Annexe: Rett Syndrome and MeCP2 Mutations

<p>They are moderate and could potentially contribute to some aspects of the phenotype. (A)</p> Signup and view all the answers

<p>All of the above. (D)</p> Signup and view all the answers

<p>It has a novel N-terminus. (B)</p> Signup and view all the answers

<p>More than 90% (C)</p> Signup and view all the answers

<p>Typically affects males. (B)</p> Signup and view all the answers

<p>Progressive decline in mental and physical abilities after a period of normal development. (D)</p> Signup and view all the answers

<p>Mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2). (B)</p> Signup and view all the answers

<p>MeCP2 is a transcription repressor that binds to methylated CpG dinucleotides and alters chromatin structure. (B)</p> Signup and view all the answers

<p>Abnormalities in RNA splicing. (C)</p> Signup and view all the answers

<p>One in every 10,000–15,000 females. (A)</p> Signup and view all the answers

<p>It is an indicator of abnormal brain development. (A)</p> Signup and view all the answers

<p>To present a comprehensive overview of Rett syndrome and related disorders. (C)</p> Signup and view all the answers

<p>The specific genetic mutation causing the disorder. (A)</p> Signup and view all the answers

<p>It acts as a repressor of transcription, halting or reducing gene expression. (D)</p> Signup and view all the answers

<p>This complex is recruited by MeCP2 to facilitate gene silencing by modifying histone modifications. (B)</p> Signup and view all the answers

<p>Demonstrating that MeCP2 protein was capable of repressing gene expression in vitro. (B)</p> Signup and view all the answers

<p>It leads to the production of a truncated protein lacking a functional transcription repression domain. (C)</p> Signup and view all the answers

<p>2 kilobases (C)</p> Signup and view all the answers

<p>Forebrain, hippocampus and brainstem (B)</p> Signup and view all the answers

<p>It caused a delay in the onset of phenotypes similar to those observed in knockout mice. (A)</p> Signup and view all the answers

<p>Early-onset bipolar disorder (A)</p> Signup and view all the answers

<p>MeCP2 represses transcription by binding to methylated DNA. (B)</p> Signup and view all the answers

<p>MeCP2 is primarily involved in neuronal maturation, influencing the development of mature neuronal functions. (B)</p> Signup and view all the answers

<p>MeCP2 deficiency contributes to Rett syndrome, resulting in impaired neuronal maturation and dysfunction. (C)</p> Signup and view all the answers

<p>Mutations in genes responsible for the synthesis of neurotransmitters. (C)</p> Signup and view all the answers

<p>MeCP2's ability to repress transcription suggests it interacts with the machinery responsible for gene expression. (B)</p> Signup and view all the answers

<p>It implies that MeCP2 can regulate transcription of genes located far away from its binding site. (C)</p> Signup and view all the answers

<p>MeCP2 dysfunction may contribute to other neurodevelopmental disorders besides Rett syndrome. (A)</p> Signup and view all the answers

<p>MeCP2 dysfunction leads to various neurological issues, including those observed in Rett syndrome. (A)</p> Signup and view all the answers

<p>It provides insights into mechanisms of epigenetic memory. (C)</p> Signup and view all the answers

<p>Rett-causing mutations that were not associated with the previous isoform. (C)</p> Signup and view all the answers

<p>It is detrimental, causing progressive neurological impairments. (C)</p> Signup and view all the answers

<p>MeCP2 links DNA methylation to histone methylation. (D)</p> Signup and view all the answers

<p>Early onset seizures with Rett-like features. (D)</p> Signup and view all the answers

<p>It holds promise for understanding epigenetic mechanisms. (B)</p> Signup and view all the answers

<p>As a complex neurological and behavioral disorder. (C)</p> Signup and view all the answers

<p>Examining gene mutations linked to specific protein isoforms. (A)</p> Signup and view all the answers

<p>Rett-like phenotype (B)</p> Signup and view all the answers

<p>Symptoms mimicking Rett syndrome (A)</p> Signup and view all the answers

<p>Abnormalities in social interactions (B)</p> Signup and view all the answers

<p>Impaired synaptic function (C)</p> Signup and view all the answers

<p>It specifies chromosomal localization (D)</p> Signup and view all the answers

<p>Increased sensory processing (B)</p> Signup and view all the answers

<p>Symptoms resembling Rett syndrome (A)</p> Signup and view all the answers

<p>Alterations in memory formation (B)</p> Signup and view all the answers

A gene associated with Rett syndrome that encodes a protein involved in gene regulation.

A neurodevelopmental disorder mainly affecting girls, characterized by normal early development followed by loss of skills.

A variant of mRNA produced from the same gene due to alternative splicing, leading to different protein variants.

A gene linked to early-onset seizures and Rett-like features, known for its role in neurodevelopment.

The process where cells remember gene expression changes despite identical DNA sequences, often influenced by external factors.

The addition of a methyl group to DNA, influencing gene expression without altering the sequence.

Progressive loss of functions related to neuron activity, leading to neurological disorders.

An enzyme that maintains DNA methylation patterns during cell division.

A gene encoding ubiquitin protein ligase E3A, involved in protein degradation.

Genes influenced by glucocorticoids, hormones that regulate stress responses.

A transcription factor involved in neurodevelopment, misexpressed in Rett syndrome.

Changes in gene expression levels that affect the phenotype.

A process that generates multiple protein isoforms from a single gene.

Observable traits that result from genetic or environmental influences.

A type of genetic inheritance where the gene causing the disorder is found on the X chromosome.

Symptoms related to the nervous system that arise from disorders like Rett syndrome.

Key skills and physical abilities that children typically develop at certain ages; delay signals disorders.

Abnormally small head size, often associated with developmental disorders like Rett syndrome.

Changes in the process of modifying RNA, which may lead to misregulated gene expression in Rett syndrome.

When genes are not expressed correctly, leading to dysfunction; a key feature of Rett syndrome pathology.

A protein that binds to methylated DNA and is key in neurodevelopment.

Proteins that interact with methylated CpG sites in DNA, affecting gene regulation.

A mutation eliminating the MeCP2 gene in mice, causing symptoms similar to Rett syndrome.

An increase in acetylation of histone H3, typically linked to gene activation.

Deficits in acquiring and retaining information, observed in mutant mice models.

The ability of synapses to strengthen or weaken over time, crucial for learning.

Changes or deficits in social behavior, often noted in rodent models of Rett syndrome.

A set of clinical phenotypes resulting from mutations in the MECP2 gene affecting neurological functions.

A severe neurodevelopmental disorder predominantly affecting females, characterized by loss of purposeful hand use and speech development.

A form of Rett syndrome where some abilities, like speech or hand function, remain intact.

A severe developmental disorder in infants, linked to MeCP2 gene dysfunction, leading to cognitive impairment.

A neuro-genetic disorder that can appear similar to Rett syndrome, characterized by developmental delay and seizures.

Genetic mutations leading to an increase in copies of the MECP2 gene, causing severe cognitive and physical impairment in those affected.

The process by which MeCP2 regulates gene expression by inhibiting transcription in certain contexts.

Mice genetically modified to lack the MeCP2 gene, used in research to study the effects of MeCP2 dysfunction.

Organic compounds that serve as neurotransmitters and play roles in mood and cognition.

The process by which neurons develop their functions and characteristics.

The structural alteration of chromatin that influences gene expression.

Genes with expression linked to MECP2 deficiency and involved in neurological functions.

The epigenetic phenomenon where genes are expressed in a parent-of-origin manner.

The process by which brain-derived neurotrophic factor (BDNF) is controlled, important for neuron survival and growth.