD type 15 (17-HSD15): This isoform catalyzes the conversion of estrone (E1) to estradiol (E2), similar to 17-HSD1. However, it has a different substrate specificity and is primarily expressed in the placenta.
16. 17-HSD type 16 (17-HSD16): This isoform catalyzes the conversion of DHEA to androstenedione, similar to 17-HSD4. However, it has a different substrate specificity and is primarily expressed in the testis.
17. 17-HSD type 17 (17-HSD17): This isoform catalyzes the conversion of estrone (E1) to estradiol (E2), similar to 17-HSD1. However, it has a different substrate specificity and is primarily expressed in the placenta.
18. 17-HSD type 18 (17-HSD18): This isoform catalyzes the conversion of DHEA to androstenedione, similar to 17-HSD4. However, it has a different substrate specificity and is primarily expressed in the testis.
19. 17-HSD type 19 (17-HSD19): This isoform catalyzes the conversion of estrone (E1) to estradiol (E2), similar to 17-HSD1. However, it has a different substrate specificity and is primarily expressed in the placenta.
20. 17-HSD type 20 (17-HSD20): This isoform catalyzes the conversion of DHEA to androstenedione, similar to 17-HSD4. However, it has a different substrate specificity and is primarily expressed in the testis.
21. 17-HSD type 21 (17-HSD21): This isoform catalyzes the conversion of estrone (E1) to estradiol (E2), similar to 17-HSD1. However, it has a different substrate specificity and is primarily expressed in the placenta.
22. 17-HSD type 22 (17-HSD22): This isoform catalyzes the conversion of DHEA to androstenedione, similar to 17-HSD4. However, it has a different substrate specificity and is primarily expressed in the testis.
23. 17-HSD type 23 (17-HSD23): This isoform catalyzes the conversion of estrone (E1) to estradiol (E2), similar to 17-HSD1. However, it has a different substrate specificity and is primarily expressed in the placenta.
24. 17-HSD type 24 (17-HSD24): This isoform catalyzes the conversion of DHEA to androstenedione, similar to 17-HSD4. However, it has a different substrate specificity and is primarily expressed in the testis.
25. 17-HSD type 25 (17-HSD25): This isoform catalyzes the conversion of estrone (E1) to estradiol (E2), similar to 17-HSD1. However, it has a different substrate specificity and is primarily expressed in the placenta.
26. 17-HSD type 26 (17-HSD26): This isoform catalyzes the conversion of DHEA to androstenedione, similar to 17-HSD4. However
Adrenocorticotropic Hormone (ACTH) is a hormone produced and released by the anterior pituitary gland, a small endocrine gland located at the base of the brain. ACTH plays a crucial role in the regulation of the body's stress response and has significant effects on various physiological processes.
The primary function of ACTH is to stimulate the adrenal glands, which are triangular-shaped glands situated on top of the kidneys. The adrenal glands consist of two parts: the outer cortex and the inner medulla. ACTH specifically targets the adrenal cortex, where it binds to specific receptors and initiates a series of biochemical reactions leading to the production and release of steroid hormones, primarily cortisol (a glucocorticoid) and aldosterone (a mineralocorticoid).
Cortisol is involved in various metabolic processes, such as regulating blood sugar levels, modulating the immune response, and helping the body respond to stress. Aldosterone plays a vital role in maintaining electrolyte and fluid balance by promoting sodium reabsorption and potassium excretion in the kidneys.
ACTH release is controlled by the hypothalamus, another part of the brain, which produces corticotropin-releasing hormone (CRH). CRH stimulates the anterior pituitary gland to secrete ACTH, which in turn triggers cortisol production in the adrenal glands. This complex feedback system helps maintain homeostasis and ensures that appropriate amounts of cortisol are released in response to various physiological and psychological stressors.
Disorders related to ACTH can lead to hormonal imbalances, resulting in conditions such as Cushing's syndrome (excessive cortisol production) or Addison's disease (insufficient cortisol production). Proper diagnosis and management of these disorders typically involve assessing the function of the hypothalamic-pituitary-adrenal axis and addressing any underlying issues affecting ACTH secretion.
In the context of medical and biological sciences, a "binding site" refers to a specific location on a protein, molecule, or cell where another molecule can attach or bind. This binding interaction can lead to various functional changes in the original protein or molecule. The other molecule that binds to the binding site is often referred to as a ligand, which can be a small molecule, ion, or even another protein.
The binding between a ligand and its target binding site can be specific and selective, meaning that only certain ligands can bind to particular binding sites with high affinity. This specificity plays a crucial role in various biological processes, such as signal transduction, enzyme catalysis, or drug action.
In the case of drug development, understanding the location and properties of binding sites on target proteins is essential for designing drugs that can selectively bind to these sites and modulate protein function. This knowledge can help create more effective and safer therapeutic options for various diseases.
Transcriptional activation is the process by which a cell increases the rate of transcription of specific genes from DNA to RNA. This process is tightly regulated and plays a crucial role in various biological processes, including development, differentiation, and response to environmental stimuli.
Transcriptional activation occurs when transcription factors (proteins that bind to specific DNA sequences) interact with the promoter region of a gene and recruit co-activator proteins. These co-activators help to remodel the chromatin structure around the gene, making it more accessible for the transcription machinery to bind and initiate transcription.
Transcriptional activation can be regulated at multiple levels, including the availability and activity of transcription factors, the modification of histone proteins, and the recruitment of co-activators or co-repressors. Dysregulation of transcriptional activation has been implicated in various diseases, including cancer and genetic disorders.
Testosterone is a steroid hormone that belongs to androsten class of hormones. It is primarily secreted by the Leydig cells in the testes of males and, to a lesser extent, by the ovaries and adrenal glands in females. Testosterone is the main male sex hormone and anabolic steroid. It plays a key role in the development of masculine characteristics, such as body hair and muscle mass, and contributes to bone density, fat distribution, red cell production, and sex drive. In females, testosterone contributes to sexual desire and bone health. Testosterone is synthesized from cholesterol and its production is regulated by luteinizing hormone (LH) and follicle-stimulating hormone (FSH).
Organ specificity, in the context of immunology and toxicology, refers to the phenomenon where a substance (such as a drug or toxin) or an immune response primarily affects certain organs or tissues in the body. This can occur due to various reasons such as:
1. The presence of specific targets (like antigens in the case of an immune response or receptors in the case of drugs) that are more abundant in these organs.
2. The unique properties of certain cells or tissues that make them more susceptible to damage.
3. The way a substance is metabolized or cleared from the body, which can concentrate it in specific organs.
For example, in autoimmune diseases, organ specificity describes immune responses that are directed against antigens found only in certain organs, such as the thyroid gland in Hashimoto's disease. Similarly, some toxins or drugs may have a particular affinity for liver cells, leading to liver damage or specific drug interactions.
Developmental gene expression regulation refers to the processes that control the activation or repression of specific genes during embryonic and fetal development. These regulatory mechanisms ensure that genes are expressed at the right time, in the right cells, and at appropriate levels to guide proper growth, differentiation, and morphogenesis of an organism.
Developmental gene expression regulation is a complex and dynamic process involving various molecular players, such as transcription factors, chromatin modifiers, non-coding RNAs, and signaling molecules. These regulators can interact with cis-regulatory elements, like enhancers and promoters, to fine-tune the spatiotemporal patterns of gene expression during development.
Dysregulation of developmental gene expression can lead to various congenital disorders and developmental abnormalities. Therefore, understanding the principles and mechanisms governing developmental gene expression regulation is crucial for uncovering the etiology of developmental diseases and devising potential therapeutic strategies.
A cell line is a culture of cells that are grown in a laboratory for use in research. These cells are usually taken from a single cell or group of cells, and they are able to divide and grow continuously in the lab. Cell lines can come from many different sources, including animals, plants, and humans. They are often used in scientific research to study cellular processes, disease mechanisms, and to test new drugs or treatments. Some common types of human cell lines include HeLa cells (which come from a cancer patient named Henrietta Lacks), HEK293 cells (which come from embryonic kidney cells), and HUVEC cells (which come from umbilical vein endothelial cells). It is important to note that cell lines are not the same as primary cells, which are cells that are taken directly from a living organism and have not been grown in the lab.
Luteal cells, also known as granulosa-lutein cells, are specialized cells found in the ovary that play a crucial role in the menstrual cycle and pregnancy. They are formed from the granulosa cells of the ovarian follicle after ovulation, during which the follicle ruptures and releases the egg (oocyte). The remaining cells then transform into luteal cells, forming a structure called the corpus luteum.
The primary function of luteal cells is to produce and secrete progesterone and estrogen, two hormones that are essential for preparing the uterus for implantation of a fertilized egg and maintaining early pregnancy. Progesterone stimulates the growth of blood vessels in the endometrium (the lining of the uterus), making it thicker and more receptive to the implantation of a fertilized egg. It also suppresses further development of ovarian follicles, preventing the release of additional eggs during pregnancy.
If pregnancy does not occur, the corpus luteum will degenerate, and the levels of progesterone and estrogen will decrease, leading to menstruation. However, if pregnancy occurs, the developing embryo will produce human chorionic gonadotropin (hCG), which stimulates the luteal cells to continue producing progesterone and estrogen until the placenta takes over these functions around the 10th week of gestation.
In summary, luteal cells are specialized ovarian cells that produce and secrete progesterone and estrogen during the menstrual cycle and early pregnancy to prepare the uterus for implantation and maintain pregnancy.
Protein binding, in the context of medical and biological sciences, refers to the interaction between a protein and another molecule (known as the ligand) that results in a stable complex. This process is often reversible and can be influenced by various factors such as pH, temperature, and concentration of the involved molecules.
In clinical chemistry, protein binding is particularly important when it comes to drugs, as many of them bind to proteins (especially albumin) in the bloodstream. The degree of protein binding can affect a drug's distribution, metabolism, and excretion, which in turn influence its therapeutic effectiveness and potential side effects.
Protein-bound drugs may be less available for interaction with their target tissues, as only the unbound or "free" fraction of the drug is active. Therefore, understanding protein binding can help optimize dosing regimens and minimize adverse reactions.
A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.
An amino acid sequence is the specific order of amino acids in a protein or peptide molecule, formed by the linking of the amino group (-NH2) of one amino acid to the carboxyl group (-COOH) of another amino acid through a peptide bond. The sequence is determined by the genetic code and is unique to each type of protein or peptide. It plays a crucial role in determining the three-dimensional structure and function of proteins.
Chorionic Gonadotropin (hCG) is a hormone that is produced during pregnancy. It is produced by the placenta after implantation of the fertilized egg in the uterus. The main function of hCG is to prevent the disintegration of the corpus luteum, which is a temporary endocrine structure that forms in the ovary after ovulation and produces progesterone during early pregnancy. Progesterone is essential for maintaining the lining of the uterus and supporting the pregnancy.
hCG can be detected in the blood or urine as early as 10 days after conception, and its levels continue to rise throughout the first trimester of pregnancy. In addition to its role in maintaining pregnancy, hCG is also used as a clinical marker for pregnancy and to monitor certain medical conditions such as gestational trophoblastic diseases.
Gene expression is the process by which the information encoded in a gene is used to synthesize a functional gene product, such as a protein or RNA molecule. This process involves several steps: transcription, RNA processing, and translation. During transcription, the genetic information in DNA is copied into a complementary RNA molecule, known as messenger RNA (mRNA). The mRNA then undergoes RNA processing, which includes adding a cap and tail to the mRNA and splicing out non-coding regions called introns. The resulting mature mRNA is then translated into a protein on ribosomes in the cytoplasm through the process of translation.
The regulation of gene expression is a complex and highly controlled process that allows cells to respond to changes in their environment, such as growth factors, hormones, and stress signals. This regulation can occur at various stages of gene expression, including transcriptional activation or repression, RNA processing, mRNA stability, and translation. Dysregulation of gene expression has been implicated in many diseases, including cancer, genetic disorders, and neurological conditions.
Luteinizing Hormone (LH) receptors are specialized protein structures found on the surface of certain cells in the body. They play a crucial role in the endocrine system by binding to specific hormones, such as Luteinizing Hormone, and triggering a series of intracellular events that ultimately lead to changes in cell function.
In particular, LH receptors are found on the cells of the ovaries and testes. In females, when LH binds to its receptor in the ovary, it stimulates ovulation and the development of the corpus luteum, which produces progesterone. In males, LH (also known as Interstitial Cell-Stimulating Hormone in this context) binding to its receptor on testicular Leydig cells triggers the production of testosterone.
Therefore, LH receptors are essential for reproductive processes and the maintenance of secondary sexual characteristics.
Reverse Transcriptase Polymerase Chain Reaction (RT-PCR) is a laboratory technique used in molecular biology to amplify and detect specific DNA sequences. This technique is particularly useful for the detection and quantification of RNA viruses, as well as for the analysis of gene expression.
The process involves two main steps: reverse transcription and polymerase chain reaction (PCR). In the first step, reverse transcriptase enzyme is used to convert RNA into complementary DNA (cDNA) by reading the template provided by the RNA molecule. This cDNA then serves as a template for the PCR amplification step.
In the second step, the PCR reaction uses two primers that flank the target DNA sequence and a thermostable polymerase enzyme to repeatedly copy the targeted cDNA sequence. The reaction mixture is heated and cooled in cycles, allowing the primers to anneal to the template, and the polymerase to extend the new strand. This results in exponential amplification of the target DNA sequence, making it possible to detect even small amounts of RNA or cDNA.
RT-PCR is a sensitive and specific technique that has many applications in medical research and diagnostics, including the detection of viruses such as HIV, hepatitis C virus, and SARS-CoV-2 (the virus that causes COVID-19). It can also be used to study gene expression, identify genetic mutations, and diagnose genetic disorders.
"Cells, cultured" is a medical term that refers to cells that have been removed from an organism and grown in controlled laboratory conditions outside of the body. This process is called cell culture and it allows scientists to study cells in a more controlled and accessible environment than they would have inside the body. Cultured cells can be derived from a variety of sources, including tissues, organs, or fluids from humans, animals, or cell lines that have been previously established in the laboratory.
Cell culture involves several steps, including isolation of the cells from the tissue, purification and characterization of the cells, and maintenance of the cells in appropriate growth conditions. The cells are typically grown in specialized media that contain nutrients, growth factors, and other components necessary for their survival and proliferation. Cultured cells can be used for a variety of purposes, including basic research, drug development and testing, and production of biological products such as vaccines and gene therapies.
It is important to note that cultured cells may behave differently than they do in the body, and results obtained from cell culture studies may not always translate directly to human physiology or disease. Therefore, it is essential to validate findings from cell culture experiments using additional models and ultimately in clinical trials involving human subjects.
Luteinizing Hormone (LH) is a glycoprotein hormone, which is primarily produced and released by the anterior pituitary gland. In women, a surge of LH triggers ovulation, the release of an egg from the ovaries during the menstrual cycle. During pregnancy, LH stimulates the corpus luteum to produce progesterone. In men, LH stimulates the testes to produce testosterone. It plays a crucial role in sexual development, reproduction, and maintaining the reproductive system.
Theca cells are specialized cells that are part of the follicle where the egg matures in the ovary. They are located in the outer layer of the follicle and play an important role in producing hormones necessary for the growth and development of the follicle and the egg within it. Specifically, they produce androgens, such as testosterone, which are then converted into estrogens by another type of cells in the follicle called granulosa cells. These hormones help to thicken the lining of the uterus in preparation for a possible pregnancy. In some cases, theca cells can become overactive and produce too much testosterone, leading to conditions such as polycystic ovary syndrome (PCOS).
Transfection is a term used in molecular biology that refers to the process of deliberately introducing foreign genetic material (DNA, RNA or artificial gene constructs) into cells. This is typically done using chemical or physical methods, such as lipofection or electroporation. Transfection is widely used in research and medical settings for various purposes, including studying gene function, producing proteins, developing gene therapies, and creating genetically modified organisms. It's important to note that transfection is different from transduction, which is the process of introducing genetic material into cells using viruses as vectors.
Deoxyribonucleic acid (DNA) is the genetic material present in the cells of organisms where it is responsible for the storage and transmission of hereditary information. DNA is a long molecule that consists of two strands coiled together to form a double helix. Each strand is made up of a series of four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - that are linked together by phosphate and sugar groups. The sequence of these bases along the length of the molecule encodes genetic information, with A always pairing with T and C always pairing with G. This base-pairing allows for the replication and transcription of DNA, which are essential processes in the functioning and reproduction of all living organisms.
A "knockout" mouse is a genetically engineered mouse in which one or more genes have been deleted or "knocked out" using molecular biology techniques. This allows researchers to study the function of specific genes and their role in various biological processes, as well as potential associations with human diseases. The mice are generated by introducing targeted DNA modifications into embryonic stem cells, which are then used to create a live animal. Knockout mice have been widely used in biomedical research to investigate gene function, disease mechanisms, and potential therapeutic targets.
Steroidogenic factor 1
Marion Sewer
Liver receptor homolog-1
Genetics of infertility
DAX1
TRERF1
Androgen insensitivity syndrome
SOX9
DGKQ
Anti-Müllerian hormone
Organozirconium and organohafnium chemistry
GATA6
Infertility
Mir-383 microRNA precursor family
Melanocortin 2 receptor accessory protein
Wilms tumor protein
Sterol regulatory element-binding protein 1
TCF21 (gene)
UBP1
Catenin beta-1
TFAP2A
STAR (gene)
PNRC1
COUP-TFII
Sex-determining region Y protein
Cholesterol side-chain cleavage enzyme
SF1
PNRC2
FATE1
SAE1
Steroidogenic factor 1 - Wikipedia
Role of steroidogenic factor-1 in the pathogenesis of adrenocortical tumours | ECE2015 | 17th European Congress of...
Steroidogenic factor 1 and Dax-1 colocalize in multiple cell lineages: potential links in endocrine development.
Swyer syndrome: MedlinePlus Genetics
CAP logo rgb[1]
Pituitary Tumors Pathology: Overview, Anterior Pituitary Gland Tumors - Pituitary Adenomas, Pituitary Adenoma Subtypes
JCI - Testicular differentiation factor SF-1 is required for human spleen development
Burrin JM[au] - Search Results - PubMed
STF-1 (human)
Thea Willis - Research output - King's College London
Frontiers | Diverged Effects of Piperine on Testicular Development: Stimulating Leydig Cell Development but Inhibiting...
SMART: ZnF C4 domain annotation
Scientific publications - Page 482 of 627 | IGBMC
A Case Report: Challenge in Treatment of a Rare Condition of Gonadal Agenesis and Bipolar Disease
Iwan Jones
3 Sex Begins in the Womb | Exploring the Biological Contributions to Human Health: Does Sex Matter? | The National Academies...
KAKEN - Research Projects | Brain mechanism for energy sensing and food preference. (KAKENHI-PLANNED-22126005)
Metabolic and feeding adjustments during pregnancy | Nature Reviews Endocrinology
ZNF653 gene | Semantic Scholar
Valina L. Dawson - Publications
WikiGenes - Wnt4 - wingless-type MMTV integration site family...
Index by author - February 01, 2005, 67 (2) | Molecular Pharmacology
G-LISA RhoA Activation Assay Biochem Kit (luminescence format) - Cytoskeleton, Inc.
Loss of Mitogen-Activated Protein Kinase Kinase Kinase 4 (MAP3K4) Reveals a Requirement for MAPK Signalling in Mouse Sex...
JCI - Cannabinoid receptor 1 signaling in hepatocytes and stellate cells does not contribute to NAFLD
Reactome | polySUMO2-K119,K194-NR5A1 [nucleoplasm]
Zeranol stimulates proliferation and aromatase activation in human breast preadipocytes
PhD Gregor Majdič
Medicine - Grants - Albert Einstein College of Medicine
DeCS
Acute regulatory protein1
- Consistent with increase in serum T, piperine increased Leydig cell number, cell size, and multiple steroidogenic pathway proteins, including steroidogenic acute regulatory protein, cholesterol side-chain cleavage enzyme, 3β-hydroxysteroid dehydrogenase 1, 17α-hydroxylase/20-lyase, and steroidogenic factor 1 expression levels. (frontiersin.org)
Testicular5
- Increase in SF-1 protein and detection in the steroidogenic Leydig cells and testicular cords coincides with development. (wikipedia.org)
- His past medical history is significant for gonadal agenesis, testicular implants placement at age 16, bipolar type 1 diagnosed 2 years ago before the presentation. (scirp.org)
- Congenital agonadism is also known as congenital anorchia, male gonadal agenesis, testicular agenesis, vanishing testes syndrome, regressed testes syndrome [1]. (scirp.org)
- The diagnosis is made in the absence of palpable testis in the testicular sac and is sometimes discovered in young male children as with our patient or based on regular healthy appointments [1]. (scirp.org)
- Selected oxidative stress parameters and testicular and adrenal steroidogenic capacities of adult mice were measured. (biomedcentral.com)
NR5A14
- Steroidogenic factor-1 (SF-1, NR5A1) is a transcription factor that plays an essential role in the development of adrenal glands and gonads. (endocrine-abstracts.org)
- Background: Individuals with NR5A1 mutations encoding steroidogenic factor-1 (SF1) develop a phenotypically broad range of disorders of sexual development (DSD). (elsevierpure.com)
- Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males. (cdc.gov)
- A novel mutation in steroidogenic factor (SF1/NR5A1) gene in a patient with 46 XY DSD without adrenal insufficiency. (cdc.gov)
Proteins1
- Key regulators identified in this context include the STAT1:STAT2 heterodimer and interferon regulatory factor family proteins. (bvsalud.org)
Leydig2
- Using in situ hybridization with SF-1 cRNA specific probe detected gene transcripts in adrenocortical cells, Leydig cells, and ovarian theca and granulosa cells. (wikipedia.org)
- For in vitro studies, immature Leydig cells were isolated from 35-day-old male rats and treated with 50 μM piperine in the presence of different steroidogenic stimulators/substrates for 24 h. (frontiersin.org)
Regulates4
- Analysis of mouse SF-1 cDNA revealed sequence similarities with Drosophila fushi tarazu factor I (FTZ-F1) which regulates the fushi tarazu homeobox gene. (wikipedia.org)
- We showed that SF-1 dosage differentially regulates the expression of numerous and distinct genes, involved in a variety of biological processes, suggesting that fine regulation of SF-1 dosage is a critical determinant of its action during adrenal development, function and tumourigenesis. (endocrine-abstracts.org)
- METHODS: Firstly, we downloaded the GC and glycolysis-related microarray datasets from TCGA and MSigDB databases and took the intersection to screen out the transcription factor LHX9 that regulates GC glycolytic metabolic reprogramming. (bvsalud.org)
- Phosphorylated STAT3 (p-STAT3), as a transcription factor, binds to and regulates its target gene such as POMC gene, playing the physiological function of leptin. (biomedcentral.com)
Pathway4
- These similar phenotypes suggest that SF-1 and DAX-1 act in the same pathway(s) of endocrine development. (duke.edu)
- The striking colocalization of SF-1 and Dax-1 supports the model that they are intimately linked in a common pathway of endocrine development. (duke.edu)
- Red wine polyphenolic compounds inhibit vascular endothelial growth factor expression in vascular smooth muscle cells by preventing the activation of the p38 mitogen-activated protein kinase pathway. (igbmc.fr)
- Steroidogenic pathway for cortisol, aldosterone, and sex steroid synthesis. (medscape.com)
Protein6
- The steroidogenic factor 1 (SF-1) protein is a transcription factor involved in sex determination by controlling the activity of genes related to the reproductive glands or gonads and adrenal glands. (wikipedia.org)
- For example, SF-1 cDNA shares an identical 1017 base-pair sequence with embryonal long terminal repeat-binding protein (ELP) cDNA isolated from embryonal carcinoma cells, differing only in their terminal ends. (wikipedia.org)
- However, in the ovaries, gonadal sexual differentiation is facilitated by reductions in SF-1 transcript and protein. (wikipedia.org)
- RACK1 depends on protein kinase C activity to translocate from the perinuclear region to the cell periphery and associates with the plasma membrane through interactions with KERATIN-1 and INTEGRIN BETA-1. (bvsalud.org)
- In a new study published in Cell Reports , researchers led by the National Institute for Physiological Sciences (NIPS) employed a high fat diet-fed mouse model to demonstrate how neurons that express a protein called steroidogenic factor 1 (SF1) influence inflammation in different regions or "depots" of fat. (technologynetworks.com)
- Spermatogenic phenotype of testis-specific protein, Y-encoded, 1 (TSPY1) dosage deficiency is independent of variations in TSPY-like 1 (TSPYL1) and TSPY-like 5 (TSPYL5): a case-control study in a Han Chinese population. (nih.gov)
Receptor2
- SF-1 is considered an orphan receptor as high-affinity naturally occurring ligands have yet to be identified. (wikipedia.org)
- The Effects of NLY01, a Novel Glucagon-Like Peptide-1 Receptor Agonist, on Cuprizone-Induced Demyelination and Remyelination: Challenges and Future Perspectives. (neurotree.org)
Transcription factor7
- Mutations to CDK7 prevent interaction with the basal transcription factor, TFIIH, and formation of CDK-activating kinase complex. (wikipedia.org)
- We identified new functional interactions between SF-1 and neuron-restrictive silencer factor/RE1-silencing transcription factor (NRSF/REST) suggesting that SF-1 has a broader role than initially thought in regulating tissue-specific gene expression programs. (endocrine-abstracts.org)
- However, classification based upon the driving transcription factor for each adenoma subtype is emerging as an additional method for classification. (cap.org)
- Antibodies directed against the transcription factors steroidogenic factor 1 (SF1) and transcription factor 1 (Pit-1) are becoming useful diagnostic tools. (cap.org)
- A third transcription factor, pituitary cell-restricted T box factor (Tpit), drives corticotroph adenomas but its antibody is not yet commercially available as an IHC marker. (cap.org)
- Adenomas driven by the transcription factor SF1, which are exclusively of the gonadotroph type, are a common subtype encountered by the surgical pathologist. (cap.org)
- Transcription factors (TFs) bind to specific regions of DNA known as transcription factor binding sites (TFBSs) and modulate gene expression by interacting with the transcriptional machinery. (bvsalud.org)
Orphan1
- Mutations of the orphan nuclear receptors, steroidogenic factor 1 (SF-1) and DAX-1, cause complex endocrine phenotypes that include impaired adrenal development and hypogonadotrophic hypogonadism. (duke.edu)
Aromatase4
- SF-1 levels is strongly expressed at the onset of follicular development in theca and granulosa cells which precedes expression of the aromatase enzyme responsible for estrogen biosynthesis. (wikipedia.org)
- The synthesis of estrogens in breast tissue is catalyzed by the enzyme aromatase, which is encoded by the gene cytochrome P450 family 19 subfamily A member 1 (CYP19A1). (spandidos-publications.com)
- Expression levels of mRNA for neurosteroidogenic enzymes 17β-HSD, 5α-reductase, 3α-HSD and cytochrome P450 aromatase in the fetal wild type and SF-1 knockout mouse brain. (arnes.si)
- At the same time, in these groups, there was an increase in the level of aromatase, malondialdehyde, cholesterol, and steroidogenic factor-1 (SF-1) expression in the adrenal cortex and an enhancement in histological lesions. (biomedcentral.com)
Neurons1
- Effects of Deletion of Mutant Huntingtin in Steroidogenic Factor 1 Neurons on the Psychiatric and Metabolic Phenotype in the BACHD Mouse Model of Huntington Disease. (lu.se)
Endocrine2
- Scholars@Duke publication: Steroidogenic factor 1 and Dax-1 colocalize in multiple cell lineages: potential links in endocrine development. (duke.edu)
- The ovaries no longer have follicles and their function, as a steroidogenic endocrine organ does not work anymore. (bvsalud.org)
Testis3
- We identified fetal and adult testis expressed-1 (FATE1), a cancer testis antigen (CTA), as a new dosage-dependent target of SF-1. (endocrine-abstracts.org)
- In mouse embryos, SF-1 expression in the urogenital ridge and brain either preceded or coincided with Dax-1 expression, with coordinate expression thereafter in the adrenal cortex, testis, ovary, hypothalamus, and anterior pituitary. (duke.edu)
- It is suggested that the syndrome is due to regression of the testis at the late stage of prenatal development [1]. (scirp.org)
Expression7
- SF-1 expression is localized to adult steroidogenic tissues correlating with known expression profiles of steroid hydroxylases. (wikipedia.org)
- SF-1 specific antibody studies confirmed expression profile of SF-1 in rats and humans corresponding to sites of transcript detection. (wikipedia.org)
- SF-1 transcripts precede the onset of SRY expression in the fetal testes hinting at gonadal developmental role. (wikipedia.org)
- Multiple level regulation of SF-1 activity is exerted by interaction with cofactors, post-translational modifications and epigenetic gene expression regulation. (endocrine-abstracts.org)
- The slightly earlier onset of SF-1 expression and its ability to bind specifically to a conserved sequence in the Dax-1 5'-flanking region suggested that SF-1 may activate Dax-1 expression. (duke.edu)
- However, promoter activity of Dax-1 5'-flanking sequences did not require this potential SF-1-responsive element, and Dax-1 expression was unimpaired in knockout mice lacking SF-1, establishing that SF-1 is not required for Dax-1 gene expression in these settings. (duke.edu)
- Steroidogenic factor-1: a key regulator of gonadotroph gene expression. (nih.gov)
Pathways1
- We have gained crucial insights into molecular factors and pathways of the cells generating either the supporting gonadal cells or germ cells of both sexes. (lidsen.com)
Wilms1
- Wilms' tumor suppressor gene 1 (WT1) is the gene responsible for the developmental process of AGP. (biomedcentral.com)
20231
- 21(1): 833, 2023 Nov 18. (bvsalud.org)
Transcriptional1
- Other critical domains of SF-1 include a proline-rich hinge region, ligand-binding domain, and a C-terminal activation domain for transcriptional interactions. (wikipedia.org)
Nuclear1
- Transcription factors 3: nuclear receptors. (embl.de)
Deletion1
- The autosomal recessive form is due to a mutation or deletion of the gene that codes for steroidogenic factor 1 (SF-1) on chromosome 9q33 (OMIM 184757). (medscape.com)
Mice2
- The influence of gonadal steroid hormones on immunoreactive kisspeptin in the preoptic area and arcuate nucleus of developing agonadal mice with a genetic disruption of Steroidogenic factor-1. (arnes.si)
- Altered position of cell bodies and fibers in the ventromedial region in SF-1 knockout mice. (arnes.si)
Deficiency1
- Although the frequency has been estimated in Japan at 1 case per 12,500 births, clinical experience indicates that this disease is not as common as congenital adrenal hyperplasia due to 21-hydroxylase deficiency (incidence is approximately 1 per 10,000-15,000 births worldwide). (medscape.com)
Reproduction1
- SF-1 is a critical regulator of reproduction, regulating the transcription of key genes involved in sexual development and reproduction, most notably StAR and P450SCC. (wikipedia.org)
Gonadotroph1
- SF1 drives gonadotroph adenomas while Pit-1 drives GH, PRL, and TSH adenomas. (cap.org)
Roles1
- Embryonic mouse SF-1 transcripts have been discovered to localize within regions of the developing diencephalon and subsequently in the ventromedial hypothalamic nucleus (VMH) suggesting roles beyond steroidogenic maintenance. (wikipedia.org)
Gonads1
- SF-1 transcripts initially localize to the urogenital ridge before SF-1 expressing cells resolve into distinct adrenocortical and gonadal precursors that ultimately give rise to adrenal cortex and gonads. (wikipedia.org)
Infertile1
- High serum FSH is not a risk factor for low bone mineral density in infertile men. (nih.gov)
Development3
- Indeed, WT1 and its target steroidogenic factor-1 (SF-1) are present early in the AGP development process. (biomedcentral.com)
- Metabolic traits are another key factor, and they may trigger infertility, which can affect the normal development and function of the ovaries as well. (lidsen.com)
- Genital ambiguity occurs in 1 in 4,500 births, and ovotesticular disorder of sexual development occurs in fewer than 10% of all disorders of sexual development. (medscape.com)
Antibody2
- Finally, we utilized the leads to inform the evaluation of the neutralizing HIV-1 antibody elicited in SHIV-infected rhesus macaques broadly, RHA1.V2.01, which binds the apex from the Env trimer in a fashion that mimics the binding mode of PGT145. (epf2013.org)
- The immunohistochemistry was carried out on neutral buffered formalin-fixed paraffin-embedded tissue sections by using the monoclonal antibody of HIF-1α. (ijpmonline.org)
Regulation1
- By employing multiple genomic approaches, we defined different levels of regulation in transcriptome, miRNome and more recently on regulome exerted by SF-1 dosage. (endocrine-abstracts.org)
Cell1
- Our studies involving both cell lines and transgenic mouse studies showed that an increased SF-1 dosage activates adrenocortical cell proliferation and causes adrenocortical neoplasia. (endocrine-abstracts.org)
Fatty Acids1
- Diacylglycerols can have many different combinations of fatty acids attached at both the C-1 and C-2 positions. (hmdb.ca)
19841
- 1984 Aug;247(2 Pt 1):E173-80. (nih.gov)
Metabolic2
- Fig. 1: Main physiological and metabolic adjustments during gestation. (nature.com)
- The greatly increased prevalence of type 2 diabetes and some metabolic diseases closely related with the rapidly growing obesity epidemic around the world, which due to an energy imbalance caused by unhealthy lifestyles and nutrient overload [ 1 ]. (biomedcentral.com)