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.

The human Y chromosome derives largely from a single autosomal region added to the sex chromosomes 80-130 million years ago.

Abstract: Mapping of human X-borne genes in distantly related mammals has defined a conserved region shared by the X chromosome in all three extant mammalian groups, plus a region that was recently added to the eutherian X but is still autosomal in marsupials and monotremes Using comparative mapping of human Y-borne genes, we now directly show that the eutherian Y is also composed of a conserved and an added region which contains most of the ubiquitously expressed Y-borne genes Little of the ancient conserved region remains, and the human Y chromosome is largely derived from the added region

A New Rett Syndrome Family Consistent with X-Linked Inheritance Expands the X Chromosome Exclusion Map

Abstract: Although familial recurrences of Rett syndrome (RTT) comprise only approximately 1% of the reported cases, it is these cases that hold the key for the understanding of the genetic basis of the disorder. Families in which RTT occurs in mother and daughter, aunt and niece, and half sisters are consistent with dominant inheritance and variable expressivity of the phenotype. Recurrence of RTT in sisters is likely due to germ-line mosaicism in one of the parents, rather than to recessive inheritance. The exclusive occurrence of classic RTT in females led to the hypothesis that it is X-linked and may be lethal in males. In an X-linked dominant disorder, unaffected obligate-carrier females would be expected to show nonrandom or skewed inactivation of the X chromosome bearing the mutant allele. We investigated the X chromosome inactivation (XCI) patterns in the female members of a newly identified family with recurrence of RTT in a maternal aunt and a niece. Skewing of XCI is present in the obligate carrier in this family, supporting the hypothesis that RTT is an X-linked disorder. However, evaluation of the XCI pattern in the mother of affected half sisters shows random XCI, suggesting germ-line mosaicism as the cause of repeated transmission in this family. To determine which regions of the X chromosome were inherited concordantly/discordantly by the probands, we genotyped the individuals in the aunt-niece family and two previously reported pairs of half sisters. These combined exclusion-mapping data allow us to exclude the RTT locus from the interval between DXS1053 in Xp22.2 and DXS1222 in Xq22.3. This represents an extension of the previous exclusion map.

Escape from X inactivation.

Abstract: Although the process of X inactivation in mammalian cells silences the majority of genes on the inactivated X chromosome, some genes escape this chromosome-wide silencing. Genes that escape X inactivation present a unique opportunity to study the process of silencing and the mechanisms that protect some genes from being turned off. In this review, we will discuss evolutionary aspects of escape from X inactivation, in relation to the divergence of the sex chromosomes. Molecular characteristics, expression, and epigenetic modifications of genes that escape will be presented, including their developmental regulation and the implications of chromatin domains along the X chromosome in modeling the escape process.

Sex Chromosome Effects Unmasked in Angiotensin II–Induced Hypertension

Abstract: Sex differences in mean arterial pressure (MAP) are reported in many experimental models of hypertension and are ascribed to gonadal sex based on studies showing that gonadectomy and gonadal hormone replacement affect MAP. The interpretation of these studies, however, has been confounded by differences in the sex chromosome complement (XX versus XY). To investigate the sex chromosome complement independent of gonadal sex, we used the 4 core genotype mouse model in which gonadal sex is separated from the sex chromosome complement enabling comparisons among XX and XY females and XX and XY males. We found that, in the gonadectomized (GDX) 4 core genotype, MAP after 2 weeks of angiotensin II infusion (200 ng/kg per minute) was greater in XX than XY (MAP [in millimeters of mercury]: GDX-XX-female, 148+/-4.5; GDX-XY-female, 133+/-4.4; GDX-XX-male, 149+/-9.4; GDX-XY-male, 138+/-5.5; P<0.03, XX versus XY; n=8 to 9 per group). In contrast, no sex chromosome effects were found on heart rate, body weight, or plasma angiotensin II 2 weeks after angiotensin II infusion. This study suggests that, in addition to effects of gonadal hormones on blood pressure, X- or Y-linked genes, parental imprinting, or X mosaicism contributes to sex differences in hypertension. Furthermore, the finding that MAP was greater in XX mice compared with XY mice in the GDX state suggests that adverse sex chromosome effects encoded within the XX sex chromosome complement could contribute to hypertension in women with ovarian hormone deficiency, such as postmenopausal women and women with premature ovarian failure.