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Dosage compensation

About: Dosage compensation is a research topic. Over the lifetime, 1920 publications have been published within this topic receiving 124589 citations.


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TL;DR: The prevalence of sex chromatin was significantly lowest among the pre-menarcheal females, while significantly highest among the lactating mothers, and the menopausal women revealed significantly lower prevalence compared to all status of females.
Abstract: The development of genetic sex determination and cytologically distinct sex chromosomes leads to the potential problem of gene dosage imbalances between autosomes and sex chromosomes and also between males and females. To circumvent these imbalances, mammals have developed an elaborate system of dosage compensation that includes both up regulation and repression of the X chromosome. Random X-chromosome inactivation is the transcriptional silencing of one X chromosome in female mammalian cells that equalizes dosage of gene products from the X chromosome between XX females and XY males. The process of inactivation is controlled by the X-inactivation center (Xic) which includes Xist and its antisense transcription unit Tsix/Xite, somehow senses the number of X chromosomes and triggers Xist up-regulation from one of the two X chromosomes in females. The differential behaviour of the two X chromosome of female cells undoubtedly has biological implications. An effect of hormonal factors on the frequency of sex chromatin has been subject matter of importance. The present study was conducted to evaluate the prevalence of sex chromatin among Bengalee Caste Hindu females of different age groups. Material for the present study consisted of the samples of buccal smear of 150 females categorized into five different physiological phases each of 30 samples in accordance with their hormonal effect. These physiological phases were pre-menarche, menarche, pregnant, lactating and menopause. Altogether 15000 (fifteen thousand) buccal epithelial cells has been studied. Results indicated differential prevalence of sex chromatin among the different maturity and developmental status of Bengalee caste Hindu females. Present study demonstrated that the prevalence of sex chromatin was significantly lowest (P <0.001) among the pre-menarcheal females, while significantly highest (P <0.001) among the lactating mothers. On the other hand, the menopausal women revealed significantly lower prevalence (P <0.001) of sex chromatin compared to all status of females. These results suggested possible association between the presence of steroid hormone receptors and the prevalence of sex chromatin.

1 citations

01 Jan 1999
TL;DR: Early in development, compensatory mechanisms are employed to make X-chromosome expression similar in the two sexes, despite the difference in X -chromosomenumber.
Abstract: , embryos with two X chromosomes undergofemale somatic development, whereas embryos with onlyone X and a Y (or XO in nematodes) differentiate asmales. Early in development, compensatory mechanismsare employed to make X-chromosome expression similarin the two sexes, despite the difference in X-chromosomenumber. Dosage compensation is an essential process inone sex of each of these organisms, and it appears that themajority of X-chromosomal genes have acquired thisadditional level of regulation during the evolution of sexchromosomes

1 citations

Journal ArticleDOI
TL;DR: Zhang et al. as discussed by the authors employed nanopore sequencing to investigate the genetic basis of gene expression and gene dosage effects in avian Z chromosomes at the posttranscriptional level.
Abstract: Mammalian sex chromosomes provide dosage compensation, but avian lack a global mechanism of dose compensation. Herein, we employed nanopore sequencing to investigate the genetic basis of gene expression and gene dosage effects in avian Z chromosomes at the posttranscriptional level.In this study, the gonad and head skin of female and male duck samples (n = 4) were collected at 16 weeks of age for Oxford nanopore sequencing. Our results revealed a dosage effect and local regulation of duck Z chromosome gene expression. Additionally, AS and APA achieve tissue-specific gene expression, and male-biased lncRNA regulates its Z-linked target genes, with a positive regulatory role for gene dosage effects on the duck Z chromosome. In addition, GO enrichment and KEGG pathway analysis showed that the dosage effects of Z-linked genes were mainly associated with the cellular response to hormone stimulus, melanin biosynthetic, metabolic pathways, and melanogenesis, resulting in sex differences.Our data suggested that post transcriptional regulation (AS, APA and lncRNA) has a potential impact on the gene expression effects of avian Z chromosomes. Our study provides a new view of gene regulation underlying the dose effects in avian Z chromosomes at the RNA post transcriptional level.

1 citations

Posted ContentDOI
21 Mar 2016-bioRxiv
TL;DR: This study identified transcription start sites of escapees (escTSSs) based on higher transcription levels in female cells using FANTOM5 CAGE data and elucidated the importance of YY1 on transcriptional activity on Xi in general through sequence-specific binding, and its involvement at superloop anchors.
Abstract: Sex differences in susceptibility and progression have been reported in numerous diseases. Female cells have two copies of the X chromosome with X-chromosome inactivation imparting mono-allelic gene silencing for dosage compensation. Such differences in transcriptional status between the copies in female and copy numbers between sexes pose a challenge to genomic data analyses of the X. A subset of genes, named escapees, escape silencing and are transcribed bi-allelically resulting in sexual dimorphism. Here we conducted analyses of the sexes using human datasets to gain perspectives in such regulation. We first identified transcription start sites of escapees (escTSSs) based on higher transcription levels in female cells using FANTOM5 Cap Analysis of Gene Expression data. Greater similarity of DNA methylation levels between the sexes was found to be consistent with bi-allelic activity at these escTSSs. The significant over-representations of YY1 transcription factor binding motif and ChIP-seq peaks around escTSSs highlighted its positive association with escapees. Furthermore, YY1 occupancy is significantly biased towards the inactive X (Xi) at long non-coding RNA loci that are frequent contacts of previously reported Xi-specific superloops in female GM12878 cells. Aside from revealing the unique properties of the X as reflected by genomic datasets, our study elucidated the importance of YY1 on transcriptional activity on Xi in general through sequence-specific binding, and its involvement at anchor regions of Xi-specific chromatin superloops.

1 citations


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Performance
Metrics
No. of papers in the topic in previous years
YearPapers
202330
202272
202183
202051
201980
201870