Chromosome-level genome assembly of the sweet potato rot nematode Ditylenchus destructor by Yiwei Yang, Ruirui Feng, Bo Hong, Yuchuan Fang, Chen Liu, Kui Wang, Deliang Peng, Yingmei Li, Huan Peng, Qing Chang

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Understanding Rett Syndrome: Genetic, clinical and therapeutic perspectives - literature review by Sylwia Urbańska, Aleksandra Witas, Martyna Borowska-Łygan, Justyna Pięta

“…Brief Description of the State of Knowledge: Rett syndrome is characterised by a loss-of-function mutation in the MECP2 gene, which is located on the long arm of the X chromosome. The diagnosis is confirmed by clinical criteria such as complete loss of acquired targeted hand skills, spoken language, gait abnormalities and confirmation of the mutation in the MECP2 gene. …”
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Clinical management of female patients with Fabry disease based on expert consensus by Eva Brand, Aleš Linhart, Patrick Deegan, Ruxandra Jurcut, Antonio Pisani, Roser Torra, Ulla Feldt-Rasmussen

“…It was suggested that the high phenotypic variability in female patients may be related to the dynamic nature of the X-chromosome inactivation process and further understanding of this process could help predict the progression of Fabry disease in females and facilitate timely intervention. …”
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Hippocampal CA1 Pyramidal Neurons of Mecp2 Mutant Mice Show a Dendritic Spine Phenotype Only in the Presymptomatic Stage by Christopher A. Chapleau, Elena Maria Boggio, Gaston Calfa, Alan K. Percy, Maurizio Giustetto, Lucas Pozzo-Miller

“…Alterations in dendritic spines have been documented in numerous neurodevelopmental disorders, including Rett Syndrome (RTT). RTT, an X chromosome-linked disorder associated with mutations in MECP2, is the leading cause of intellectual disabilities in women. …”
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Sex-biased gene expression across tissues reveals unexpected differentiation in the gills of the threespine stickleback by Sylvestre, Florent, Aubin-Horth, Nadia, Bernatchez, Louis

“…However, sex-biased expression of genes that have conserved copies on both sex chromosomes is likely driven by the degeneration of Y allele expression and a down-regulation of male-beneficial mutations on the X chromosome.…”
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Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings by Michele Minerva, Lorenzo Perilli, Samanta Carbone, Margherita Maria Rossi, Federica Lotti, Luisa Lonoce, Maria Rosaria Curcio, Salvatore Grosso

“…Background/Objectives: ZNF711(Zinc finger protein 711) encodes a zinc finger protein of currently undefined function, located on the X chromosome. Current knowledge includes a limited number of case reports where this gene has been exclusively associated with X-linked intellectual disability (XLID). …”
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Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiency by Sebastián Gutiérrez-Hincapié, Julio César Orrego, José Luis Franco, Claudia M. Trujillo-Vargas

“…The patient presented a nonsense variant in the exon 3 of the MAGT1 gen (c.409C>T, rs387906724) in the X chromosome, resulting in an amino acid substitution of arginine for a stop codon in the position 137 of the protein (R137X). …”
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X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1–4 Genes by Aleksandra Rojek, Maciej R. Krawczynski, Aleksander Jamsheer, Anna Sowinska-Seidler, Barbara Iwaniszewska, Ewa Malunowicz, Marek Niedziela

“…We show that NR0B1 (DAX1) gene analysis is important for confirmation of AHC diagnosis and highlights the role of genetic counseling in families with AHC patients, particularly those with X chromosome microdeletions, covering more than NR0B1 (DAX1) alone. …”
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A case of 49,XXXYY followed-up from infancy to adulthood with review of literature by Junko Kanno, Akinobu Miura, Sayaka Kawashima, Hirohito Shima, Dai Suzuki, Miki Kamimura, Ikuma Fujiwara, Masayuki Kamimura, Mitsugu Uematsu, Masataka Kudo, Atsuo Kikuchi

“…Aneuploidy of the X chromosome can lead to various progressive complications due to excess X chromosomes. …”
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Multi-omic spatial effects on high-resolution AI-derived retinal thickness by V. E. Jackson, Y. Wu, R. Bonelli, J. P. Owen, L. W. Scott, S. Farashi, Y. Kihara, M. L. Gantner, C. Egan, K. M. Williams, B. R. E. Ansell, A. Tufail, A. Y. Lee, M. Bahlo

“…Analysis of common genomic variants, metabolomic, blood and immune biomarkers, disease PheCodes and genetic scores across a fine-scale macular thickness grid, reveals multiple novel genetic loci including four on the X chromosome; retinal thinning associated with many systemic disorders including multiple sclerosis; and multiple associations to correlated metabolites that cluster spatially in the retina. …”
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Chromatin environment-dependent effects of DOT1L on gene expression in male germ cells by Manon Coulée, Alberto de la Iglesia, Mélina Blanco, Clara Gobé, Clémentine Lapoujade, Côme Ialy-Radio, Lucia Alvarez-Gonzalez, Guillaume Meurice, Aurora Ruiz-Herrera, Pierre Fouchet, Julie Cocquet, Laïla El Khattabi

“…On the other hand, it activates the expression of genes enriched in H3K79me2 and located in H3K27me3-poor/H3K27ac-rich environments, predominantly X chromosome-linked genes, after meiosis I. This coincides with a significant increase in DOT1L expression at this stage and a genome-wide acquisition of H3K79me2, particularly on the sex chromosomes. …”
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Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyperprolificacy phenotype in sheep. by Julie Demars, Stéphane Fabre, Julien Sarry, Raffaella Rossetti, Hélène Gilbert, Luca Persani, Gwenola Tosser-Klopp, Philippe Mulsant, Zuzanna Nowak, Wioleta Drobik, Elzbieta Martyniuk, Loys Bodin

“…In both populations, an X chromosome region, close to the BMP15 gene, harbored clusters of markers with suggestive evidence of association at significance levels between 1E(-05) and 1E(-07). …”
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Targeting of retrovirus-derived Rtl8a/8b causes late-onset obesity, reduced social response and increased apathy-like behaviour by Yoshifumi Fujioka, Hirosuke Shiura, Masayuki Ishii, Ryuichi Ono, Tsutomu Endo, Hiroshi Kiyonari, Yoshikazu Hirate, Hikaru Ito, Masami Kanai-Azuma, Takashi Kohda, Tomoko Kaneko-Ishino, Fumitoshi Ishino

“…They cluster as a triplet of genes on the X chromosome, but their function remains unknown. Here, we demonstrate that Rtl8a and Rtl8b play important roles in the brain: their double knockout (DKO) mice not only exhibit reduced social responses and increased apathy-like behaviour, but also become obese from young adulthood, similar to patients with late Prader–Willi syndrome (PWS), a neurodevelopmental genomic imprinting disorder. …”
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An association between type A porcine endogenous retrovirus copy number and hematological parameters and gender in miniature pigs by R. B. Aitnazarov, S. V. Nikitin, G. V. Kontsevaya, M. I. Voevoda, N. S. Yudin

“…Presence of multiple copies of PERV-A on the X-chromosome is the most probable cause of such gender-related differences in miniature pigs. …”
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Heterochrony in orthodenticle expression is associated with ommatidial size variation between Drosophila species by Montserrat Torres-Oliva, Elisa Buchberger, Alexandra D. Buffry, Maike Kittelmann, Genoveva Guerrero, Lauren Sumner-Rooney, Pedro Gaspar, Georg C. Bullinger, Javier Figueras Jimenez, Fernando Casares, Saad Arif, Nico Posnien, Maria D. S. Nunes, Alistair P. McGregor, Isabel Almudi

“…Results Here, we used a combination of fine-scale mapping and gene expression analysis to further investigate positional candidate genes on the X chromosome. We found earlier expression of orthodenticle (otd) during ommatidial maturation in D. mauritiana than in D. simulans, and we show that this gene is required for the correct organisation and size of ommatidia in D. melanogaster. …”
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Titin fragment is a sensitive biomarker in Duchenne muscular dystrophy model mice carrying full-length human dystrophin gene on human artificial chromosome by Yosuke Hiramuki, Miwa Hosokawa, Kayo Osawa, Taku Shirakawa, Yasuhiro Watanabe, Ritsuko Hanajima, Hiroyuki Kugoh, Hiroyuki Awano, Masafumi Matsuo, Yasuhiro Kazuki

“…Abstract Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutations of the dystrophin gene, which spans 2.4 Mb on the X chromosome. Creatine kinase (CK) activity in blood and titin fragment levels in urine have been identified as biomarkers in DMD to monitor disease progression and evaluate therapeutic intervention. …”
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Genotype-Phenotype Correlation of G6PD Mutations among Central Thai Children with G6PD Deficiency by Boonchai Boonyawat, Tim Phetthong, Nithipun Suksumek, Chanchai Traivaree

“…Only 1 in 27 heterozygous females (3.7%) had G6PD level in the affected male range (9 IU/ml.RBC) which is possibly explained by nonrandom X-chromosome inactivation. The correlation of genotypes, G6PD levels, and clinical phenotypes was not demonstrated in our study in which all of the included G6PD-deficient patients were presented with neonatal hyperbilirubinemia and acute hemolytic anemia, since the genotype-phenotype correlation is normally demonstrated in chronic nonspherocytic hemolytic anemia (CNSHA) G6PD-deficient individuals. …”
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Candidate SNP-markers altering TBP binding affinity for promoters of the Y-linked genes CDY2A, SHOX, and ZFY are lowering many indexes of reproductive potential in men by M. P. Ponomarenko, E. B. Sharypova, I. A. Drachkova, L. K. Savinkova, I. V. Chadaeva, D. A. Rasskazov, P. M. Ponomarenko, L. V. Osadchuk, A. V. Osadchuk

“…With our development named Web-service SNP_TATA_Z-tester, we examined in silico all 35 unannotated SNPs within 70-bp proximal promoters of the three Y-linked genes, CDY2A, SHOX and ZFY, which represent all types of human Y-chromosome genes, namely: unique, pseudo-autosomal, and human X-chromosome gene paralogs, respectively. As a result, we found 11 candidate SNP markers for MRP, which can significantly alter the TATA-binding protein (TBP) binding affinity for promoters of these genes. …”
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TMEM187-IRAK1 Polymorphisms Associated with Rheumatoid Arthritis Susceptibility in Tunisian and French Female Populations: Influence of Geographic Origin by Olfa Khalifa, Nathalie Balandraud, Nathalie Lambert, Isabelle Auger, Jean Roudier, Audrey Sénéchal, David Geneviève, Christophe Picard, Gérard Lefranc, Isabelle Touitou, Bakridine M’Madi Mrenda, Cécilia Benedito, Etienne Pardoux, Anne-Laure Gagez, Yves-Marie Pers, Christian Jorgensen, Touhami Mahjoub, Florence Apparailly

“…Our data further support the involvement of X chromosome in RA susceptibility and evidence ethnicities differences that might be explained by differences in the frequencies of SE HLA-DRB1 alleles between both populations.…”
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Dynamics and regulatory roles of RNA m6A methylation in unbalanced genomes by Shuai Zhang, Ruixue Wang, Kun Luo, Shipeng Gu, Xinyu Liu, Junhan Wang, Ludan Zhang, Lin Sun

“…RNA m6A modification in Drosophila has proven to be involved in sex determination regulated by Sxl and may affect X chromosome expression through the MSL complex. The dosage-related effects under the condition of genomic imbalance (i.e. aneuploidy) are related to various epigenetic regulatory mechanisms. …”
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