Autosome gene dosage compensation genetic. Medical search. Frequent questions

Because male flies have a single X chromosome and female flies have two X chromosomes, the higher level of activation in males ensures that X chromosome genes are overall expressed at the same level in males and females. (wikipedia.org)
X hyperactivation is one mechanism of dosage compensation, whereby organisms that use genetic sex determination systems balance the gene dosage from the sex chromosomes between males and females. (wikipedia.org)
The gene was named sex-lethal due to its mutant phenotype which has little to no effect on male flies but results in the death of females due to X hyperactivation of the two X chromosomes. (wikipedia.org)
These chromosomes also contain the genetic codes for the production of essential proteins, and the disproportion in chromosomes in XY individuals caused by them carrying only a single X for every pair of non-sex chromosomes (called autosomes) can lead to an imbalance in the production of proteins. (newswise.com)
Sex chromosome dosage compensation comes into play for individuals who have mismatched sex chromosomes. (newswise.com)
The Z chromosomes contain instructions for some of the proteins normally functioning cells should produce, and having only a single copy of a chromosome can result in a reduced amount of proteins produced, because protein production is often affected by the number of gene copies. (newswise.com)
But SCDC mechanisms work to upregulate, or increase the level, of protein production from genes in the single Z (or X) chromosomes. (newswise.com)
The researchers then compared the activity of genes from sex chromosomes and from autosomes, broken down by male and female turtles. (newswise.com)
In species with highly heteromorphic sex chromosomes, the degradation of one of the sex chromosomes can result in unequal gene expression between the sexes (e.g., between XX females and XY males) and between the sex chromosomes and the autosomes. (asu.edu)
Dosage compensation is a process whereby genes on the sex chromosomes achieve equal gene expression which prevents deleterious side effects from having too much or too little expression of genes on sex chromsomes. (asu.edu)
Comparative genomics analyses were used to infer additional X-linked loci in the green anole, RNAseq data from male and female samples were anayzed to quantify patterns of sex-biased gene expression across the genome, and the extent of dosage compensation on the anole X chromosome was characterized, providing evidence that the sex chromosomes in the green anole are dosage compensated. (asu.edu)
Contributing to the sex differences in gene expression between males and females are the sex chromosomes, X and Y. Gene expression differences on the autosomes and the X chromosome between males (46, XY) and females (46, XX) may help inform on the mechanisms of sex differences in human health and disease. (asu.edu)
Since the sex chromosomes carry genetic instructions for traits that go beyond gender determination, a process -- called dosage compensation -- evolved to ensure that the X chromosomes in males and females are expressed at the same level. (sciencedaily.com)
In male fruit flies (Drosophila), the expression -- or activity -- of genes on most of the single X chromosomes is doubled to match the expression of the two X chromosomes in female cells. (sciencedaily.com)
That complex doesn't exist in germ cells, so it was assumed that dosage compensation occurred in those cells by some other mechanism," said lead author Colin Meiklejohn, "We showed there is no upregulation of X chromosomes in the testes of flies. (sciencedaily.com)
Autosomes can be described as the non-sex chromosomes that play diverse roles in the human body like harboring genes for the body's metabolism, functioning, and growth. (biologyonline.com)
An autosome is defined as any chromosome other than the sex chromosomes . (biologyonline.com)
Human autosomes , the non-sex human chromosomes, are integral components of the human genome . (biologyonline.com)
These chromosomes play a pivotal role in various aspects of human development, including metabolic pathways, cellular homeostasis , and genetic disorders. (biologyonline.com)
The human genome is composed of 23 pairs of chromosomes, with autosomes (22 pairs) comprising the majority. (biologyonline.com)
My research has focused on the integration of these chromosomes to build comprehensive analyses of human history and utilizing an evolutionary approach to characterize sex-bias in gene expression. (grantome.com)
In collaboration with anthropologists, who are studying, cultural variation, we will assess how genetically diverse individuals are, and use patterns of variation across the sex chromosomes and autosomes to infer recent and ancient demography in these populations. (grantome.com)
Gender is determined by sex chromosomes , while all the other chromosomes are called autosomes . (drwile.com)
Thus, your sex chromosomes are like your autosomes in the sense that they come in a pair, and the pair is perfectly matched. (drwile.com)
Later on, some evolutionary process had to eventually produce sex chromosomes from autosomes so that sexual reproduction could evolve. (drwile.com)
Well, both of the chromosomes in each autosome pair are fully active, producing proteins over and over again. (drwile.com)
If sex chromosomes evolved from autosomes, then, something must have happened to make the the X chromosome genes expressed twice as much as the genes on any single autosome. (drwile.com)

X hyperactivation refers to the process in Drosophila by which genes on the X chromosome in male flies become twice as active as genes on the X chromosome in female flies. (wikipedia.org)
In male Drosophila, there isn't enough sex-lethal to activate the female-specific splicing of the sex-lethal gene, and it goes through the "default" splicing. (wikipedia.org)
Natural selection occurs efficiently in Drosophila so the genes that are dosage-sensitive are increased. (wikipedia.org)
Drosophila females are larger than males and a central gene of the sex-determination pathway, transformer (tra), contributes to this difference. (genestogenomes.org)
Keller Valsecchi CI, Basilicata MF, Semplicio G, Georgiev P, Gutierrez NM and Akhtar A (2018) Facultative dosage compensation of developmental genes on autosomes in Drosophila and mouse embryonic stem cells . (imb-mainz.de)

In addition, X-linked genes have a lower ratio of nonsynonymous to synonymous substitution rates than the autosomes when compared to other Anolis species, and pairwise rates of evolution in genes across the anole genome were analyzed. (asu.edu)
Having both a maternal and paternal copy of the genome is extremely important, as mutations that disrupt gene copy number often result in miscarriage or severe genetic disorders. (imb-mainz.de)
This diagram shows in true scale the gene on the genome, the mRNAs and the cDNA clones. (nih.gov)
Sex-bias exists in the human genome in DNA content and gene expression. (grantome.com)
Second, we will study truly genome-wide patterns of variation (autosomes, X chromosome, Y chromosome, and mtDNA) among multiple populations in Kenya. (grantome.com)
is it a wonder that our genome too is filled with the remains of extinct genes? (drwile.com)

Thus, unevenness in the number of copies of genes that work together can lead to developmental, physiological or other disorders. (newswise.com)
We study the causes and consequences of gene dosage alterations and their impact on developmental, evolutionary and ageing processes. (imb-mainz.de)
RNA-seq analysis of embryos indicate that in Hat1 mutants over 2000 genes are dysregulated and the observed transcriptional changes imply a delay in the developmental program of gene expression (Varga, 2019). (sdbonline.org)

The X chromosome, compared to an autosomal gene, contains more silent genes which influences measuring the amount of influence active genes have. (wikipedia.org)
Autosomal dominant disorders like Huntington's disease or Marfan syndrome result from mutations in a single copy of an autosomal gene. (biologyonline.com)
Autosomal recessive disorders like cystic fibrosis or sickle cell anemia require both copies of an autosomal gene to be mutated for the disorder to manifest. (biologyonline.com)

The theory yields new predictions about the genetic architecture of local adaptation, and the genomic basis of evolutionary differentiation between populations of geographically widespread species. (genestogenomes.org)
But the researchers say their findings shed light on the evolutionary role of sex chromosome dosage compensation in many species. (scitechdaily.com)
When evolutionary change of nucleons occurs mainly by mutation and genetic drift, all the measures can be expressed in terms of the product of mutation rate per nucleon and effective population size. (typeset.io)

They are consistent with an absence of dosage compensation of the X chromosome during the male meiotic prophase. (biomedcentral.com)

This means that section of the gene that is spliced out in females remains in males. (wikipedia.org)
The msl gene complex was named due to the loss-of-function mutant that results in the improper increase in the male transcription rate that results in the death of males. (wikipedia.org)
In males, the absence of the necessary amount of sex-lethal allows for the increase in the male transcription rate due to the msl gene complex no longer being inhibited. (wikipedia.org)
Then, the hyperactivated X chromosome facilitates the inversion of the aneuploidy effect to create a gene expression equality between males and females. (wikipedia.org)
In addition to balancing X-chromosome dosage between males and females via X-inactivation, mammals also balance dosage of Xs and autosomes. (harvard.edu)
However, gene expression is not uniform among individuals and varies greatly between genetic males and females. (asu.edu)
For example, XX females are more likely to suffer from autoimmune diseases, and genetic XY males are more likely to develop cancer. (asu.edu)
Caenorhabditis elegans gene him-8 , high Incidence of Males, encoding HIM-8 like family member. (nih.gov)
These studies suggested that the genes on the only active X chromosome in both males and females were expressed as much as the genes on the autosomes. (drwile.com)

We propose that GLP-1/Notch promotes reprograming by activating specific genes, silenced by the Polycomb repressive complex 2 (PRC2), and identify the conserved histone demethylase UTX-1 as a crucial GLP-1/Notch target facilitating reprograming. (scite.ai)
Genetic interaction assays demonstrated that JIL-1 functions in vivo in a pathway that includes Su(var)3-9 , which is a major catalyst for dimethylation of the histone H3K9 residue, HP1 recruitment, and the formation of silenced heterochromatin. (silverchair.com)

The second dosage compensation that occurs in mammals are the balancing of X's and autosomes. (wikipedia.org)
Dosage compensation in mammals occurs at two levels. (harvard.edu)
Dosage compensation occurs differently from one species to the next. (sciencedaily.com)
Scientists have believed that the process of dosage compensation occurs in all cells of the male fruit fly. (sciencedaily.com)

This produces a positive feedback loop as the sex-lethal protein splices the sex-lethal gene to produce more of the sex-lethal protein. (wikipedia.org)
In females, the sex-lethal protein inhibits the male-specific lethal (msl) gene complex that would normally activate X-linked genes that result in an increase in the male transcription rate. (wikipedia.org)
This, of course, would indicate that the single active X chromosome is producing twice as much protein as any single autosome. (drwile.com)
A reporter gene codes for a protein that can be tracked, such as a protein with a known enzymatic activity or one that is fluorescent. (jove.com)
One of the well-known reporter genes is one that encodes for a protein called green fluorescent protein - or GFP. (jove.com)
Reporter genes are a type of protein-coding gene that are often tagged to a gene of interest. (jove.com)
Thus, reporter genes "report" the presence or absence of genes of interest in an organism, determine the gene expression pattern, or track the physical location of a DNA segment or protein in the cell. (jove.com)
Commonly used reporter genes are - GFP (green fluorescent protein gene), lacZ (β- galactosidase gene), RFP (red fluorescent protein gene), and Luc (luciferase gene). (jove.com)

Fueled by rapid technological innovations, the ability of geneticists to assay accurately not only genetic data but also gene expression levels, epigenetic markers, biomarker levels and microbiome composition has expanded the field of human genetics vastly. (biomedcentral.com)
Michael Snyder (Stanford University, USA) gave an update on the Personal 'Omics' Profiling project, which is now assaying levels of gene expression, microbiome composition, DNA methylation and multitudinous biomarkers in over 70 individuals, including during experimental perturbations such as controlled weight gain. (biomedcentral.com)
The regulation of gene expression, timing, location, and amount of a given project, ultimately affects the cellular structure and function. (asu.edu)
Characterizing sex-specific gene expression among human tissues will help inform the molecular mechanisms driving sex differences in human health and disease. (asu.edu)
This dissertation covers a range of critical aspects in gene expression. (asu.edu)
In chapter 2, I characterize gene expression in an early formed tissue, the human placenta. (asu.edu)
A complex of proteins called the dosage compensation complex is responsible for upregulating gene expression in somatic (non-reproductive) cells. (sciencedaily.com)
Understanding the role and significance of autosomes in human genetics is crucial for uncovering the complex interplay of genes, their expression, and their impact on health and disease. (biologyonline.com)
Furthermore, the CES-2-like basic region leucine-zipper (bZip) transcription factor ATF-2, an upstream modulator of the core apoptotic cell death pathway, is able to directly regulate the expression of at least two key autophagy-related genes, bec-1/ATG6 and lgg-1/ATG8. (scite.ai)
Third, we will study gene expression variation (with an emphasis on X-linked gene expression and X-inactivation) between the sexes, and between populations in the human placenta. (grantome.com)
Because of this, Ohno suggested that during evolution, the expression of genes on the X chromosome was boosted by a factor of 2. (drwile.com)
They show that the expression of genes coming from the X chromosome in mice and people is (on average) half as much as the expression of genes coming from any autosome pair. (drwile.com)
The pattern and timing of gene expression can be determined by creating recombinant DNA with a reporter gene under the control of a cis -regulatory sequence of interest and introducing it into cells or an organism. (jove.com)
So, by monitoring the expression of the reporter gene, a scientist can track where the gene of interest is being expressed. (jove.com)
For example, to study the expression of β-tubulin in C. elegans , the coding sequence of the β-tubulin gene was replaced by the gfp gene. (jove.com)
The gfp gene expression is now under the control of the promoter for the β-tubulin gene. (jove.com)

The study sheds light on how organisms have evolved to address such imbalances through a process called sex chromosome dosage compensation, or SCDC. (newswise.com)

Understanding the diversity of SCDC mechanisms in nature, how they happen and evolve, informs more broadly on how animals and humans compensate for gene dose imbalance, and why the failure to properly compensate for these differences leads to disease states," Valenzuela said. (newswise.com)
The project's accomplishments in cataloging human variation and pioneering methods for storing, sharing and analyzing massive genetic datasets have been substantial, and the latest phase of analysis presented by Abecasis provided a stunning overview of genetic variation in humans. (biomedcentral.com)
So, we can't say that autosomes have no role in phenotypic sex determination in humans because they play an integral and indispensable role! (biologyonline.com)

Further, our research supports the theory that the human dosage-compensation mechanism via X- inactivation, evolved step-wise, in a gene-by-gene specific manner on the X chromosome in response to loss of functional Y-linked genes. (grantome.com)

The dosage-sensitive genes vary from species to species. (wikipedia.org)

More broadly, gene regulation is the basis for cellular differentiation and development. (asu.edu)
Autosomes are essential for maintaining cellular homeostasis. (biologyonline.com)
Disruptions in autosomal genes involved in cellular homeostasis can lead to electrolyte imbalances, impaired cell signaling , and malfunctioning cellular processes. (biologyonline.com)
Our team is interested in the fundamental mechanisms and physiological relevance of gene copy number for regulating cellular function in eukaryotes. (imb-mainz.de)

Another notable development was the emphasis on crowd-sourcing approaches to data collection, and Yaniv Erlich (Whitehead Institute, USA) kicked off a compelling session on the increasing role of these approaches for gathering genetic and phenotypic data in large samples. (biomedcentral.com)
An important point to note here is that certain autosomes do play a role in phenotypic sex determination! (biologyonline.com)

To better understand the role of nm23 genes in cell migration, we investigated the function of NDK-1, the sole Caenorhabditis elegans homolog of group I NDPKs in distal tip cell (DTC) migration. (scite.ai)
Here, we show in the nematode Caenorhabditis elegans, that various genetic and pharmacological interventions causing embryonic lethality trigger a massive cell death response that has both autophagic and apoptotic features. (scite.ai)

X hyperactivation is regulated by the alternative splicing of a gene called sex-lethal. (wikipedia.org)

By escaping dosage compensation, Myc confers a growth advantage to females. (genestogenomes.org)

Nevertheless, gene flow constrains population differentiation, and may influence the genetic architecture of locally adapted phenotypes. (genestogenomes.org)
Genomic analyses are crucial for a comprehensive picture of sex chromosome differentiation and dosage compensation, in addition to understanding speciation. (asu.edu)

Higher order chromatin structure is important for epigenetic regulation and control of gene activation and silencing. (silverchair.com)

Consisting of 22 pairs, autosomes carry a wealth of genetic information that governs numerous biological processes. (biologyonline.com)
People, for example, have 22 pairs of autosomes. (drwile.com)

Figure 2: SOX9 gene on the autosome 17 (long arm) plays an integral role in gonadal sex determination. (biologyonline.com)

The authors present a novel method that resolves both of these issues for simultaneous association testing of genetic variants that have both case status and a clinical covariate. (genestogenomes.org)
Wild type, mutant and heterozygote for variants of such genes differ in the catalytic activity at the step in the enzyme network specified by the gene in question. (typeset.io)

Nov. 18, 2020 Researchers have discovered how the MSL complex responsible for dosage compensation can distinguish the X chromosome from autosomes in flies. (sciencedaily.com)
Researchers use reporter genes to determine when and where a gene of interest is expressed. (jove.com)

Research evidence indicates that a gene (i.e. (biologyonline.com)

Biologists have discovered that dosage compensation does not occur in the reproductive cells of male fruit flies. (sciencedaily.com)

This year, the sophistication of the analysis methods employed was striking, particularly for drawing inferences from subtle differences in human genetic variation. (biomedcentral.com)

We identify genetic subpopulations with transcriptional signatures relevant to tumor progression and therapy resistance. (pklab.org)

The absence of H4K16ac suggests that dosage compensation does not take place. (biomedcentral.com)

develop new models that explicitly quantify the roles of the X chromosome and autosomes in adaptation to local environmental conditions. (genestogenomes.org)

Valenzuela and her co-authors sampled softshell turtles at various stages of development, including embryos, young hatchlings and adults, and analyzed various tissues to determine which genes were activated. (newswise.com)
Using this approach, I show that more genes are called as sex differentially expressed in several human adult tissues compared to a default reference alignment. (asu.edu)

Through a combination of genetics, tissue-specific transcriptome analysis, and functional studies of candidate genes, we uncovered a possible explanation for this unexpected role of GLP-1/Notch. (scite.ai)

The study represents not only the first such study to analyze sex chromosome dosage compensation in turtles, but the findings also show that remarkably, temperature appears to affect the SCDC process in the turtles. (newswise.com)

Each pair is perfectly matched, so that the genes correspond. (drwile.com)

AceView: gene:him-8, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView. (nih.gov)
This recombinant DNA was introduced into the worm using a microinjection, and the gene was expressed, similarly to β-tubulin. (jove.com)

They hold a vast repository of genetic information that governs various aspects of human biology. (biologyonline.com)

The best known genes of microbes, mice and men are those that specify enzymes. (typeset.io)

We show that although the nascent Y chromosome encompasses nearly half of the linkage group, there has been no perceptible degradation of Y chromosome gene content or activity. (nature.com)

Single-cell RNA sequencing (scRNA-seq) has the potential to investigate both genetic and nongenetic sources of tumor heterogeneity in a single assay. (pklab.org)

The dominant theoretical model for the early stages of sex chromosome evolution 3 , 4 , 5 predicts that recombination will be selected against in the region between a sex determining gene and a nearby locus with alleles of sex-specific effect. (nature.com)

The authors engineered yeast genetic landscapes for cells to survive without EPL1 and in so doing, define Epl1 as a key co-factor for the essential catalytic enzyme of NuA4, Esa1. (genestogenomes.org)
Since the gene of interest and the reporter gene have the same cis -regulatory sequence, they are expressed in the same cells and at the same time. (jove.com)
The cells expressing the Luc gene produce luciferase enzymes that catalyze a reaction with luciferin to produce light. (jove.com)

Understanding the intricate functions and interactions of autosomes is crucial for unraveling the complexities of human genetics and advancing personalized medicine. (biologyonline.com)
Studying autosomal genetic disorders provides valuable insights into disease mechanisms and paves the way for targeted therapies and genetic counseling for the human creed. (biologyonline.com)
This is why autosomes form the backbone of human genetics as they hold the key to our intricate biological processes and susceptibility to genetic disorders. (biologyonline.com)

Aberrations in autosomal genes can give rise to a wide range of genetic disorders. (biologyonline.com)

In addition, NDK-1 shows a genetic interaction with DYN-1/dynamin, a downstream component of the CED-1 pathway. (scite.ai)

Scientists have assumed that dosage compensation is needed for any male cell to survive, said Meiklejohn. (sciencedaily.com)

This agrees with the fact that X dosage compensation is in respect to autosomes. (wikipedia.org)

We have also made a comprehensive table to contrast autosomes with allosomes for a special read. (biologyonline.com)

Autosomal genes play a vital role in metabolic processes, regulating energy production, nutrient metabolism, and the synthesis of essential molecules which is discussed in detail in the next section of the article. (biologyonline.com)

Anatomy10

Organisms14

Diseases6

Chemicals and Drugs29

Analytical, Diagnostic and Therapeutic Techniques and Equipment16

Psychiatry and Psychology1

Phenomena and Processes62

Anthropology, Education, Sociology and Social Phenomena1

Information Science3

Health Care3

Chromosomes27

Drosophila5

Genome6

Developmental3

Autosomal gene3

Evolutionary3

Meiotic1

Males9

Histone2

Occurs4

Protein8

Expression16

Organisms1

Humans3

Inactivation1

Species1

Cellular4

Phenotypic2

Caenorhabditis2

Lethal1

Females1

Differentiation2

Regulation1

Pairs2

Determination1

Variants2

Researchers2

Evidence1

Occur1

Differences1

Transcriptional1

Absence1

Quantify1

Tissues2

Functional1

Process1

Correspond1

Worm2

Biology1

Mice1

Show1

Single1

Locus1

Cells3

Human3

Disorders1

Interaction1

Survive1

Fact1

Comprehensive1

Processes1