Although we have initiated these databases, they are too many to be regularly updated and curated by us. We depend on the help of active volunteers to cope with this enormous task; a complete database is most helpful for users, especially for those using it trying to decide "is the variant found pathogenic or not". Do you perform sequence variant screening for any of these genes, please register and help to keep the databases up-to-date by submitting your findings (published and unpublished). Are you an expert for one of these genes or are you willing to help us, consider to become a curator (mail to; ddunnen @ HumGen.nl ...
The imprinted brain theory proposes that autism spectrum disorder (ASD) represents a paternal bias in the expression of imprinted genes. This is reflected in a preference for mechanistic cognition and in the corresponding mentalistic deficits symptomatic of ASD. Psychotic spectrum disorder (PSD) would correspondingly result from an imbalance in favor of maternal and/or X-chromosome gene expression. If differences in gene expression were reflected locally in the human brain as mouse models and other evidence suggests they are, ASD would represent not so much an extreme male brain as an extreme paternal one, with PSD correspondingly representing an extreme maternal brain. To the extent that copy number variation resembles imprinting and aneuploidy in nullifying or multiplying the expression of particular genes, it has been found to conform to the diametric model of mental illness peculiar to the imprinted brain theory. The fact that nongenetic factors such as nutrition in pregnancy can mimic ...
Alpha thalassemia X-linked intellectual disability (ATR-X) syndrome is a rare genetic disorder affecting multiple organ systems of the body. ATR-X syndrome is characterized by mental retardation, characteristic facial features, abnormalities of the genitourinary tract, and alpha thalassemia. Alpha thalassemia, which is...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for X-linked intellectual disability, Siderius type
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Mutations in human and/or mouse homologs are associated with this disease. Synonyms: mental retardation, X-linked syndromic, Raymond type; MRXSR
Vera M. Kalscheuer, Z. Iqbal, H. Hu, S.A. Haas, M. Shaw, N. Lebrun, E. Seemanova, K. Voesenek, L. Hobson, H.H. Ropers, S. Townshend, M. Raynaud, H. van Bokhoven, S. Riazuddin, J. Chelly, J. ...
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Sigma-Aldrich offers abstracts and full-text articles by [Loredana Poeta, Francesca Fusco, Denise Drongitis, Cheryl Shoubridge, Genesia Manganelli, Stefania Filosa, Mariateresa Paciolla, Monica Courtney, Patrick Collombat, Maria Brigida Lioi, Jozef Gecz, Matilde Valeria Ursini, Maria Giuseppina Miano].
X-linked gene expression in somatic cell hybrids before and after expression of XIST/Xist.(A-C) Shows the XIST/Xist expression in cell nuclei using RNA FISH p
Mutations in human and/or mouse homologs are associated with this disease. Synonyms: Lindsay-Burn syndrome; mental retardation with psychosis, pyramidal signs, and macroorchidism; mental retardation, X-linked, syndromic 13; MRXS13; PPM-X; X-linked mental retardation 79; X-linked mental retardation with spasticity
de Brouwer et al. A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy. European Journal of Human Genetics (2014) 22, 480-485. A very interesting observation, underlining the importance of dystrophin isoforms for the understanding of genotype-phenotype correlations in DMD-associated disorders. The authors describe a family with non-specific X-linked intellectual disability and no clinically observable […]. ...
Mutations in the Aristaless-related homeobox (ARX) gene are found in a spectrum of epilepsy and X-linked intellectual disability disorders. During development Arx is expressed in pallial ventricular zone (VZ) progenitor cells where the excitatory projection neurons of the cortex are born. Arx(-/Y) m …
The ATP6AP2 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant X-linked intellectual disability with epilepsy (PMID: 15746149).
ENCODES a protein that exhibits nucleic acid binding (ortholog); zinc ion binding (ortholog); ASSOCIATED WITH autistic disorder (ortholog); syndromic X-linked intellectual disability Lubs type (ortholog); FOUND IN nucleus (ortholog)
ENCODES a protein that exhibits lysozyme activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH autistic disorder; syndromic X-linked intellectual disability Lubs type; FOUND IN extracellular region (inferred)
Aug 14, · This detailed linkage map was applied to position the X-linked orange gene, placing this locus on the q arm of the X chromosome, as opposed to a previously reported location on the p arm. Fine mapping placed the locus between markers at positions and Mb in the current ×-coverage sequence assembly of the cat genome. Abnormalities of the sex chromosomes. About 1 in male and 1 in female live births demonstrate some form of sex chromosome abnormality, although the symptoms of these conditions are generally much less severe than are those associated with autosomal abnormalities. Turner syndrome is a condition of females who, in the classic form, carry only a single X chromosome (45,X).. Faulty gene x-chromosome sex linked traits in Baton Rouge
X-linked genes are found on the sex X chromosome. X-linked genes just like autosomal genes have both dominant and recessive types. Recessive X-linked disorders are rarely seen in females and usually only affect males. This is because males inherit their X chromosome and all X-linked genes will be inherited from the maternal side. Fathers only pass on their Y chromosome to their sons, so no X-linked traits will be inherited from father to son. Females express X-linked disorders when they are homozygous for the disorder and become carriers when they are heterozygous. An infamous recessive X-linked disorder is Hemophilia A. Hemophilia is a disorder where blood does not clot properly due to a shortage of clotting factor VIII. This disorder gained recognition as it traveled through royal families, notably the descendents of Britains Queen Victoria. X-linked dominant inheritance will show the same phenotype as a heterozygote and homozygote. Just like X-linked inheritance, there will be a lack of ...
Abstract: A faster rate of adaptive evolution of X-linked genes compared with autosomal genes may be caused by the fixation of new recessive or partially recessive advantageous mutations (the Faster-X effect). This effect is expected to be largest for mutations that affect only male fitness and absent for mutations that affect only female fitness. We tested these predictions in Drosophila melanogaster by using genes with different levels of sex-biased expression and by estimating the extent of adaptive evolution of non-synonymous mutations from polymorphism and divergence data. We detected both a Faster-X effect and an effect of male-biased gene expression. There was no evidence for a strong association between the two effects-modest levels of male-biased gene expression increased the rate of adaptive evolution on both the autosomes and the X chromosome, but a Faster-X effect occurred for both unbiased genes and female-biased genes. The rate of genetic recombination did not influence the ...
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TY - JOUR. T1 - Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome).. AU - Schwartz, Charles E.. AU - Wang, Xaiojing. AU - Stevenson, Roger E.. AU - Pegg, Anthony. PY - 2011/5/25. Y1 - 2011/5/25. N2 - Polyamines, small positively charged molecules, are vital for cell proliferation and differentiation. They are found ubiquitously in eukaryotic cells. Additionally, they interact with a wide range of other molecules and some membrane associated receptors. Polyamines, spermidine and spermine, are synthesized by two aminopropyltransferases, spermidine synthase and spermine synthase. Recently, mutations in the latter enzyme have been shown to be responsible for an X-linked intellectual disability condition known as Snyder-Robinson syndrome. Spermine synthase deficiency is thus far the only known polyamine deficiency syndrome in humans.. AB - Polyamines, small positively charged molecules, are vital for cell proliferation and differentiation. They are ...
X-linked intellectual disability, Siderius type is caused by mutations in the PHF8 gene. This gene provides instructions for making a protein that is found in the nucleus of cells, particularly in brain cells before and just after birth. The PHF8 protein attaches (binds) to complexes called chromatin to regulate the activity (expression) of other genes. Chromatin is the network of DNA and protein that packages DNA into chromosomes. Binding with the PHF8 protein is part of the process that changes the structure of chromatin (chromatin remodeling) to alter how tightly regions of DNA are packaged. Chromatin remodeling is one way gene expression is regulated; when DNA is tightly packed, gene expression is often lower than when DNA is loosely packed.. Most PHF8 gene mutations lead to an abnormally short protein that gets transported out of the cells nucleus. Outside of the nucleus, the PHF8 protein cannot interact with chromatin to regulate gene expression. While the exact disease mechanism is ...
CASK-related disorders include a spectrum of phenotypes in both females and males. The two main types of clinical presentation are: Microcephaly with pontine and cerebellar hypoplasia (MICPCH), generally associated with pathogenic loss-of-function variants in CASK; and X-linked intellectual disability (XLID) with or without nystagmus, generally associated with hypomorphic CASK pathogenic variants. MICPCH is typically seen in females with moderate to severe intellectual disability, progressive microcephaly with or without ophthalmologic anomalies, and sensorineural hearing loss. To date a total of 53 females with MICPCH have been reported, the eldest of whom is 21 years old. Most are able to sit independently; 20%-25% attain the ability to walk; language is nearly absent in most. Neurologic features may include axial hypotonia, hypertonia/spasticity of the extremities, and dystonia or other movement disorders. Nearly 40% have seizures. Behaviors may include sleep disturbances, hand stereotypies, and self
DESCRIPTION (provided by applicant): KDM5 family transcriptional regulators are increasingly recognized as critical players at the interface of development and human disease. Mammalian cells encode four KDM5 paralogs (KDM5A-D), three of which are clinically significant: KDM5A or KDM5B are overexpressed in a number of cancers including breast, colorectal and melanoma, and mutations in KDM5C account for ~3% of X-linked intellectual disability patients. A lack of basic knowledge regarding the mechanisms of KDM5 action has hindered the development of therapies to treat these diseases. The long-term goal of these studies is therefore to dissect the gene- regulatory functions of KDM5 proteins using Drosophila, since the presence of a single KDM5 protein in this organism bypasses the issue of functional redundancy in mammalian cells. Previous data showed that KDM5 proteins can repress transcription via their histone demethylase activity and can activate gene expression by altering histone acetylation. ...
p,Chromatin entry sites (CES) are 100- to 1,500-bp elements that recruit male-specific lethal (MSL) complexes to the X chromosome to upregulate expression of X-linked genes in male flies. CES contain one or more ∼20-bp GA-rich sequences called MSL recognition elements (MREs) that are critical for dosage compensation. Recent studies indicate that CES also correspond to boundaries of X-chromosomal topologically associated domains (TADs). Here, we show that an ∼1,000-kDa complex called the late boundary complex (LBC), which is required for the functioning of the Bithorax complex boundary , interacts specifically with a special class of CES that contain multiple MREs. Mutations in the MRE sequences of three of these CES that disrupt function abrogate interactions with the LBC. Moreover, reducing the levels of two LBC components compromises MSL recruitment. Finally, we show that several of the CES that are physically linked to each other are LBC interactors.,/p,. ...
Fingerprint Dive into the research topics of Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2. Together they form a unique fingerprint. ...
Pgk-1 is an X-linked gene encoding 3-phosphoglycerate kinase, an enzyme necessary in every cell for glycolysis. The regulatory sequences of the Pgk-1 gene were used to drive the E. coli lacZ reporter gene and 2 strains of transgenic animals created with this Pgk-lacZ transgene carried on autosomes. …
MalaCards based summary : X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis, is also known as x-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome. Related phenotypes are agenesis of corpus callosum and intellectual disability ...
Yekhlef L, Breschi GL, and Taverna S (2017). Optogenetic activation of VGLUT2-expressing excitatory neurons blocks epileptic seizure-like activity in the mouse entorhinal cortex. Scientific Reports 7: 43230. doi: 10.1038/srep43230.. Morè L, Künnecke B, Yekhlef L, Bruns A, Marte A, Fedele E, Bianchi V, Taverna S, Gatti S, DAdamo P. (2017). Altered fronto-striatal functions in the Gdi1-null mouse model of X-linked Intellectual Disability. Neuroscience 344: 346-359. doi: 10.1016/j.neuroscience.2016.12.043.. Rubio A, Luoni M, Giannelli SG, Radice I, Iannielli A, Cancellieri C, Di Berardino C, Regalia G, Lazzari G, Menegon A, Taverna S, Broccoli V (2016). Rapid and efficient CRISPR/Cas9 gene inactivation in human neurons during human pluripotent stem cell differentiation and direct reprogramming. Scientific Reports 6: 37540. doi: 10.1038/srep37540.. Orellana DI, Santambrogio P, Rubio A, Yekhlef L, Cancellieri C, Dusi S, Giannelli SG, Venco P, Mazzara PG, Cozzi A, Ferrari M, Garavaglia B, Taverna ...
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Pre-implantation embryos exhibit sexual dimorphisms in both primates and rodents. To determine whether these differences reflected sex-biased expression patterns, we generated transcriptome profiles for six 40,XX, six 40,XY, and two 39,X mouse embryonic stem (ES) cells by RNA sequencing. We found hundreds of coding and non-coding RNAs that were differentially expressed between male and female cells. Surprisingly, the majority of these were autosomal and included RNA encoding transcription and epigenetic and chromatin remodeling factors. We showed differential Prdm14-responsive enhancer activity in male and female cells, correlating with the sex-specific levels of Prdm14 expression. This is the first time sex-specific enhancer activity in ES cells has been reported. Evaluation of X-linked gene expression patterns between our XX and XY lines revealed four distinct categories: (1) genes showing 2-fold greater expression in the female cells; (2) a set of genes with expression levels well above 2-fold in
Meiotic sex chromosome inactivation (MSCI) during spermatogenesis is characterized by transcriptional silencing of genes on both the X and Y chromosomes in mid...
In learning genetics, many students misunderstand and misinterpret what "dominance" means. Understanding is easier if students realize that dominance is not a mechanism, but rather a consequence of underlying cellular processes. For example, metabolic pathways are often little affected by changes in enzyme concentration. This means that enzyme-producing alleles usually show complete dominance. For genes producing nonenzymatic proteins such as collagen or hemoglobin, the amount of product matters, and dominance relationships are more complicated. Furthermore, with hemoglobin, dominance can change depending on what aspect of the phenotype is being studied and on the environmental conditions. X-linked genes are a special case, whether enzymatic or not. Because of X-chromosome inactivation, only one X-linked allele can be active in a cell, which means that the concept of dominance cannot be applied at the cellular level. Instead, a type of dominance is demonstrated at the individual level; but even ...
CRC is one of the most common malignant diseases globally (1). Recently, the function of SMC1 in CRC has attracted increasing attention, with evidence suggesting that the cohesin multiprotein complex is implicated in several diseases, including colorectal cancer (25-27). The cohesin multiprotein complex includes four major subunits: SMC1, SMC3, sister chromatid cohesion (SCC) protein 1 and SCC3. The cohesin multiprotein complex plays an important role in the regulation of transcription and development (28,29). SMC1 is an X-linked gene that can escape X-inactivation in humans, but is subject to X-inactivation in mice (30). Several mutations have been identified in the SMC1 gene, all of which are missense or small deletion mutations (12,20). Although SMC1 mutations have been reported in CRC (21,22), the role of SMC1 in CRC remains unclear. Therefore, elucidating how SMC1 is involved in CRC is of great importance.. In the present study, it was demonstrated that SMC1 was significantly upregulated in ...
Many studies have supported a genetic etiology for autism. Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. These mutations affect cell-adhesion molecules localized at the synapse and suggest that a defect of synaptogenesis may predispose to autism. ...
Video created by The University of Melbourne for the course Epigenetic Control of Gene Expression. X chromosome inactivation is a really well-characterised epigenetic process that is now used as a model system to study epigenetic processes that ...
Inhibiting TGF-β genes decreases XIST RNA levels allowing for expression of previously silenced X-linked genes including MeCP2 - may serve as Rett syndrome therapy.
In contrast, if assignment to paternal groups could be done without error, increasing either the number of offspring or the number of broods (while holding the other steady) would lead to improved estimation of β. This seems to continue to hold in our situation where we have imperfect parentage information: There are not marked differences in the distributions of β estimates when the same total numbers of typed offspring are used.. X-linked or multiple loci improve estimation of β by better resolving paternity. Our simulations show X-linked loci are effective at resolving alternative fathers, and thus improving estimation of β, without additionally biasing the estimate of α. Thus it seems that when only a small number of offspring can be typed, switching to use of an X-linked locus is a better way to improve the parentage information than using multiple autosomal loci. Once the number of offspring per brood is large enough to ensure a high probability of including offspring from all mates, ...
Lakisic G, Lebreton A, Pourpre R, Wendling O, Libertini E, Radford EJ, Le Guillou M, Champy MF, Wattenhofer-Donzé M, Soubigou G, Ait-Si-Ali S, Feunteun J, Sorg T, Coppée JY, Ferguson-Smith AC, Cossart P, Bierne H*. Role of the BAHD1 Chromatin-Repressive Complex in Placental Development and Regulation of Steroid Metabolism. PLoS Genetics. 2016 Mar 3;12(3):e1005898.. Libertini E, Lebreton A, Lakisic G, Dillies MA, Beck S, Coppée JY, Cossart P, Bierne H*. Overexpression of the Heterochromatinization Factor BAHD1 in HEK293 Cells Differentially Reshapes the DNA Methylome on Autosomes and X Chromosome. ...
The rule Ive been going by is if there is 1/4 affected offspring its a recessive allele causing the disorder. If there are two or more/4 affected offspring then its a dominant allele causing the disorder. Is this correct in all cases (if any)?! And how do you then tell if its an x-linked disorder instead of an autosomal one ...
Sigma-Aldrich offers abstracts and full-text articles by [Melanie May, Kyu-Seok Hwang, Judith Miles, Charlie Williams, Tejasvi Niranjan, Stephen G Kahler, Pietro Chiurazzi, Katharina Steindl, Peter J Van Der Spek, Sigrid Swagemakers, Jennifer Mueller, Shannon Stefl, Emil Alexov, Jeong-Im Ryu, Jung-Hwa Choi, Hyun-Taek Kim, Patrick Tarpey, Giovanni Neri, Lynda Holloway, Cindy Skinner, Roger E Stevenson, Richard I Dorsky, Tao Wang, Charles E Schwartz, Cheol-Hee Kim].
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3MGX: Structural characterization of oxyd, a cytochrome p450 involved in {beta}-hydroxytyrosine formation in vancomycin biosynthesis
TY - JOUR. T1 - Chromosome-wide nucleosome replacement and H3.3 incorporation during mammalian meiotic sex chromosome inactivation. AU - Van Der Heijden, Godfried W.. AU - Derijck, Alwin A.H.A.. AU - Pósfai, Eszter. AU - Giele, Maud. AU - Pelczar, Pawel. AU - Ramos, Liliana. AU - Wansink, Derick G.. AU - Van Der Vlag, Johan. AU - Peters, Antoine H.F.M.. AU - De Boer, Peter. PY - 2007/2/1. Y1 - 2007/2/1. N2 - In mammalian males, the first meiotic prophase is characterized by formation of a separate chromatin domain called the sex body. In this domain, the X and Y chromosomes are partially synapsed and transcriptionally silenced, a process termed meiotic sex-chromosome inactivation (MSCI). Likewise, unsynapsed autosomal chromatin present during pachytene is also silenced (meiotic silencing of unsynapsed chromatin, MSUC). Although it is known that MSCI and MSUC are both dependent on histone H2A.X phosphorylation mediated by the kinase ATR, and cause repressive H3 Lys9 dimethylation, the mechanisms ...
Female mammals inactivate one of the two X chromosomes in each somatic cell in order to balance the X-linked gene dosage between females and males (X chromosome inactivation, XCI). This process is mediated by non-coding RNA X inactive specific transcript (Xist). Here, I show that, when embryonic stem (ES) cells were cultured under undifferentiated condition, inducible Xist was sufficient to silence genes in vitro. Furthermore, the induced XCI was counteracted by the endogenous capability of X chromosome reactivation (XCR) in the pluripotent ES cells. Thus, perturbing XCR players should tip the balance towards stronger gene silencing effects. Using this experimental system, we show that shRNA knock- down of histone acetyltransferase Kat8 and its associated protein from Male Specific Lethal (MSL) complex, Msl2, significantly enhanced the gene silencing effect of induced XCI in undifferentiated ES cells. Interestingly, Kat8 and Msl2 are involved in Drosophila dosage compensation by up-regulating ...
The figure shows that a paternal grandmother (PGM) is more closely related to her granddaughter because the granddaughter carries a more or less exact replica of one of her X Chromosomes (the blue X chromosome in the figure) while her grandson carries neither or her X Chromosomes. Theoretically, she should prefer her granddaughter to her grandson. The maternal grandmother (MGM) is equally related to grandson and granddaughter, so she should not show favoritism. The chromosomes with red and black parts result from recombination (crossover) during meiosis.. The mother has two X chromosomes herself, so the probability of the mother passing any specific X chromosome gene to either a boy or a girl child is likewise 0.5. Therefore, the probability of any specific X chromosome gene being passed on from a maternal grandmother to a grandchild is 0.25 (0.5 x 0.5). From the standpoint of the maternal grandmother, there is no difference between grandson and granddaughter in X-chromosome relatedness and, ...
We showed that a set of X-linked genes called X-signal elements (XSEs) communicates X-chromosome dose by repressing the master sex-determination switch gene xol-1 in a cumulative, dose-dependent manner. XOL-1, a GHMP kinase, is activated in 1X:2A embryos (1 dose of XSEs) to set the male fate but repressed in 2X:2A embryos (2 doses of XSEs) to promote the hermaphrodite fate, including the activation of X-chromosome dosage compensation. We also showed that the dose of autosomes is communicated by a set of autosomal signal elements (ASEs) that also act in a cumulative, dose-dependent manner to counter XSEs by stimulating xol-1 transcription. We have explored the biochemical basis by which XSEs counter ASEs to determine sex. Analysis in vitro showed that XSEs (nuclear receptors and homeodomain proteins) and ASEs (T-box and zinc-finger proteins) bind directly to at least 5 distinct sites in xol-1 regulatory DNA to counteract each others activities and thereby regulate xol-1 transcription (Figure 2). ...
In the current study, we identified dpy-21 and the dosage compensation complex (DCC) as negative regulators of development acting downstream of the TORC2/SGK-1 pathway. dpy-21 suppressed rict-1 developmental delay in a reverse genetic, RNAi screen of candidate SGK-1 targets. dpy-21 has been broadly characterized in C. elegans as a member of the DCC, which is involved in downregulation of the hermaphroditic X chromosome by 50% in order to prevent overexpression of potentially toxic X-linked genes (Yonker and Meyer, 2003; Meyer, 2005). We find in this study that wild-type dpy-21 operates downstream of the TORC2 pathway to regulate developmental rate in larval stage worms, to increase body fat and to reduce brood size. Thus, reduction in function of dpy-21 or other members of the DCC by RNAi in rict-1 mutants reverses the slow developmental rate, lowers body fat and raises brood size. RNAi to dpy-21, however, has negative effects on rict-1 mutant body size and longevity, resulting in a reduced ...