• Orthologous to human TAL1 (TAL bHLH transcription factor 1, erythroid differentiation factor). (nih.gov)
  • Immunohistochemistry for FOXL2 is used as a marker of sex cord-stromal differentiation. (bmj.com)
  • The SRY-box 4 (SOX4) gene, which is located on chromosome 6p22.3, encodes a 47-kDa protein that is a member of the sex-determining region Y-related high-mobility group-box transcription factor family and has functions in embryonic development and cell differentiation ( 3 , 4 ). (spandidos-publications.com)
  • The first three genes are markers of ovarian differentiation while the latter two genes are markers of testicular differentiation. (utexas.edu)
  • Chapter 3 identifies the gonad-specific promoter and the temperature-dependent DNA methylation signatures of the aromatase gene during gonadal differentiation. (utexas.edu)
  • High-resolution single-cell transcriptomics of ten mutant parasites portrays the developmental bifurcation and reveals a regulatory cascade of putative gene functions in the determination and subsequent differentiation of each sex. (gla.ac.uk)
  • The high-mobility group (HMG) domain is a DNA-binding motif that is shared abundant non-histone components of chromatin and by specific regulators of transcription and cell differentiation. (embl.de)
  • Transcription of the SRY gene (testis-determining factor region) on the Y chromosome ultimately leads to sex differentiation. (medscape.com)
  • Transcription factors (TFs) are critical for B-cell differentiation, affecting gene expression both by repres- sion and transcriptional activation. (lu.se)
  • the smaller Y chromosome carries genes that initiate male sex differentiation, as well as a few other genes. (msdmanuals.com)
  • A search of a 35-kilobase region of the human Y chromosome necessary for male sex determination has resulted in the identification of a new gene. (nih.gov)
  • The DMRT1 gene is located at the end of the 9th chromosome. (wikipedia.org)
  • When a DMRT1 gene is lost, the most common disease is chromosome 9p deletion, which causes abnormal testicular formation and feminization. (wikipedia.org)
  • Why this does not result in an imbalance in the expression of important genes on the X chromosome is what Asifa Akhtar and her colleagues from the Max Planck Institute of Immunobiology and Epigenetics in Freiburg have examined in collaboration with Nicholas Luscombe's laboratory at the European Bioinformatics Institute in Cambridge, UK. (mpg.de)
  • The scientists at the Max Planck Institute of Immunobiology and Epigenetics have now shown that the crucial factor in the double expression is the amount of polymerase II that is loaded onto the promoters of the male X chromosome. (mpg.de)
  • The scientists are therefore the first to have demonstrated why genes on the X chromosome in male fruit flies are transcribed more than their female counterpart. (mpg.de)
  • A large collection of 855 hop genotypes with known sex phenotypes, genotyping-by-sequencing, and genome wide association mapping revealed a highly significant marker on the sex chromosome (LOD score = 208.7) that predicted sex within our population with 96.2% accuracy. (usda.gov)
  • In mammals, whether an individual develops as a male or female depends on its sex chromosome constitution: those with a Y chromosome become males because of the development of the embryonic gonad into a testis. (plos.org)
  • In Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene ( TERT ), which is included in the deleted part of chromosome 5. (dorak.info)
  • Sex determination has been studied in multiple Salix and Populus (Salicaceae) species, and P. trichocarpa has an XY sex determination system on chromosome 19, while S. suchowensis and S. viminalis have a ZW system on chromosome 15. (doe.gov)
  • The FOXL2 (forkhead box L2) gene is located on chromosome 3 and encodes for forkhead box (FOX) family of transcription factors which play a critical role in various biological processes. (bmj.com)
  • My thesis research focuses on five candidate sex determining genes: cyp19a1 (aromatase), Forkhead box protein L2, R-spondin1, Doublesex mab3-related transcription factor 1, and Sex-determining Region on Y chromosome-box 9. (utexas.edu)
  • Sex exerts a profound impact on cancer incidence, spectrum and outcomes, yet the molecular genetic bases of such sex differences are ill-defined and presumptively ascribed to X-chromosome genes and sex hormones. (tmc.edu)
  • Integrated cross-species molecular and transcriptomic analyses identified Y-chromosome gene histone demethylase KDM5D as a transcriptionally up-regulated gene driven by KRAS*-mediated activation of the STAT4 transcription factor in cancer cells. (tmc.edu)
  • Thus, upregulation of Y chromosome KDM5D in cancer cells and immune cells collaboratively contributes to the sex differences in CRC via its disruption of cancer cell adhesion properties and regulation of tumor immunity, providing an actionable therapeutic strategy for metastasis risk reduction for men afflicted with KRAS* CRC. (tmc.edu)
  • The forkhead box L2 ( FOXL2 ) gene (OMIM#605597) was mapped to the BPES critical region on chromosome 3q23, and mutations in this gene were subsequently associated with both types of BPES. (ijbs.com)
  • Twenty-two of the pairs, chromosome numbers 1 to 22, the autosomes, are normally homologous (identical in size, shape, and position and number of genes). (msdmanuals.com)
  • Lyon hypothesis (X-inactivation) Sex chromosome abnormalities may involve aneuploidy, partial deletions or duplications of sex chromosomes, or mosaicism. (msdmanuals.com)
  • Sex chromosome abnormalities. (msdmanuals.com)
  • The genes that occupy the same locus on each chromosome of a pair (one inherited from the mother and one from the father) are called alleles. (msdmanuals.com)
  • A chromosome contains many genes. (msdmanuals.com)
  • Within the spectrum of DSD, there are varying degrees of discordant genitalia to sex chromosomes. (medscape.com)
  • The sex of many organisms is determined by the number of X chromosomes. (mpg.de)
  • Whereas mammals compensate by inactivating one of the two X chromosomes in females, what happens in fruit flies is that the genes on the X chromosomes of the males are doubly expressed. (mpg.de)
  • Dioecy has evolved numerous times in plants, but heteromorphic sex chromosomes are apparently rare. (doe.gov)
  • The fertilised egg inherits its DNA unchanged from the parents' sex chromosomes. (lu.se)
  • Genes are contained in chromosomes in the cell nucleus and mitochondria. (msdmanuals.com)
  • The 23rd pair, the sex chromosomes (X and Y), determines a person's sex as well as containing other functional genes. (msdmanuals.com)
  • Genes are arranged linearly along the DNA of chromosomes. (msdmanuals.com)
  • Each gene has a specific location (locus), which is typically the same on each of the 2 homologous chromosomes. (msdmanuals.com)
  • Some genes occur in multiple copies that may be next to each other or in different locations in the same or different chromosomes. (msdmanuals.com)
  • This protein regulates the activity of other genes by attaching (binding) to specific regions of DNA. (medlineplus.gov)
  • DMRT1 is a dose sensitive transcription factor protein that regulates Sertoli cells and germ cells. (wikipedia.org)
  • The TAL1/SCL transcription factor regulates cell cycle progression and proliferation in differentiating murine bone marrow monocyte precursors. (nih.gov)
  • Specificity Comments: SOX2 is required for stem cell maintenance in the central nervous system, and it also regulates gene expression in the stomach. (thermofisher.com)
  • In conclusion, our results indicate that DNA methylation regulates neurodevelopmental gene expression dynamics through steering transcription factor activity, but does not explain sexually dimorphic gene expression patterns in zebra finch telencephalon. (ugent.be)
  • The Y-linked sex determining gene SRY regulates this process by initiating a pathway of gene and protein expression, including the expression of critical autosomal genes such as SOX9 . (plos.org)
  • Given that the sex chromatin mostly is repressed during and after meiosis, it is remarkable that HSF1 directly regulates the transcription of sex-linked multicopy genes during postmeiotic repression. (abo.fi)
  • DNA methylation is a chemical process that regulates the function of the genes. (lu.se)
  • SOX2 is an intronless gene encoding a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. (thermofisher.com)
  • The role of DNA methylation on sex determination and development in zebrafish germ cells. (exeter.ac.uk)
  • Sex determination in mammals is controlled by the presence or absence of the Y-linked gene SRY . (plos.org)
  • Despite the requirement for a number of transcription factors and secreted signalling molecules in sex determination, intracellular signalling components functioning in this process have not been defined. (plos.org)
  • Here we report a role for the phylogenetically ancient mitogen-activated protein kinase (MAPK) signalling pathway in mouse sex determination. (plos.org)
  • These data demonstrate that MAP3K4-dependent signalling events are required for normal expression of Sry during testis development, and create a novel entry point into the molecular and cellular mechanisms underlying sex determination in mice and disorders of sexual development in humans. (plos.org)
  • TPD1-like Gene as a Suitable Marker for Early Sex Determination in Date Palm (Phoenix dactylifera L. (mdpi.com)
  • The SOX2 gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. (medlineplus.gov)
  • On the basis of this action, the SOX2 protein is called a transcription factor. (medlineplus.gov)
  • Some of these mutations prevent the gene from making any SOX2 protein, while others result in the production of an abnormally short, nonfunctional version of the protein. (medlineplus.gov)
  • Doublesex and mab-3 related transcription factor 1, also known as DMRT1, is a protein which in humans is encoded by the DMRT1 gene. (wikipedia.org)
  • The DNA marker is in a gene that is predicted to encode a transcription factor protein, which has been previously implicated in male sterility in a variety of plant species. (usda.gov)
  • This diagnostic marker is situated in a gene predicted to encode basic helix-loop-helix transcription factor protein, a family of proteins that have been previously implicated in male sterility in a variety of plant species, which may indicate a role in determining hop sex. (usda.gov)
  • Erb‑B2 receptor tyrosine kinase 4, centrosomal protein 55 (CEP55) and vascular endothelial growth factor A are oncogenes, all of which were associated with tumor stage, whereas only CEP55 was significantly associated with survival time as determined by Gene Expression Profiling Interactive Analysis. (urotoday.com)
  • In the developing male (XY) gonad, sex-determining region of the Y (SRY) protein acts to up-regulate expression of the related gene, SOX9 , a transcriptional regulator that in turn initiates a downstream pathway of testis development, whilst also suppressing ovary development. (plos.org)
  • The byg mutation is an A to T transversion causing a premature stop codon in the gene encoding MAP3K4 (also known as MEKK4), a mitogen-activated protein kinase kinase kinase. (plos.org)
  • This mutant, which we called boygirl ( byg ), was shown to contain an early stop codon that disrupts the autosomal gene encoding MAP3K4, a component of the mitogen-activated protein kinase (MAPK) signaling pathway. (plos.org)
  • In hypermobility type of Ehlers-Danlos syndrome , haploinsufficiency (where one copy is unable to produce the protein in sufficient quantity) due to a 30-kb deletion of tenascin-X (TNXB) gene is responsible for the disease. (dorak.info)
  • Streamlining Regulon Identification in Bacteria Regulons are a group of genes that can be turned on or off by the same regulatory protein. (doe.gov)
  • A male-determining gene with a LOTUS/OST-HTH domain as well as the protein interactors of a female-determining zinc-finger protein indicate that germ-granule-like ribonucleoprotein complexes complement transcriptional processes in the regulation of both male and female development of a malaria parasite. (gla.ac.uk)
  • Under developmental conditions, the Tubulin beta-1 chain (β-Tubulin) was the most stable reference gene, followed by translation elongation factor (eEF2) and ribosomal protein S3 (RPS3). (lu.se)
  • In addition, this indel mutation significantly increased StAR mRNA expression by disrupting the ability of the FOXL2 protein to bind to the StAR promoter and act as a repressor of this gene. (ijbs.com)
  • In the adult brain, as the functional activation of the NMDA receptor increases, beta-catenin (cadherin-associated protein, beta 1, 88 kDa, with the HUGO-approved official symbol of CTNNB1) forms a complex with lymphoid enhancer-binding factor-1/T cell factor (LEF1/TCF), 17 18 subsequently inducing the transcription of genes related to neural plasticity. (psychiatryinvestigation.org)
  • Mutations of this gene introduce a premature stop codon and result in truncated protein versions. (medscape.com)
  • A cardiomelic developmental field has also been postulated to relate the genetic heterogeneity of HOS (and other similar syndromes) to a cascade of molecules, including the brachyury, sonic hedgehog, bone morphogenetic protein, retinoic acid receptor, and transforming growth factor beta families. (medscape.com)
  • RefAuthors Lekstrom-Himes, J. A., Dorman, S. E., Kopar, P., Holland, RefAuthors S. M., Gallin, J. I. RefTitle Neutrophil-specific granule deficiency results from a RefTitle novel mutation with loss of function of the transcription RefTitle factor CCAAT/enhancer binding protein epsilon. (lu.se)
  • Even if the DNA sequence - the set of genes - is the same in all cells, only certain genes are expressed, i.e. only information from certain genes is copied (transcribed) and used to build protein structures or regulate processes. (lu.se)
  • The protein structure that surrounds the DNA, chromatin, largely comprises histone proteins and can be open or closed and thus allow or prevent factors binding to the DNA. (lu.se)
  • A gene, the basic unit of heredity, is a segment of DNA containing all the information necessary to synthesize a polypeptide (protein) or a functional RNA molecule. (msdmanuals.com)
  • A gene is a segment of DNA that provides the code to construct a protein or RNA molecule. (msdmanuals.com)
  • This gene is conserved and Y-specific among a wide range of mammals, and encodes a testis-specific transcript. (nih.gov)
  • This gene has been termed SRY (for sex-determining region Y) and proposed to be a candidate for the elusive testis-determining gene, TDF. (nih.gov)
  • Rat stem-cell leukemia gene expression increased during testis maturation. (nih.gov)
  • Our data indicate, for the first time, a requirement for MAPK signaling in the developing XY gonad in order to facilitate normal expression of SRY and the downstream testis-determining genes and also suggest that reduced dosage of MAP3K4 may be the cause of a previously described autosomal sex-reversing mutation in the mouse. (plos.org)
  • In search for HSF1 target genes, we identified 742 putative promoters in mouse testis. (abo.fi)
  • We use basic and clinical research to understand the cells, proteins, and genes that lead to successful recovery of function, and also how complications develop that impact quality of life after stroke. (stanford.edu)
  • HMG-box domains are found in one or more copies in HMG-box proteins, which form a large, diverse family involved in the regulation of DNA-dependent processes such as transcription, replication, and strand repair, all of which require the bending and unwinding of chromatin. (embl.de)
  • Many of these proteins are regulators of gene expression. (embl.de)
  • The discovery of the ' Yamanaka factors '-four transcription factors (Oct3/4, Sox2, c-Myc and Klf4), ), proteins that can reprogram a fully mature cell into an embryonic-like state-earned Kyoto University researcher Shinya Yamanaka a share of the Nobel prize in 2012. (scientificamerican.com)
  • Gene expression generally produces proteins, but there are also non-coding genes that produce RNA molecules (rRNA, tRNA). (lu.se)
  • Transcription factors are a group of proteins that are needed for a gene to start being copied to RNA, i.e. for transcription to start. (lu.se)
  • It is not only the genes that code for proteins that are methylated, but also parts of the DNA that code for regulatory functions (RNA molecules), which can have a greater effect than genes. (lu.se)
  • On the C57BL/6J background, embryos homozygous for byg exhibit consistent XY gonadal sex reversal. (plos.org)
  • We identified a mouse mutant that causes embryonic gonadal sex reversal: the development of ovaries in an XY embryo. (plos.org)
  • GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
  • This gene exhibits a gonad-specific and sexually dimorphic expression pattern, just like the related doublesex gene in fruit flies. (wikipedia.org)
  • SOX2 is necessary for regulating multiple transcription factors that affect Oct 3/4 expression. (thermofisher.com)
  • Multivariate analysis showed that VGLL3 expression status was an independent risk factor for prognosis. (researchgate.net)
  • not only can gene expression be manipulated and lineages traced at single-cell and whole-tissue levels, but complete population counts of all cell types are possible. (stanford.edu)
  • However, a strong association between DNA methylation and age-dependent gene expression was found for various transcription factors (i.e. (ugent.be)
  • Incomplete dosage compensation, independent of DNA methylation, was found to be largely responsible for sexually dimorphic gene expression, with dosage compensation increasing throughout life. (ugent.be)
  • However, how exactly this change in the chromatin structure facilitates the expression of X chromosomal genes by just a factor of two remains poorly understood. (mpg.de)
  • In so doing, they have gained an insight into the fundamental interaction between DNA structure and gene expression. (mpg.de)
  • We analyzed the encephalic and antennal expression patterns of the fruitless ( fru ) gene, which shows sex-specific alternative splicing conserved in various insect orders and has been thought to act as the master regulator of sexual behavior in male nervous systems. (springer.com)
  • Molecular genetic analysis of the switch-like regulation of daf-7 expression in the ASJ neuron pair reveals a hierarchy of regulation among multiple inputs-sex, age, nutritional status, and microbial environment-which function in the modulation of behavior. (elifesciences.org)
  • Our results suggest that regulation of gene expression in sensory neurons can function in the integration of a wide array of sensory information and facilitate decision-making behaviors in C. elegans . (elifesciences.org)
  • To identify a nuclear marker pathognomonic of astrocytic phenotype, we assessed differential RNA expression by FACS-purified adult astrocytes and, on that basis, evaluated the expression of the transcription factor SOX9 in both mouse and human brain. (jneurosci.org)
  • Transcriptome comparisons of SOX9+ cells with GLT1+ cells showed that the two populations of cells exhibit largely overlapping gene expression. (jneurosci.org)
  • The GSE46699, GSE36895, GSE53000 and GSE53757 gene datasets were downloaded from the Gene Expression Omnibus database and contained 196 ccRCC samples and 164 adjacent normal kidney samples. (urotoday.com)
  • The mRNA expression levels of CEP55 in ccRCC samples were significantly higher than those observed in adjacent normal kidney tissues based on The Cancer Genome Atlas data and reverse transcription‑polymerase chain reaction results. (urotoday.com)
  • High CEP55 expression was strongly associated with sex, histological grade, stage, T classification, N classification and M classification. (urotoday.com)
  • Univariate and multivariate Cox proportional hazards analyses demonstrated that CEP55 expression was an independent risk factor for poor prognosis. (urotoday.com)
  • In addition, gene set enrichment analysis indicated that high CEP55 expression was associated with immunization, cell adhesion, inflammation, the Janus kinase/signal transducer and activator of transcription signaling pathway and cell proliferation. (urotoday.com)
  • Analysis of embryonic XY gonads suggests that sex reversal is caused by delayed and reduced expression of the sex-determining gene SRY . (plos.org)
  • However, expression is not restricted to lesions harbouring FOXL2 mutations, and it is positive in a variety of sex cord-stromal proliferations other than adult-type granulosa cell tumour. (bmj.com)
  • miRNAs are small non-coding RNAs (~22 nucleotides in length) that regulate the expression of their target genes by translational repression or mRNA degradation ( 13 , 14 ). (spandidos-publications.com)
  • This suggests that exogenous ligands modify gonadal trajectory by re-directing (suppression and activation) the expression of candidate genes. (utexas.edu)
  • An ectotherm's thermal tolerance is determined by both fixed genetic factors and plastic changes in behavior, morphology, physiology, and gene expression. (frontiersin.org)
  • Conditional translational repression: a core regulatory mechanism of gene expression during development of the malaria parasite. (gla.ac.uk)
  • Gene expression studies could be considered as one of the key experimental approaches for such purposes. (lu.se)
  • A suitable reference gene selection is fundamental for quantitative gene expression analysis and functional genomics studies in I. sexdentatus. (lu.se)
  • Twelve commonly used reference genes in Coleopterans were screened under different experimental conditions to obtain accurate and reliable normalization of gene expression data. (lu.se)
  • In contrast, different sets of genes were shown higher stability in terms of expression under tissue-specific conditions, i.e. (lu.se)
  • The findings were validated further using real-time quantitative reverse transcription PCR (RT-qPCR)-based target gene expression analysis. (lu.se)
  • Nevertheless, the present study delivers a catalog of reference genes under varied experimental conditions for the coleopteran forest pest I. sexdentatus and paves the way for future gene expression and functional genomic studies on this species. (lu.se)
  • Moreover, a correlational analysis between GINS1 expression and CD8+ T immune cells and a the construction of gene-drug interaction network was performed using TIMER, CDT, and Cytoscape. (bvsalud.org)
  • Secondly, do we observe changes in gene expression patterns and astrocyte physiology in the brains of these mice? (duke.edu)
  • We then plan to isolate RNA from frontal and parietal cortical astrocytes in order to analyze gene expression patterns through quantitative real-time PCR. (duke.edu)
  • Klf4 is the other gene among Yamanaka's four transcription factors, and increases in its expression are induced by stimulation of the canonical Wnt pathway. (psychiatryinvestigation.org)
  • We compared the peripheral blood gene expression of the four iPS genes ( Oct4 , Sox2 , c-Myc , and Klf4 ) before and after modified ECT (specifically ECT with general anesthesia) of patients with intractable depression (n=6) or schizophrenia (n=6). (psychiatryinvestigation.org)
  • Expression of all four genes was confirmed to increase after initial stimulation. (psychiatryinvestigation.org)
  • 23 24 25 Regarding the LIF gene ( leukemia inhibitory factor GeneID: 3976 ), which is located upstream of Klf4, stimulation along the canonical Wnt pathway induced an increase in LIF expression. (psychiatryinvestigation.org)
  • This is not surprising given the strong evidence for interaction between myelin and axon gene expression in development and after experimental nerve lesions. (medscape.com)
  • Consequent abnormal expression of the cardiac and limb-specific T-box transcription factors lead to the malformations described in HOS. (medscape.com)
  • Today we use epigenetics to mean changes to gene expression that are not caused by changes in the actual DNA sequence. (lu.se)
  • The gene expression varies between different types of cell and when these epigenetic changes are inherited by daughter cells through cell division in the womb, different tissues and organs are built. (lu.se)
  • Gene expression is the process of several steps through which the information in a gene's DNA sequence is transferred to the structures and functions of a cell. (lu.se)
  • Transcription factors bind alongside the promoter and set off the gene expression. (lu.se)
  • In the last decade, diagnostic and prognostic evaluation has been facilitated by global gene expression profiling (GEP), provid- ing a new powerful means for the classification, prediction of survival, and response to treatment of lym- phomas. (lu.se)
  • The identified transcription factors influence both the global and specific gene expression of the BCLs and have possible implications for diagnosis and treat- ment. (lu.se)
  • At least 33 mutations in the SOX2 gene have been found to cause SOX2 anophthalmia syndrome. (medlineplus.gov)
  • SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. (medlineplus.gov)
  • Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. (medlineplus.gov)
  • The SOX2 gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). (thermofisher.com)
  • Mutations in the SOX2 gene have been associated with bilateral anophthalmia, a severe form of structural eye malformation, optic nerve hypoplasia and syndromic microphthalmia. (thermofisher.com)
  • Mechanistic studies revealed sex-determining region Y-box 2 (SOX2), a self-renewal associated transcription factor, as a key driver of FSC acquisition and fibrogenesis. (cdc.gov)
  • The knockdown of SOX2 by gene silencing abrogated the fibrogenic and FSC-inducing effects of CNTs. (cdc.gov)
  • Chromatin immunoprecipitation assays identified SOX2-binding sites on COL1A1 and COL1A2, indicating SOX2 as a transcription factor in collagen synthesis. (cdc.gov)
  • Three genes ( Oct4 , Sox2 , c-Myc ) involved in the induction of induced pluripotent stem (iPS) cells are Wnt-target genes, which constitute a key gene group involved in neural plasticity through the TCF family. (psychiatryinvestigation.org)
  • Life Biosciences, a startup co-founded by David Sinclair, is exploring the regenerative capacity of three Yamanaka factors (Oct4, Sox2 and Klf4). (scientificamerican.com)
  • To the best of our knowledge, HSF1 is the first known transcription factor found at the repressed sex chromatin during meiosis. (abo.fi)
  • All of these mutations disrupt the protein's ability to regulate genes essential for normal development of the eyes and other parts of the body. (medlineplus.gov)
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • For over a century, mutations in the yellow gene, named for its effects on pigmentation, have been known to reduce male mating success. (elifesciences.org)
  • Geneticists have long suggested that mutations in insect pigment genes cause changes in the fly's brain because these pigments are made from dopamine, a chemical messenger that acts in the brain. (elifesciences.org)
  • Indel mutations in the forkhead box L2 (FOXL2) gene cause two types of BPES that are distinguished by the presence (type I) or absence (type II) of premature ovarian failure (POF). (ijbs.com)
  • Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)
  • [ 6 ] However, the gene mutations responsible for the different forms of CMT1 are clearly myelin genes. (medscape.com)
  • [ 2 , 3 , 4 ] A full list of the described mutations is available at the TBX5 Gene Mutation Database , an online locus-specific database that contains germline and somatic mutations of the TBX5 gene. (medscape.com)
  • On specific genetic backgrounds, some alleles cause partial or complete sex-reversal of chromosomally XY mice. (jax.org)
  • In this article, we'll take a closer look at pleiotropic genes and lethal alleles, seeing how these variations on Mendel's rules fit into our modern understanding of inheritance. (khanacademy.org)
  • Importantly, alleles of pleiotropic genes are transmitted in the same way as alleles of genes that affect single traits. (khanacademy.org)
  • However, this is not the case for all genes and all alleles. (khanacademy.org)
  • Physiology of gut carbonate production by marine fish - roles of hypoxia and sex hormones. (exeter.ac.uk)
  • The yellow flies had a mutation in one specific gene and these mutants did not only look different from normal flies, they behaved differently too. (elifesciences.org)
  • A human genetic disorder called Marfan syndrome is caused by a mutation in one gene, yet it affects many aspects of growth and development, including height, vision, and heart function. (khanacademy.org)
  • These symptoms don't seem directly related, but as it turns out, they can all be traced back to the mutation of a single gene. (khanacademy.org)
  • Based on the patients' clinical manifestations and analysis of the identified indel mutation, we found that the mutation disturbed interactions between FOXL2 and the StAR gene. (ijbs.com)
  • Furthermore, this novel mutation resulted in the dysfunction of FOXL2 as a transcription factor, blocking its ability to bind to the promoter region of the StAR gene, resulting in POF in the affected patient. (ijbs.com)
  • The marker, when tested using DNA from a new population with known sex phenotypes, was 96% accurate. (usda.gov)
  • In this way, the seemingly unrelated phenotypes can be traced back to a defect in one gene with several jobs. (khanacademy.org)
  • We show that, during embryonic devel-opment, the extramacrochaetae gene is expressed in complex patterns that comprise derivatives of the three embryonic layers. (biologists.com)
  • The Yamanaka factors that can reprogram cells into their embryonic-like state are at the heart of longevity research. (scientificamerican.com)
  • The finding, described in 2006, transformed stem cell research by providing a new source of cells that resemble embryonic stem cells, which are able to give rise to any type of specialized cell in the body except sex cells. (scientificamerican.com)
  • The T-box gene family is a group of related genes that play a critical role in human embryonic development. (medscape.com)
  • and regulation of transcription by RNA polymerase II. (nih.gov)
  • Gene transcription begins with the enzyme RNA polymerase II, which binds to the promoter of a DNA string and thus transcribes the genetic information from it. (mpg.de)
  • The more polymerase II that binds to the promoter, the higher the frequency of transcription," explains Akhtar. (mpg.de)
  • CoV was detected by using nested reverse transcription PCR (RT-PCR) targeting the RNA-dependent RNA polymerase ( RdRp ) gene ( 12 ) (see Table 1 for assay oligonucleotides). (cdc.gov)
  • The results of a reverse transcription‑quantitative polymerase chain reaction analysis demonstrated that miR‑320 was frequently downregulated in breast cancer tissues compared with adjacent normal tissues. (spandidos-publications.com)
  • The whole coding sequence and nearby 5' untranslated region (UTR) and 3'UTR of the FOXL2 gene were amplified using polymerase chain reaction (PCR) with three sets of overlapping primers, followed by sequencing analyses. (ijbs.com)
  • To increase the proportion of pregnant women with Zika virus infection who receive a definitive diagnosis, CDC recommends expanding real-time reverse transcription-polymerase chain reaction (rRT-PCR) testing. (cdc.gov)
  • The study reveals the importance of scientists considering that genes that affect behavior may do so by changing anatomy rather than by altering the brain. (elifesciences.org)
  • This means that these animals offer the opportunity to explore and understand sex-specific differences in behavior. (elifesciences.org)
  • It is also possible to analyze the underlying factors that contribute to behavior in C. elegans , because it has a relatively simple and well-defined nervous system. (elifesciences.org)
  • Decoding the signals behind this process may illuminate how biological sex and internal states influence behavior in other species of animals. (elifesciences.org)
  • Additionally, building on the sex differences in NDD pathology observed in my mentor's previous work, we plan to use the forced-swim test to measure depressive behavior in DEP/MS mice. (duke.edu)
  • Human FOXL2 is an important member of the forkhead transcription factor family. (ijbs.com)
  • Bioinformatics analysis was used to integrate the four microarray datasets to identify and analyze differentially expressed genes. (urotoday.com)
  • 59/99 for heat), and overall GWAS candidates were more likely to be differentially expressed than other genes. (frontiersin.org)
  • Most organisms have developed a strategy for making sure that the X chromosomal genes, which are important for both sexes, are properly transcribed. (mpg.de)
  • Among them, the sex chromosomal multicopy genes that are expressed in postmeiotic cells were occupied by HSF1. (abo.fi)
  • Hilbert and Kim showed that the biological sex in combination with multiple other inputs - including the animal's past diet and age - regulate how the DAF-7 signal is expressed in C. elegans . (elifesciences.org)
  • the cell may regulate the transcription of individual genes through regulatory molecules (ex. (powershow.com)
  • SOX genes encode putative transcriptional regulators implicated in the decision of cell fates during development and the control of diverse developmental processes. (thermofisher.com)
  • and regulation of transcription, DNA-templated. (nih.gov)
  • Further, several GWAS candidates were regulatory genes that may participate in the regulation of stress responses, and gene ontologies related to development and morphogenesis were enriched, suggesting many of these genes influence thermal tolerance through effects on development and physiological status. (frontiersin.org)
  • These genes similarly contain sequences that encode for the HMG-box domain, which is responsible for the sequence-specific DNA-binding activity. (thermofisher.com)
  • Some are involved in human diseases, including sex reversal. (thermofisher.com)
  • Finally, we provide evidence that haploinsufficiency for Map3k4 accounts for T-associated sex reversal ( Tas ). (plos.org)
  • The yellow males lack melanin pigments in their sex combs, which changes their structure. (elifesciences.org)
  • The roundworm Caenorhabditis elegans has two sexes, hermaphrodites and males. (elifesciences.org)
  • A molecular marker, or a known DNA sequence associated with a specific plant trait, in this case sex, can aid breeders in making selections prior to observing the trait visually. (usda.gov)
  • Previous work to develop a sex-linked marker in hop have suffered from low-scalability and limited transferability across populations. (usda.gov)
  • We used a large collection of 855 hop lines with known sex, genotyping by sequencing data, and association mapping and identified a highly significant marker associated with plant sex that was predictive 96.2% of the time. (usda.gov)
  • Without a diagnostic marker, breeding programs may spend one to two years determining the sex of new seedlings. (usda.gov)
  • Chapters 1 and 2 examine how exogenous steroid ligands interact with candidate genes as the gonads differentiate into testes or ovaries. (utexas.edu)
  • The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes, and is found to be the key sex-determining factor in chickens. (wikipedia.org)
  • without this gene the female characteristic takes over and male characteristic is slight or non-existent. (wikipedia.org)
  • Here, we rule out these explanations, as well as effects on the nervous system more generally, and find instead that the effects of yellow on male mating success are mediated by its effects on pigmentation of male-specific leg structures called sex combs. (elifesciences.org)
  • This is done by means of the dosage compensation complex, which reduces the tightness of the male X chromosome's packaging, thereby making it especially easy for transcription factors to access. (mpg.de)
  • Prior to flowering male and female plants are visually indistinguishable and breeders typically wait 1-2 years for plants to mature to determine plant sex by observing floral structures. (usda.gov)
  • Little is known about how these sex-specific differences are generated or, for example, how different the nervous system of a male is to that of a female. (elifesciences.org)
  • The sensory neurons that release DAF-7 are found in both sexes of C. elegans but the specific way that the male worms express this signal encourages them to search for mates. (elifesciences.org)
  • I want to see natural sex enhancement pills master of your family Who are you, if you keep your mouth shut, you will see our young master That does XTend male enhancement really work young master meet casually? (jewishledger.com)
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  • Using a global screen of barcoded mutants, we here identify genes essential for the formation of either male or female sexual forms and validate their importance for transmission. (gla.ac.uk)
  • Most people with OT-DSD are given a male sex assignment at birth but develop breasts at puberty or later. (medscape.com)
  • These results also have utility for directly comparing GWAS and transcriptomic approaches for identifying candidate genes associated with thermal tolerance. (frontiersin.org)
  • to find regulatory genes of the achaete-scute complex (AS-C). The AS-C comprises four proneural genes that confer to cells the ability to become neuroblasts or sensory organ mother cells ( Campuzano and Modolell, 1992 , review). (biologists.com)
  • Moreover, it is also poorly understood how these underlying differences based on the biological sex of an animal are integrated with and influenced by its experiences and environment. (elifesciences.org)
  • How the physical signal of temperature is transduced into a biological signal that ultimately results in determining gonad sex is not known. (utexas.edu)
  • Exploring the Biological Contributions to Human Health: Does Sex Matter? (nationalacademies.org)
  • Studies of the cells and genes of the nematode C. elegans have become a cornerstone of current biology. (cshlpress.com)
  • ABSTRACT This study aimed to evaluate the association of plasma MIF level and -173 G/C single nucleotide polymorphism of the MIF gene with the occurrence, severity and mortality of sepsis patients. (who.int)
  • Such sex differences are particularly prominent in colorectal cancer (CRC) where men experience higher metastases and mortality. (tmc.edu)
  • This is the latest in a recent surge of investment in ventures seeking to build anti-aging interventions on the back of basic research into epigenetic reprogramming (modifying chemical marks on DNA to turn genes on or off). (scientificamerican.com)
  • Epigenetic changes also take place throughout our lives as a result of normal ageing, lifestyle and environmental factors. (lu.se)
  • Because epigenetic changes are essentially reversible - unlike genetic changes - the starting point for the search for drugs is that epigenetically inactivated genes can be reactivated (and vice versa) if only the right molecule is added. (lu.se)
  • Most single gene disorders can be investigated by prenatal diagnosis using DNA extracted from cells obtained from amniocentesis at 16-18 weeks' gestation or chorionic villus sampling (CVS) at about 10-12 weeks' gestation. (dorak.info)
  • Without the SRY gene, the gonad would develop into an ovary. (medscape.com)
  • In single gene disorders (as opposed to multifactorial-complex disorders), the mutation's population frequency is low, its penetrance is high, and the contribution of environment is lower with notable exceptions of PKU and few others. (dorak.info)
  • Genes affected in human genetic disorders are often pleiotropic. (khanacademy.org)
  • Here, using the model species Drosophila melanogaster , we used a combination of Genome Wide Association mapping (GWAS) and transcriptomic profiling to characterize whether genes associated with thermal tolerance are primarily involved in dynamic stress responses or preparatory processes that influence physiological condition at the time of thermal stress. (frontiersin.org)
  • The function of the Drosophila extramacrochaetae ( emc ) gene has been characterized almost exclusively in relation to the pat-terning of the fly's sensory organs (chaetae and other types of sensilla). (biologists.com)
  • The experiments showed that yellow fruit flies mated poorly not because of changes in their brain but because of changes in specialized structures on their legs called sex combs. (elifesciences.org)
  • This explains why yellow flies often fail to mate and why fruit flies have sex combs in the first place. (elifesciences.org)
  • Heat shock factor 1 (HSF1) is an important transcription factor in cellular stress responses, cancer, aging, and developmental processes including gametogenesis. (abo.fi)
  • So-called partial reprogramming consists of applying Yamanaka factors to cells for long enough to roll back cellular aging and repair tissues but without returning to pluripotency in which a cell can specialize into other cell types. (scientificamerican.com)
  • Defective testicular development and XY feminization occur when this gene is hemizygous. (wikipedia.org)
  • Thus, the knockout model shows that loss of the DMRT1 gene is associated with incomplete germ cell development leading to infertility, abnormal testicular formation, and/or feminization of the affected individual. (wikipedia.org)