Trinucleotide genes androgen receptor x chromosome inactivation. Medical search. Frequent questions

As the number of X chromosomes increases, somatic and cognitive development are more likely to be affected. (medscape.com)
Interrogating 3,855 breast cancer lesions, spanning pre-invasive to metastatic disease, we demonstrate that germline variants in highly expressed and amplified genes influence somatic evolution by modulating immunoediting at early stages of tumor development. (stanford.edu)
Specifically, we show that the burden of germline-derived epitopes in recurrently amplified genes selects against somatic gene amplification in breast cancer. (stanford.edu)

This is of medical significance, due to the potential for the expression of disease genes present on the X chromosome that are normally not expressed due to random X-inactivation. (wikipedia.org)
It is also estimated that each human being is a carrier of around five recessive lethal genes and perhaps even more recessive disease genes, which may pose risk for the offspring of related individuals (such as cousin marriages). (dorak.info)

For example, a mouse with the genotype dd will have an inactivation ratio very close to 50:50. (wikipedia.org)
A mouse cell with the Xce genotype ad will have a greater number of the a-carrying than d-carrying X chromosomes inactivated, because the d-carrying X chromosome is less likely to be inactivated. (wikipedia.org)
In 1959, these men with Klinefelter syndrome were discovered to have an extra X chromosome (genotype XXY) instead of the usual male sex complement (genotype XY). (medscape.com)

The strength differences between the four alleles are likely due to variations in the number of binding sites for a crucial actor in inactivation. (wikipedia.org)
citation needed] Homozygotic mouse cells will have roughly even levels of inactivation due to both alleles having equal chance of being inactivated. (wikipedia.org)
Heterozygotes, will experience greater levels of skewing due to the differing inactivation likelihood of the two alleles. (wikipedia.org)
The first is that genomic differences in the Xce alleles alter the sequence of the long non-coding RNA that is an integral part of X chromosome inactivation. (wikipedia.org)
We used integrative three-dimensional (3D) spatial genomics to identify the chromatin interaction targets of 45 prostate cancer risk alleles, 31 of which were associated with the transcriptional regulation of target genes in 565 localized prostate tumors. (stanford.edu)

Men of European descent with higher genetic risk were diagnosed earlier, had less genomic instability, and fewer driver genes mutated. (stanford.edu)

Cells then undergo transcriptional and epigenetic changes to ensure this inactivation is permanent (such as methylation and being modified into Barr bodies). (wikipedia.org)

Skewing can also be influenced by the parent-of-origin effect, in which skewing becomes biased towards either the maternal or paternal X chromosome. (wikipedia.org)
A 2010 study found a small but significant under-expression of the paternal X chromosome in mice. (wikipedia.org)

If females kept both X chromosomes active, they would have twice the number of active X genes than males, who only have one copy of the X chromosome. (wikipedia.org)
Gonadal development is particularly susceptible to each additional X chromosome, resulting in seminiferous tubule dysgenesis and infertility, as well as hypoplastic and malformed genitalia in polysomy X males. (medscape.com)

The major consequences of the extra sex chromosome, usually acquired through an error of nondisjunction during parental gametogenesis, include hypogonadism, gynecomastia, and psychosocial problems. (medscape.com)

It is defined classically by a 47,XXY karyotype with variants that demonstrate additional X and Y chromosomes. (medscape.com)

For example, individuals with a high burden of germline-derived epitopes in ERBB2, encoding human epidermal growth factor receptor 2 (HER2), are significantly less likely to develop HER2-positive breast cancer compared to other subtypes. (stanford.edu)

It is unknown whether a similar gene plays a role in human X-inactivation, although a 2008 study found that skewing in humans is mostly caused by secondary events rather than a genetic tendency. (wikipedia.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)

Whether the morbidity associated with Klinefelter syndrome is a result of hypogonadism and hyperestrogenism or due to abnormal function of X chromosome linked genes is unclear. (medscape.com)
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)

Here we model occult preneoplasia by biallelic inactivation of TP53, a common early event in gastric cancer, in human gastric organoids. (stanford.edu)

It is difficult to identify primary nonrandom inactivation in humans, as early cell selection occurs in the embryo. (wikipedia.org)

The second is that Xce acts as a binding site for dosage factors that will affect XIST gene and Tsix expression (long non-coding RNAs involved in X chromosome inactivation). (wikipedia.org)
We showed previously that cytoplasmic release of mtDNA activates the cGAS STING TBK1 pathway resulting in interferon-stimulated gene (ISG) expression that promotes antiviral immunity4. (regenerativemedicine.net)
Here, we find that persistent mtDNA stress is not associated with basally activated NF-κB signalling or interferon gene expression typical of an acute antiviral response. (regenerativemedicine.net)

Studies have suggested an X-linked gene or genes that control this effect, but the exact gene has not yet been identified. (wikipedia.org)

At approximately the time of embryonic implantation, one of the two X chromosomes in each cell of the female embryo is randomly selected for inactivation. (wikipedia.org)
The intelligence quotient (IQ) score is reduced by approximately 15 points for each supernumerary X chromosome, but conclusions about reduced mental capacity must be drawn cautiously. (medscape.com)

It can be caused by primary nonrandom inactivation, either by chance due to a small cell pool or directed by genes, or by secondary nonrandom inactivation, which occurs by selection. (wikipedia.org)
If the initial pool of cells in which X-inactivation occurs is small, chance can cause skewing to occur in some individuals by causing a bigger proportion of the initial cell pool to inactivate one X chromosome. (wikipedia.org)

The X-chromosome controlling element (Xce) gene in mice has been found to influence genetically mediated skewing. (wikipedia.org)

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)
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)

Skewed X-chromosome inactivation (skewed X-inactivation) occurs when the X-inactivation of one X chromosome is favored over the other, leading to an uneven number of cells with each chromosome inactivated. (wikipedia.org)
Nonrandom X-inactivation leads to skewed X-inactivation. (wikipedia.org)
citation needed] Skewed X-inactivation in mice is controlled by the Xce gene on the X chromosome. (wikipedia.org)

The methylation status of a highly polymorphic cytosine-adenine-guanine repeat in the androgen-receptor (AR) gene was determined by use of methylation-sensitive restriction enzyme HpaII and polymerase chain reaction. (bilkent.edu.tr)
2. Androgen receptor cytosine-adenine-guanine repeat polymorphisms modulate EGFR signaling in epithelial ovarian carcinomas. (nih.gov)

It is usually defined as one allele being found on the active X chromosome in over 75% of cells, and extreme skewing is when over 90% of cells have inactivated the same X chromosome. (wikipedia.org)
Each allele has a different likelihood of inactivation, with a (wikipedia.org)
Kuhlenbäumer et al [2001] suggested that an allele of 37 CAG trinucleotide repeats can manifest reduced penetrance. (nih.gov)
7. Short androgen receptor allele length is a poor prognostic factor in epithelial ovarian carcinoma. (nih.gov)

1. Impact of androgen receptor cytosine-adenine-guanine polymorphisms on clinical outcome in BRCA mutation-associated epithelial ovarian cancers. (nih.gov)
5. Hyperandrogenism, mediated by obesity and receptor polymorphisms, promotes aggressive epithelial ovarian cancer biology. (nih.gov)
20. Androgen, progesterone, and FSH receptor polymorphisms in ovarian cancer risk and outcome. (nih.gov)
beta2 Adrenoceptor gene single nucleotide polymorphisms are associated with rheumatoid arthritis in northern Sweden. (cdc.gov)
Association of Vitamin D Metabolism Gene Polymorphisms with Autoimmunity: Evidence in Population Genetic Studies. (cdc.gov)

All individuals with SBMA have an expansion in the number of CAG trinucleotide repeats in exon 1 of AR . (nih.gov)
13. Androgen receptor gene cytosine, adenine, and guanine trinucleotide repeats in patients with endometriosis. (nih.gov)

11. CAG repeat length in exon 1 of the androgen receptor gene is related to age of diagnosis but not germ line BRCA1 mutation status in ovarian cancer. (nih.gov)

It is unknown whether a similar gene plays a role in human X-inactivation, although a 2008 study found that skewing in humans is mostly caused by secondary events rather than a genetic tendency. (wikipedia.org)
6. The androgen receptor and genetic susceptibility to ovarian cancer: results from a case series. (nih.gov)
Evaluation of X Chromosome Inactivation with Respect to HLA Genetic Susceptibility in Rheumatoid Arthritis and Systemic Sclerosis. (cdc.gov)
A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. (nih.gov)
The genetic defect responsible for the disease is expansion of a CAG repeat in the gene coding for the HD protein, huntingtin (htt). (biomedcentral.com)

Cells then undergo transcriptional and epigenetic changes to ensure this inactivation is permanent (such as methylation and being modified into Barr bodies). (wikipedia.org)

In PCOSd and Cd, methylation-weighted biallelic means CAGn (mwCAGn) was not associated with androgen levels. (nih.gov)

Gonadal development is particularly susceptible to each additional X chromosome, resulting in seminiferous tubule dysgenesis and infertility, as well as hypoplastic and malformed genitalia, as seen in polysomy X males. (medscape.com)
A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. (nih.gov)

9] Consequences of an extra X chromosome, usually acquired through a nondisjunctional error during parental gametogenesis, include hypogonadism, gynecomastia, and psychosocial behavioral concerns. (medscape.com)
Affected individuals often show gynecomastia, testicular atrophy, and reduced fertility as a result of mild androgen insensitivity. (nih.gov)

Clinical trials of anti-androgen drugs (e.g., leuprorelin) did not consistently reveal significant efficacy, but leuprorelin was efficacious as a treatment for dysphagia in a follow-up clinical trial in Japan, leading to its approval in Japan but not elsewhere. (nih.gov)

Congenital conditions in which there is variation in the number and/or structure of the sex chromosomes, and/or in which the development of gonadal, reproductive, and/or genital structures is atypical. (nih.gov)

To assess the role of the androgen receptor (AR) CAG repeat polymorphism in the metabolic and reproductive features in daughters of women with PCOS (PCOSd). (nih.gov)
The AR CAG repeat sizes and X-chromosome inactivation (XCI) were analyzed. (nih.gov)
AR CAG repeat polymorphism appears to be unrelated with serum androgen levels. (nih.gov)
4. Androgen receptor CAG repeat length in Jewish Israeli women who are BRCA1/2 mutation carriers: association with breast/ovarian cancer phenotype. (nih.gov)
8. Polymorphic CAG repeat length within the androgen receptor gene: identification of a subgroup of patients with increased risk of ovarian cancer. (nih.gov)
16. Shorter CAG repeat length in the AR gene is associated with poor outcome in head and neck cancer. (nih.gov)
Association of tri-nucleotide (CAG and GGC) repeat polymorphism of androgen receptor gene in Taiwanese women with refractory or remission rheumatoid arthritis. (cdc.gov)
CAG repeat polymorphism in the androgen receptor gene in women with rheumatoid arthritis. (cdc.gov)
Lack of association between CAG repeat polymorphism in the androgen receptor gene and the outcome of rheumatoid arthritis treatment with leflunomide. (cdc.gov)
It is now clear that expansion of this repeat in various genes can cause distinct neurodegenerative pathology in different disorders. (biomedcentral.com)
Consistently, deletion of the CAG repeat in the HD gene only results in subtle behavioral and motor phenotypes in mice [ 15 ]. (biomedcentral.com)

citation needed] X-chromosome inactivation occurs in females to provide dosage compensation between the sexes. (wikipedia.org)
All progeny from these initial cells will maintain the inactivation of the same chromosome, resulting in a phenotypic mosaic pattern of cells in females although not a genotypic mosaic. (wikipedia.org)

The X chromosome carries genes that have a role in many organ systems, playing a part, for example, in testes function, brain development, and growth. (medscape.com)
Background: The role of extremely skewed X-chromosome inactivation (XCI) has been questioned in the pathogenesis of recurrent spontaneous abortion (RSA) but the results obtained were conflicting. (bilkent.edu.tr)

Mutation and imprinting of the XIST gene, a part of the X-inactivation centre, can result in skewing. (wikipedia.org)
In a large cohort of breast cancers, localized hyper-mutation signatures have been detected that are attributed to the potential dysfunction of repair genes including polymerases and also enzymes in the APOBEC family (Nik-Zainal, 2012). (stratech.co.uk)

A prospective study of androgen levels, hormone-related genes and risk of rheumatoid arthritis. (cdc.gov)

The addition of more than one extra X or Y chromosome to a normal male karyotype results in variable cognitive and physical abnormalities. (medscape.com)
These results suggest that MC delivery via microvesicles can mediate gene transfer to an extent that enables effective prodrug conversion and tumor cell death such that it comprises a promising approach to cancer therapy. (regenerativemedicine.net)

Polymorphism of the beta3-adrenergic receptor and lipid profile in patients with rheumatoid arthritis and systemic lupus erythematosus treated with chloroquine. (cdc.gov)
A subset of patients with breast cancers that are considered to be sporadic have tumors with dysfunctional or absent BRCA1 or BRCA2 but lack inherited mutations in these genes. (stratech.co.uk)

The hunt for the HD gene involved an intense molecular genetics research effort by investigators cooperating around the globe. (biomedcentral.com)

9. Skewed X chromosome inactivation and breast and ovarian cancer status: evidence for X-linked modifiers of BRCA1. (nih.gov)

Probe Set ID Ref Seq Protein ID Signal Strength Name Gene Symbol Species Function Swiss-Prot ID Amino Acid Sequence 1367452_at NP_598278 16.52 small ubiquitin-related modifier 2 precursor Sumo2 Rattus norvegicus " Ubiquitin-like protein that can be covalently attached to proteins as a monomer or as a lysine-linked polymer. (nih.gov)

This is of medical significance, due to the potential for the expression of disease genes present on the X chromosome that are normally not expressed due to random X-inactivation. (wikipedia.org)

Androgen (testosterone) replacement therapy is an important aspect of treatment. (medscape.com)

Nonrandom X-inactivation leads to skewed X-inactivation. (wikipedia.org)

All major areas of development, including expressive and receptive language and coordination, are affected by extra X chromosome material. (medscape.com)

Balmaña, 2009), all highly penetrant genes. (stratech.co.uk)

It can be caused by primary nonrandom inactivation, either by chance due to a small cell pool or directed by genes, or by secondary nonrandom inactivation, which occurs by selection. (wikipedia.org)
Nonrandom X-inactivation can be caused by chance or directed by genes. (wikipedia.org)

A 2010 study found a small but significant under-expression of the paternal X chromosome in mice. (wikipedia.org)

Moreover, mental capacity diminishes with additional X chromosomes. (medscape.com)

Skewed X-chromosome inactivation (skewed X-inactivation) occurs when the X-inactivation of one X chromosome is favored over the other, leading to an uneven number of cells with each chromosome inactivated. (wikipedia.org)

Xce acts in cis, which means that it acts upon the chromosome from which it was transcribed. (wikipedia.org)

The X-chromosome controlling element (Xce) gene in mice has been found to influence genetically mediated skewing. (wikipedia.org)

Anatomy60

Organisms2

Diseases22

Chemicals and Drugs32

Analytical, Diagnostic and Therapeutic Techniques and Equipment15

Psychiatry and Psychology2

Phenomena and Processes96

Information Science3

Named Groups1

Somatic3

Disease genes2

Genotype3

Alleles5

Genomic1

Transcriptional1

Paternal2

Males2

Parental1

Variants1

Significantly1

Genetic2

Syndrome2

Human1

Early1

Expression3

Studies1

Approximately2

Cell2

Influence1

Single2

Skewed X-inactivation3

Cytosine-adenine-guanine repeat2

Allele4

Polymorphisms5

Repeats2

Exon1

Genetic5

Epigenetic1

Methylation1

Dysgenesis2

Gynecomastia2

Clinical1

Gonadal1

Repeat11

Females2

Role2

Mutation2

Levels1

Results2

Patients2

Molecular1

Evidence1

Protein1

Disease1

Therapy1

Leads1

Extra1

Highly1

Chance2

Study1

Mental1

Cells1

Means1

Found1