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.

MES-4: an autosome-associated histone methyltransferase that participates in silencing the X chromosomes in the C. elegans germ line

Abstract: Germ cell development in C. elegans requires that the X chromosomes be globally silenced during mitosis and early meiosis. We previously found that the nuclear proteins MES-2, MES-3, MES-4 and MES-6 regulate the different chromatin states of autosomes versus X chromosomes and are required for germline viability. Strikingly, the SET-domain protein MES-4 is concentrated on autosomes and excluded from the X chromosomes. Here, we show that MES-4 has histone H3 methyltransferase (HMT) activity in vitro, and is required for histone H3K36 dimethylation in mitotic and early meiotic germline nuclei and early embryos. MES-4 appears unlinked to transcription elongation, thus distinguishing it from other known H3K36 HMTs. Based on microarray analysis, loss of MES-4 leads to derepression of X-linked genes in the germ line. We discuss how an autosomally associated HMT may participate in silencing genes on the X chromosome, in coordination with the direct silencing effects of the other MES proteins.

An XX/XY sex chromosome system in a fish species, Hoplias malabaricus, with a polymorphic NOR-bearing X chromosome.

Abstract: Cytogenetic studies were carried out in the fish, Hoplias malabaricus, from the Parque Florestal do Rio Doce (Brazil). This population is characterized by 2n = 42 chromosomes for both males and females and an XX/XY sex chromosome system, confirmed through several banding methods. Females show 24 metacentric, 16 submetacentric and 2 subtelocentric chromosomes. Males show 24 metacentric, 17 submetacentric and 1 subtelocentric chromosomes. While the X chromosome is easily recognized (the only subtelocentric element), the Y chromosome is somewhat difficult to identify but appears to correspond to the smallest submetacentric in the male karyotype. In-situ hybridization with an 18S rDNA probe showed 10 well-labeled chromosomes, including the X chromosome. The 5S rDNA is interstitially located in a single metacentric pair independent of the 18S rDNA sites. The NOR on the X chromosome is always active and occurs adjacent to a heterochromatic distal segment on the long arm. Variations in size of the NORs and/or heterochromatic segment correspond to a polymorphic size condition observed in the X chromosome. The present results confirm the XX/XY sex chromosome system in the population analyzed as well as a new cytotype in the Hoplias malabaricus group.

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology

Abstract: Mutations in the creatine transporter gene, SLC6A8 (MIM 30036), located in Xq28, have been found in families with X-linked mental retardation (XLMR) as well as in males with idiopathic mental retardation (MR). In order to estimate the frequency of such mutations in the MR population, a screening of 478 males with MR of unknown cause was undertaken. All 13 exons of SLC6A8 were sequenced using genomic DNA. Six novel potentially pathogenic mutations were identified that were not encountered in at least 588 male control chromosomes: two deletions (p.Asn336del, p.Ile347del) and a splice site alteration (c.1016+2C>T) are considered pathogenic based on the nature of the variant. A mutation (p.Arg391Trp) should be considered pathogenic owing to its localization in a highly conserved region. Two other missense variants (p.Lys4Arg, p.Gly26Arg) are not conserved but were not observed in over 300 male control chromosomes. Their pathogenicity is uncertain. A missense variant (p.Val182Met), was classified as a polymorphism based on a normal creatine/creatinine (Cr:Crn) ratio and cerebral creatine signal in proton magnetic resonance spectroscopy (H-MRS) in the patient. Furthermore, we found 14 novel intronic and neutral variants that were not encountered in at least 280 male control chromosomes and should be considered as unclassified variants. Our findings of a minimum of four pathogenic mutations and two potentially pathogenic mutations indicate that about 1% of males with MR of unknown etiology might have a SLC6A8 mutation. Thus, DNA sequence analysis and/or a Cr:Crn urine screen is warranted in any male with MR of unknown cause.

Origin of reproductive isolation in the absence of apparent genic differentiation in a geographic isolate of drosophila pseudoobscura

Abstract: F1 males obtained from the cross of D. pseudoobscura females from Bogota (Colombia) x males of this species from mainland, i.e. populations from various locations in the United States and from Guatemala, are sterile. This sterility is due to genes located on the X chromosome and the autosomes; the Y chromosome is not involved. The percentage of sterile males in backcrosses can be explained by assuming an interaction between two loci on the Bogota X chromosome and probably two loci, one each on two of the mainland autosomes. The role of founder events, inbreeding and geographic isolation in the development of reproductive isolation and the magnitude of gene differences responsible for the origin of reproductive isolation is discussed. It is concluded that founder events, inbreeding and geographic isolation play a major role in the development of reproductive isolation and that major adaptive incorporation of new alleles at a large number of structural loci is not necessary for the origin of reproductive isolation.

DPY-26, a Link Between Dosage Compensation and Meiotic Chromosome Segregation in the Nematode

Abstract: The DPY-26 protein is required in the nematode Caenorhabditis elegans for X-chromosome dosage compensation as well as for proper meiotic chromosome segregation. DPY-26 was shown to mediate both processes through its association with chromosomes. In somatic cells, DPY-26 associates specifically with hermaphrodite X chromosomes to reduce their transcript levels. In germ cells, DPY-26 associates with all meiotic chromosomes to mediate its role in chromosome segregation. The X-specific localization of DPY-26 requires two dosage compensation proteins (DPY-27 and DPY-30) and two proteins that coordinately control both sex determination and dosage compensation (SDC-2 and SDC-3).