Topic
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.
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TL;DR: A model for how the dosage compensation complex recognizes X chromatin is presented and it is shown that the roX1 gene provides a nucleation site for extensive spreading of the MSL complex into flanking chromatin even when moved to an autosome.
301 citations
TL;DR: In man, the specific chromosome that carries each of about 210 gene loci is known as mentioned in this paper, including at least one assigned to each chromosome (including the Y), about 110 assigned to specific autosomes, and about 100 to the X chromosome.
Abstract: In man, the specific chromosome that carries each of about 210 gene loci is known. These loci include at least one assigned to each chromosome (including the Y), about 110 assigned to specific autosomes, and about 100 to the X chromosome. For many loci, information on regional chromosomal localization is also available. The information comes mainly from studies in families and somatic cell hybrids, as well as an intgratsight of results from the two methods. Knowledge of the chromosome map gives insight into evolution, chromosomal organization in relation to genetic control mechanisms, and the pathogenesis of neoplasms and malformations. Furthermore, it is useful in prenatal or premorbid diagnosis of hereditary diseases.
301 citations
TL;DR: The study of dosage compensation in model organisms belonging to three distantly related taxa has revealed the existence of an amazing number of interacting chromatin remodeling mechanisms that affect the function of entire chromosomes.
Abstract: In many multicellular organisms, males have one X chromosome and females have two. Dosage compensation refers to a regulatory mechanism that insures the equalization of X-linked gene products in males and females. The mechanism has been studied at the molecular level in model organisms belonging to three distantly related taxa; in these organisms, equalization is achieved by shutting down one of the two X chromosomes in the somatic cells of females, by decreasing the level of transcription of the two doses of X-linked genes in females relative to males, or by increasing the level of transcription of the single dose of X-linked genes in males. The study of dosage compensation in these different forms has revealed the existence of an amazing number of interacting chromatin remodeling mechanisms that affect the function of entire chromosomes.
301 citations
TL;DR: It is suggested that AR function is required for normal female reproduction, particularly folliculogenesis, and that AR is a potential therapeutic target in POF syndrome.
Abstract: Premature ovarian failure (POF) syndrome, an early decline of ovarian function in women, is frequently associated with X chromosome abnormalities ranging from various Xq deletions to complete loss of one of the X chromosomes. However, the genetic locus responsible for the POF remains unknown, and no candidate gene has been identified. Using the Cre/LoxP system, we have disrupted the mouse X chromosome androgen receptor (Ar) gene. Female AR–/– mice appeared normal but developed the POF phenotype with aberrant ovarian gene expression. Eight-week-old female AR–/– mice are fertile, but they have lower follicle numbers and impaired mammary development, and they produce only half of the normal number of pups per litter. Forty-week-old AR–/– mice are infertile because of complete loss of follicles. Genome-wide microarray analysis of mRNA from AR–/– ovaries revealed that a number of major regulators of folliculogenesis were under transcriptional control by AR. Our findings suggest that AR function is required for normal female reproduction, particularly folliculogenesis, and that AR is a potential therapeutic target in POF syndrome.
300 citations
Journal Article•
TL;DR: Fifteen human X-chromosome-specific DNA fragments, localized to particular regions of that chromosome, were used to search for restriction fragment length polymorphisms, which allowed identifying females, from pedigrees segregating three X-linked diseases, who were multiply heterozygous for polymorphic loci spread throughout the X chromosome.
Abstract: Fifteen human X-chromosome-specific DNA fragments, localized to particular regions of that chromosome, were used to search for restriction fragment length polymorphisms. A screening panel prepared by digesting DNA from only two females and one male with 24 restriction enzymes was sufficient to reveal two-allele polymorphisms among one-third of the probes tested. These polymorphisms, as theoretically anticipated, showed minor allele frequencies above 20%, as a rule. Such high-frequency polymorphism allowed identifying females, from pedigrees segregating three X-linked diseases, who were multiply heterozygous for polymorphic loci spread throughout the X chromosome. In addition, two of the 24 enzymes tested with these X-specific probes, Msp I and Taq I, generate fragment sizes in DNA-blotting experiments that, on average, are significantly larger than expected from nearest neighbor predicted recognition site frequencies.
300 citations