citation needed] The SRY gene, normally found on the Y chromosome, plays an important role in sex determination by initiating testicular development. (wikipedia.org)
Genetic7
In 90 percent of these individuals, the syndrome is caused by the Y chromosome's SRY gene, which triggers male reproductive development, being atypically included in the crossing over of genetic information that takes place between the pseudoautosomal regions of the X and Y chromosomes during meiosis in the father. (wikipedia.org)
citation needed] The condition results from an abnormal exchange of genetic material between chromosomes (translocation). (wikipedia.org)
Genetic analysis included karyotyping, X inactivation studies, fluorescent in situ hybridization, microsatellite marker genotyping, and array comparative genomic hybridization. (biomedcentral.com)
Turner syndrome (45, X, TS, monosomy X) is the genetic disorder resulting from the absence of all or part of one X chromosome in females. (biomedcentral.com)
The genetic abnormality in TS is determined by the absence of one copy of genes on the X chromosome. (biomedcentral.com)
A total of 7 possible genetic alterations and epigenetic changes in CAFs are discussed, including gene differential expression, karyotype analysis, gene copy number variation, loss of heterozygosis, allelic imbalance, microsatellite instability, post‑transcriptional control and DNA methylation. (spandidos-publications.com)
Genetic alterations include genetic mutation, gene copy number variation (CNV), loss of heterozygosity (LOH), allelic imbalance (AI) and microsatellite instability (MSI). (spandidos-publications.com)
Mammalian2
The multi-subunit shelterin complexes bind along mammalian telomeres, shielding the natural chromosome ends from engaging the DNA damage signaling and repair machinery [ 1 ]. (prolekarniky.cz)
Several mutations in LHR have been identified in many mammalian species, leading to either constitutive activation or inactivation of the receptor. (preprints.org)
Mutations4
Masculinization of SRY-negative XX males is dependent upon which genes have mutations and at what point in development these mutations occur. (wikipedia.org)
X linked Alport syndrome (ATS, OMIM 301050) is a hereditary glomerulonephritis resulting from either point mutations or intragenic deletions of the COL4A5 gene encoding the α5 chain of type IV collagen. (bmj.com)
Notably, mutations in the TPP1 OB-fold domain compromise telomerase-dependent telomere extension but not telomere end protection [ 18 , 21 ], indicating that TPP1 performs a role in telomerase regulation which is distinct from its contribution to chromosome end protection. (prolekarniky.cz)
To directly assess the functional effects of these mutations, site-directed mutant receptors were transiently expressed in CHO-K1 cells and cAMP accumulation stimulated by recombinant eelLH (rec-eelLH) was measured by homogeneous time-resolved fluorescence (HTRF) assays. (preprints.org)
Chromosomal1
Less common are SRY-negative XX males, which can be caused by a mutation in an autosomal or X chromosomal gene. (wikipedia.org)
Males9
It is thought that X inactivation in XX males may account for the genital ambiguities and incomplete masculinization seen in SRY-positive XX males. (wikipedia.org)
The X chromosome with the SRY gene is preferentially chosen to be the active X chromosome 90% of the time, which explains complete male phenotype being observed often in SRY-positive XX males. (wikipedia.org)
Some XX males, however, do not have the SRY gene (SRY-negative) and the male phenotype may be caused by another gene on one of the autosomes. (wikipedia.org)
In about 80 percent of XX males, the SRY gene is present on one of the X chromosomes. (wikipedia.org)
Some of these genes have functional Y-linked homologs that are thought to balance their dosage between males and females. (biomedcentral.com)
In 1998, we described a new Xq22.3 contiguous gene syndrome which we named AMME (OMIM 300194) because of the distinctive features observed in affected males: Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E). 10 After the original publication, clinical re-evaluation of the family showed alterations of cardiac rhythm and morphology on echocardiography. (bmj.com)
Investigation of other cases of human sex reversal ( XX males , XY females ) has led to discovery of other genes crucial to testicular differentiation on autosomes (e.g. (en-academic.com)
Deletion4
We report statistical evidence that deletion of Xp22.3, an interval containing 31 annotated genes, is sufficient to cause the neurocognitive phenotype described by the TSCS score. (biomedcentral.com)
1- 3 Contiguous gene syndromes are phenotypically complex disorders associated with the deletion of multiple adjacent genes. (bmj.com)
4, 5 Until recently, the only known contiguous gene syndrome involving the COL4A5 gene was Alport syndrome and diffuse leiomyomatosis (ATS-DL, OMIM 308940), 6- 9 in which the deletion extends towards the centromere to include the first two exons of the adjacent COL4A6 gene. (bmj.com)
A long range deletion map was constructed using available X chromosome YAC contigs and the DNA of the proband of family 1, hybrid 1C3 derived from the mother of family 2, and patients 3 and 4. (bmj.com)
Mutant1
In this study, we have identified TIN2-R282H, the most common DC-causing mutation in shelterin subunit TIN2, as a separation-of-function mutant which impairs telomerase recruitment to telomeres, but not chromosome end protection. (prolekarniky.cz)
Transcription3
We demonstrate that the NanoFIRE system is adaptable via substitution of the response element controlling NanoLuciferase and show that it can report on the activity of the transcriptional regulator Factor Inhibiting HIF, and an unrelated transcription factor, the Progesterone Receptor. (bvsalud.org)
Of the 31 genes, the 21 upregulated genes were primarily associated with cell paracrine and intracellular signaling, transcription regulation and cell adhesion and migration, and their transcriptional products included transforming growth factor-β2 (TGF-β2), insulin-like growth factor-binding protein 2 and transcriptional factor AP-2α/γ ( 11 ). (spandidos-publications.com)
The citric type, pin-pointed a available interface( complex), describes an Second subcellular transcription within a receptor path-finding. (evakoch.com)
Differences3
Sex differences may be induced by specific genes , by hormones, by anatomy , or by social learning . (en-academic.com)
Specific genes induce gonadal differences, which produce hormonal differences, which cause anatomic differences, leading to psychological and behavioral differences, some of which are innate and some induced by the social environment . (en-academic.com)
A completely male phenotype usually develops in the presence of the SRY gene but, in some cases, the presence of the SRY gene can result in internal and/or external genitalia ambiguities. (wikipedia.org)
We previously reported evidence that this phenotype results from haploinsufficiency of one or more genes on distal Xp. (biomedcentral.com)
Detailed mapping suggests that haploinsufficiency of one or more genes in Xp22.3, the distal 8.3 megabases (Mb) of the X chromosome, is responsible for a TS neurocognitive phenotype. (biomedcentral.com)
Haploinsufficiency of the short stature gene SHOX in PAR1 probably does not cause this TS neurocognitive phenotype. (biomedcentral.com)
Two genes proximal to PAR1 within the 8.3 Mb critical region, STS and NLGN4X , are attractive candidates for this neurocognitive phenotype. (biomedcentral.com)
Normal XX females undergo X inactivation during which one copy of the X chromosome is silenced. (wikipedia.org)
Normal3
When the X with the SRY gene combines with a normal X from the mother during fertilization, the result is an XX male. (wikipedia.org)
Although one X chromosome undergoes inactivation in normal females during early embryogenesis, about 15% of all X chromosome genes, mostly situated on the short arm (Xp), remain active to some degree on both X chromosomes [ 17 ]. (biomedcentral.com)
16 Selection for the active X chromosome yielded 12 clones bearing only the normal X and five clones retaining both X chromosomes. (bmj.com)
Cell2
14) strand proteins in gene-internal of FGFR3 and capable sunshine amyloid or proteotoxic cell increasing( Otsuki, 1999). (evakoch.com)
Given the extreme toxicity of some of the toxins of these TA systems, we were curious how the cell silences toxins, if the antitoxin is inactivated or when toxins are obtained without antitoxins via horizontal gene transfer. (preprints.org)
Specific1
Chromosome painting, performed on metaphase chromosomes preparations with an X chromosome specific probe (P5222-DG.5, Oncor), 17 confirmed that these hybrids contained only one X chromosome. (bmj.com)
Include1
In the remaining 10%, X inactivation spreads to include a portion of the SRY gene, resulting in incomplete masculinization. (wikipedia.org)
Analysis1
Back selection for the inactive X on one diploid clone yielded 12 hybrids containing the deleted inactive X chromosome, three of which were selected for analysis. (bmj.com)
Short arm1
A gene in the sex-determining region of the short arm of the Y, now referred to as SRY , has been found to direct production of a protein which binds to DNA, inducing differentiation of cells derived from the genital ridges into testes. (en-academic.com)
Results1
These results are consistent with another study concerning the gene expression profiling of breast CAFs, which were detected using a complementary DNA microarray ( 15 ). (spandidos-publications.com)
Condition1
We now propose renaming this condition ATS-MR, so that consistent terminology is used to describe the known ATS contiguous gene syndromes. (bmj.com)
Found2
Genes mainly involved in coding adhesion molecules and growth factors have also been found to be upregulated in other types of CAFs, including colon ( 12 ) and pancreatic ( 13 ). (spandidos-publications.com)
The prostaglandin-endoperoxide synthase 2 gene (PTGS2), which encodes cyclooxygenase-2, was found to upregulate the expression of TGF-β2 ( 14 ). (spandidos-publications.com)
Present1
The present review summarizes the recent achievements in understanding the gene profiles of CAFs and pays special attention to their possible epigenetic alterations. (spandidos-publications.com)
Human1
The early stages of human differentiation appear to be quite similar to the same biological processes in other mammals and the interaction of genes, hormones and body structures is fairly well understood. (en-academic.com)
Autosomes3
Some XX males, however, do not have the SRY gene (SRY-negative) and the male phenotype may be caused by another gene on one of the autosomes. (wikipedia.org)
4 Searches for linkage on the X chromosome have yielded weak evidence for linkage in Xp11 5 and on the proximal long arm, 6-8 but, arguably, these findings have been no more consistent than those on the autosomes. (bmj.com)
Provisional maps of the two smallest autosomes (chromosomes 21 and 22) at pachytene in the male. (nih.gov)
Induces1
A common feature of the cell lines in which arsenite induces apoptosis is a p53-deficient phenotype, either by mutation or viral oncogene inactivation of p53. (nih.gov)
Mutation2
We characterized the X-chromosomal abnormality encompassing HCCS or an intragenic mutation in this gene in six new female patients with an MLS phenotype by cytogenetic analysis, fluorescence in situ hybridization, sequencing, and quantitative real-time PCR. (nih.gov)
Less common are SRY-negative XX males, which can be caused by a mutation in an autosomal or X chromosomal gene. (wikipedia.org)
Meiosis2
In 90 percent of these individuals, the syndrome is caused by the Y chromosome's SRY gene, which triggers male reproductive development, being atypically included in the crossing over of genetic information that takes place between the pseudoautosomal regions of the X and Y chromosomes during meiosis in the father. (wikipedia.org)
Therefore, MTOR-dependent pathways in primordial or growing oocytes differentially affected downstream processes including follicular development, sex-specific identity of early granulosa cells, maintenance of oocyte genome integrity, oocyte gene expression, meiosis, and preimplantation developmental competence. (edu.au)
Citation2
citation needed] The SRY gene, normally found on the Y chromosome, plays an important role in sex determination by initiating testicular development. (wikipedia.org)
citation needed] The condition results from an abnormal exchange of genetic material between chromosomes (translocation). (wikipedia.org)
Progression1
In prostate cancer, loss of the tumour suppressor gene, Retinoblastoma (Rb), and consequent activation of transcription factor E2F1 typically occurs at a late-stage of tumour progression. (bvsalud.org)
Abnormal1
10 11 In general, XX maleness is the result of the transfer of the testis determining factor ( SRY ) to the X chromosome 12 as a result of an abnormal X-Y interchange involving the non-recombining region of Yp and homologous sequences in Xp. (bmj.com)
Dosage2
The finding of equal allele dosage for tetrasomy 21 suggests that hyperdiploidy originates in a single aberrant mitosis, though a sequential gain of chromosomes other than 21 in consecutive cell divisions remains a possibility. (ashpublications.org)
PMID- 5097516 TI - Polyploidy and gene dosage effects on chloroplasts of fern gametophytes. (nih.gov)
Frequently2
This is distinct from previously described translocations, which frequently involve hot spots such as the protein kinase gene PRK that has homologues on both Yp and Xp. (bmj.com)
It appears to regulate a switch to an androgen-independent form of cancer, castration-resistant prostate cancer (CRPC), which frequently still requires androgen receptor (AR) signalling. (bvsalud.org)
Cells1
We have previously shown that upon mating, binucleate secondary cells (SCs) of the Drosophila melanogaster male accessory gland (AG), which share some similarities with prostate epithelial cells, switch their growth regulation from a steroid-dependent to a steroid-independent form of Ecdysone Receptor (EcR) control. (bvsalud.org)
Male2
When the X with the SRY gene combines with a normal X from the mother during fertilization, the result is an XX male. (wikipedia.org)
The breakpoint on the X chromosome is unusual in this category of XX male patients, as most occur proximal to the pseudoautosomal boundary (PABX). (bmj.com)
Approach1
In the absence of consistent linkage, one approach to finding genes associated with psychosis is through analysis of cytogenetic anomalies. (bmj.com)
Expression2
In this context, the sirtuins have been reported to play a key role, which is mostly based on their requirement of NAD + as a co-factor for enzymatic activity, which in turn demonstrates the crucial link between sirtuins and the energy-dependent regulation of gene expression. (biomedcentral.com)