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X chromosome

About: X chromosome is a research topic. Over the lifetime, 9862 publications have been published within this topic receiving 407354 citations. The topic is also known as: GO:0000805 & chrX.


Papers
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Journal ArticleDOI
TL;DR: How the sex chromosome complement may influence obesity, lipid levels, and inflammation is discussed and the presence of two X chromosomes has been associated with increased adiposity and dyslipidemia in mouse models and in XXY men.
Abstract: Background Sex differences in obesity and related diseases are well established. Gonadal hormones are a major determinant of these sex differences. However, sex differences in body size and composition are evident prior to exposure to gonadal hormones, providing evidence for gonadal-independent contributions attributable to the XX or XY sex chromosome complement. Large-scale genetic studies have revealed male/female differences in the genetic architecture of adipose tissue amount and anatomical distribution. However, these studies have typically neglected the X and Y chromosomes. Scope of the review Here we discuss how the sex chromosome complement may influence obesity, lipid levels, and inflammation. Human sex chromosome anomalies such as Klinefelter syndrome (XXY), as well as mouse models with engineered alterations in sex chromosome complement, support an important role for sex chromosomes in obesity and metabolism. In particular, the Four Core Genotypes mouse model—consisting of XX mice with either ovaries or testes, and XY mice with either ovaries or testes—has revealed an effect of X chromosome dosage on adiposity, hyperlipidemia, and inflammation irrespective of male or female gonads. Mechanisms may include enhanced expression of genes that escape X chromosome inactivation. Major conclusions Although less well studied than effects of gonadal hormones, sex chromosomes exert independent and interactive effects on adiposity, lipid metabolism, and inflammation. In particular, the presence of two X chromosomes has been associated with increased adiposity and dyslipidemia in mouse models and in XXY men. The enhanced expression of genes that escape X chromosome inactivation may contribute, but more work is required.

111 citations

Book ChapterDOI
TL;DR: This chapter reviews that the use of data from the X-A translocations in the mouse allowed hypothetical answers to be formulated regarding the selection of one active X chromosome, physical linkage of autosomal genes to the active or inactive X chromosomal material regarding inactivation or activation, and random versus nonrandom inactivation with respect to primary and secondary causes.
Abstract: Publisher Summary This chapter reviews that the use of data from the X-A translocations in the mouse allowed hypothetical answers to be formulated regarding the selection of one active X chromosome, physical linkage of autosomal genes to the active or inactive X chromosomal material regarding inactivation or activation, complete inactivation of an intact X chromosome versus incomplete inactivation of the X portion of an X-A segment, and random versus nonrandom inactivation with respect to primary and secondary causes. The chapter also discusses an interesting model for a gene regulation control system, which is proposed in higher organisms. The inactivation of the X chromosome would indicate that there are hierarchies of gene regulation. The X chromosome would be expected to have all the control systems. This latter system is hypothesized to be the determination mechanism for which X chromosome will be the inactive X chromosome.

111 citations

Journal ArticleDOI
01 Nov 1989-Neuron
TL;DR: The combined results locate the human alpha 3 gene within band Xq28, in a location that makes it a candidate gene for the X-linked form of manic depression.

111 citations

Journal ArticleDOI
TL;DR: Investigation of paired blood-tumour DNA samples for allele loss suggested that, in addition to the VHL gene in chromosome 3p25-p26, mutations in one or more tumour-suppressor genes in chromosome3p13-p24 may be involved in the pathogenesis of sporadic renal cell carcinoma (RCC).
Abstract: To investigate the role of tumour-suppressor genes on the short arm of chromosome 3 in the mechanism of tumorigenesis in non-familial renal cell carcinoma, we analysed 55 paired blood-tumour DNA samples for allele loss on chromosome 3p and in the region of known or putative tumour-suppressor genes on chromosomes 5, 11, 17 and 22. Sixty-four per cent (35/55) of informative tumours showed loss of heterozygosity (LOH) of at least one locus on the short arm of chromosome 3, compared with only 13% at the p53 tumour-suppressor gene and 6% at 17q21. LOH at chromosome 5q21 and 22q was uncommon (2-3%). Detailed analysis of the regions of LOH on chromosome 3p suggested that, in addition to the VHL gene in chromosome 3p25-p26, mutations in one or more tumour-suppressor genes in chromosome 3p13-p24 may be involved in the pathogenesis of sporadic renal cell carcinoma (RCC). We also confirmed previous suggestions that chromosome 3p allele loss is not a feature of papillary RCC (P < 0.05).

111 citations


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Performance
Metrics
No. of papers in the topic in previous years
YearPapers
202372
2022124
2021192
2020179
2019190
2018186