Humans sequences microsatellites gene contains trinucleotide repeat expansion. Medical search. Frequent questions

In other words, the direct repeats are nucleotide sequences present in multiple copies in the genome. (wikipedia.org)
There are several types of repeated sequences : Interspersed (or dispersed) DNA repeats (interspersed repetitive sequences) are copies of transposable elements interspersed throughout the genome. (wikipedia.org)
In directly repeated sequences of the tobacco plant genome, DNA double-strand breaks can be efficiently repaired by homologous recombination between the repeated sequences. (wikipedia.org)
Siebert R, Puchta H. Efficient repair of genomic double-strand breaks by homologous recombination between directly repeated sequences in the plant genome. (wikipedia.org)
Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of human diseases including amyotrophic lateral sclerosis, Friedreich ataxia, Huntington disease, and fragile X syndrome. (biomedcentral.com)
To estimate the genome-wide pattern of mutations at STR loci, we analyze blood-derived whole-genome sequencing data for 544 individuals from 29 three-generation CEPH pedigrees. (biomedcentral.com)
Some of these tools are designed to detect STR expansions at disease-related loci, while others detect expansions and contractions of STRs genome-wide but are constrained by sequencing read length and the STR motif size. (biomedcentral.com)
Short tandem repeats (STRs) are widely present in the human genome. (researchsquare.com)
Short tandem repeats (STRs), also known as microsatellites, are repetitive DNA sequences consisting of 1-6-bp motifs present in a genome. (researchsquare.com)
On average, STR loci occur every 15 kb in the human genome. (researchsquare.com)
human whole-genome. (scirp.org)
New technologies such as next-generation sequencing (including whole exome or whole genome sequencing) are expanding testing options, discovering new mutations, and creating challenges in counseling, interpreting, and reporting results to the patient. (medlink.com)
The advent of massively parallel sequencing technologies [ 8 ] allowed cheap and efficient evaluation of the somatic mutations in a cancer genome. (biomedcentral.com)
This provided an unprecedented opportunity to examine somatic mutational patterns by sequencing multiple cancer-associated genes, by sequencing all coding regions of the human genome (i.e., usually referred to as whole-exome sequencing), or even by interrogating the complete sequence of a cancer genome (i.e., an approach known as whole-genome sequencing). (biomedcentral.com)
In addition to confirming prior observations, whole-exome and whole-genome sequencing data provided a unique opportunity for identifying all of the mutational processes that have been active in the lineage of a cancer cell [ 12 ]. (biomedcentral.com)
These authors found considerable variation existed among the non-coding single-copy sequences in the chloroplast genome of A. thaliana . (biomedcentral.com)

Indeed, mutation detection enhancement gel electrophoresis of mixed PCR products from cloned haplotypes revealed 24 distinct heteroduplex patterns for the six possible trinucleotide heterozygotes. (scite.ai)
For instance, if you've got a mutation caused by triplet repeat expansion, for instance in the Huntington's gene, where the trinucleotide repeats a CAG, you might have 17 CAGs in a normal chromosome. (hstalks.com)
Some occur in the coding region of the gene, others occur in the five prime region and others occur in the three prime region, and these have different consequences on the function of the gene and the results of the mutation. (hstalks.com)
from the mutation of a single gene. (scirp.org)
YBM12-A and YBM12-B). This mutation in leaf color is controlled by a single dominant nuclear gene. (geneticsmr.com)
Huntington's disease (HD) is an autosomal dominant progressive neurodegenerative disorder caused by a dynamic mutation due to the expansion of CAG repeats in the HTT gene (4p16.3). (geneticsmr.com)
METHOD: Mutation screening of positional candidate genes was performed in two stages. (neurotransmitter.net)
2005) identified a mutation in the APP gene (104760.0019). (findzebra.com)
This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. (findzebra.com)

These diseases are all caused by microsatellite mutations, where a microsatellite either has three bases, four bases, five bases, or six bases, and these mutations result in excess numbers of copy of these particular units. (hstalks.com)
What this slide shows is that these types of mutations can occur in various parts of the gene. (hstalks.com)
We hypothesize that there might be at least three types of autism susceptibility genes/mutations that can be (i) specific to an individual patient or family, (ii) in a genetically isolated sub-population and (iii) a common factor shared amongst different populations. (neurotransmitter.net)
The genes/mutations could act alone or interact with other genetic and/or epigenetic or environmental factors, causing autism or related disorders. (neurotransmitter.net)
21 allelic mutations have been discovered in the APP gene. (findzebra.com)

The nucleotide sequence written in bold characters signifies the repeated sequence. (wikipedia.org)
Nanopore sequencing is an evolving third/fourth generation sequencing technology for direct detection of nucleotide sequences with kb or even Mb base pairs (7)(8) . (researchsquare.com)
Two single nucleotide polymorphisms (SNPs) that showed evidence for divergent distribution between autistic and nonautistic subjects were identified, both within SLC25A12, a gene encoding the mitochondrial aspartate/glutamate carrier (AGC1). (neurotransmitter.net)
The analysis of the nucleotide sequences showed that the 77 accessions of A. thaliana were partitioned into two major differentiated haplotype classes (MDHCs). (biomedcentral.com)

The mechanisms by which genetic variants result in loss of protein function are many and variable, and include large-scale genomic deletions that can involve multiple genes, down to smaller single-exon deletions that may result in the protein reading frame being shifted and a truncated protein, or an in-frame loss of protein sequence. (hstalks.com)
The particularity of the FCGS coding resides in exploiting the statistical properties of the genomic sequence itself. (springeropen.com)
However, the search for relevant information along the genomic sequences is not an easy task. (springeropen.com)
In order to better understand the genomic sequence role and structure, several signal processing approaches have been investigated. (springeropen.com)
The specificity of our coding consists on exploiting the statistical properties of the genomic sequence itself, which may serve in detecting interesting structures within the DNA sequences. (springeropen.com)
two genes preferentially expressed in differentiating xylem of loblolly pine (pinus taeda l.) were cloned from cdna and genomic libraries and designated ptx3h6 and ptx14a9. (liverpool.ac.uk)

The process of DNA mismatch repair plays a prominent role in the formation of direct trinucleotide repeat expansions. (wikipedia.org)

Tandem repeats (tandem repeat sequences) are repeated copies which lie adjacent to each other. (wikipedia.org)
Thus direct repeat tandem sequences are a form of microsattelite DNA. (wikipedia.org)
Short tandem repeats (STRs), or microsatellites, are 1-6 base pair (bp) motifs of repeating units of DNA. (biomedcentral.com)
We searched the expressed sequence tag databank for reiterated trinucleotides and selected EST00493 (D2S196E) with 14 tandem ACA triplets as a potentially polymorphic locus. (scite.ai)
NanoSTR can be used for STR detection and genotyping based on long-read data from nanopore sequencing with improved accuracy and efficiency compared with other existing methods, such as Tandem-Genotypes and TRiCoLOR. (researchsquare.com)
There are a few methods for STR identification based on nanopore sequencing, and the representative software are Tandem-Genotypes (11) , NanoSatellite (12) , STRique (13) ， etc. (researchsquare.com)
of tandem repeats within their genomes [6, 17]. (scirp.org)

Sequencing of their polymerase chain reaction (PCR) products revealed a G-->A transition immediately preceding the trinucleotide repeats, hence defining 8 distinct haplotypes and 36 possible genotypes. (scite.ai)
In another study, the trnL - trnF cpDNA intergenic spacer region of 475 individuals from 167 A. thaliana populations in its native range was sequenced and 16 haplotypes were identified [ 8 ]. (biomedcentral.com)

Size variation was readily detected, with four common alleles containing 12-15 repeats. (scite.ai)
One individual was found to carry a 12 kb deletion in one copy of the ASPA gene on 17p13, which when mutated in both alleles leads to Canavan disease. (biomedcentral.com)
REVIEW-ARTICLE Intermediate alleles of Huntington's disease HTT gene in different populations worldwide: a systematic review. (geneticsmr.com)
The considered normal alleles have less than 27 CAG repeats. (geneticsmr.com)
Intermediate alleles (IAs) show 27 to 35 CAG repeats and expanded alleles have more than 35 repeats. (geneticsmr.com)
multiple alleles at qtl allow the examination of interaction among alleles at qtl (deviation from additive gene action). (liverpool.ac.uk)

Such repeat expansions underlie several neurological and developmental disorders in humans. (wikipedia.org)
Long expansions of transcribed trinucleotide microsatellites have been etiologically associated with some neurological diseases. (scite.ai)

Due to the repetitive structure of STRs and their high mutability, sequencing and genotyping these loci is difficult, especially using short-read sequencing data. (biomedcentral.com)
Although NanoSTR needs further optimization and development, it is useful as an analytical method for the detection of STR loci by nanopore sequencing. (researchsquare.com)
These highly individual-specific number of repeats and the abundance of motifs have contributed to the polymorphism of STR loci. (researchsquare.com)
The final consensus maps are based on 1578 microsatellite loci and these maps have a cumulative length of approximately 1400 cM after adjustment for recombination frequencies of RI strains. (nervenet.org)

Throughout this Human Genetics course, you will have encountered many different genetic disorders that are caused by a wide variety of genetic alterations. (hstalks.com)

A tract of repetitive DNA in which a motif of a few base pairs is tandemly repeated numerous times (e.g. 5 to 50 times) is referred to as microsatellite DNA. (wikipedia.org)

Next-generation sequencing of the whole exome is useful for testing for multiple candidate genes simultaneously or for discovering new, rare disorders. (medlink.com)
Whole exome sequencing is not suitable for detecting polynucleotide repeat disorders or large insertion/deletions. (medlink.com)
A total of 89 tumor tissues with matched normal tissues from Chinese NSCLC patients were collected and subjected to whole exome sequencing (WES). (biomedcentral.com)
Here, we investigated DNAm profiles of a Chinese NSCLC cohort, together with whole exome sequencing (WES) data to explore their direct correlation with TMB. (biomedcentral.com)

Today I'm going to tell you about microsatellites, and trinucleotide repeat expansions diseases. (hstalks.com)

citation needed] The ribosomal RNA and transfer RNA genes belong to the class of middle repetitive DNA. (wikipedia.org)

We used the two sequence characterized amplified region (SCAR) markers (CRF-SCAR and CMS-SCAR) in CMS pepper, to identify the genotype. (geneticsmr.com)

The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)

The observation of heteroduplex patterns in non-denaturing polyacrylamide gel electrophoresis (instead of the more commonly used denaturing gels) can thus be utilized to increase the informativeness of microsatellite polymorphisms by unraveling otherwise cryptic sequence variation. (scite.ai)
The number of repeat units differs between individuals, resulting in highly complex allele polymorphisms. (researchsquare.com)
In practice, however, the high error rate and special data characteristics of long-read sequencing have limited the efficient identification of STR polymorphisms, and therefore, further evaluation of the analytical methods is required (9)(10) . (researchsquare.com)

In terms of data characteristics, NanoSTR effectively avoids the non-random sequencing errors and unexpected insertions-deletions (indels) associated with nanopore sequencing (8)(9) and thus improves the efficiency of sequencing data utilization, the detection rate of STR genotypes, and the accuracy of STR profiling. (researchsquare.com)
Diversity and genetic stability in banana genotypes in a breeding program using inter simple sequence repeats (ISSR) markers. (geneticsmr.com)

in contrast to simple family structures reported for a variety of angiosperm nsltp genes, the putative pine nsltp gene is a member of a complex family. (liverpool.ac.uk)

But in a diseased chromosome, you might have 40 successive copies of CAG trinucleotides in the gene. (hstalks.com)

For example, NanoSatellite directly analyzes STRs based on electric current distribution, and the accuracy of analysis depends heavily on the stability of the sequencing current and the precision of the basecalling model. (researchsquare.com)
We therefore developed NanoSTR as a method for detecting target STRs based on nanopore sequencing. (researchsquare.com)

Fluorescence in situ hybridization (FISH), quantitative polymerase chain reaction (Q-PCR) and/or direct DNA sequencing were used to validate potential microdeletions and microduplications. (biomedcentral.com)

Two subjects showed partial duplication of the TM4SF2 gene on Xp11.4, previously implicated in X-linked non-specific mental retardation, but in our subsequent analyses such variants were also found in controls. (biomedcentral.com)
Looking at loss-of-function variants and their role in human disease, in fact the majority of rare genetic disorders described to date result from loss-of-function pathogenic variants, that may partially or completely inactivate the gene product. (hstalks.com)

the gene encoding the monolignol biosynthetic enzyme cinnamyl alcohol dehydrogenase (cad, e.c. 1.1.1.195) can be expressed in response to different developmental and environmental cues. (liverpool.ac.uk)

Yet, next-generation sequencing does not detect many neurogenetic disorders. (medlink.com)

In contrast, interactions between genes and the environment cannot usually be studied using conventional mapping populations in which each animal is unique. (nervenet.org)
These populations originated from a common ancestor, and a rapid demographic expansion began approximately 90,000 years ago. (biomedcentral.com)
The natural populations from China with specific genetic characteristics enriched the gene pools of global A. thaliana collections. (biomedcentral.com)

A plethora of prior research has focused on examining mutational signatures and mutational patterns from single base substitutions and their immediate sequencing context. (biomedcentral.com)
Analysis of somatic mutational patterns is a powerful tool for understanding the etiology of human cancers [ 1 ]. (biomedcentral.com)
By utilizing mathematical modelling and computational analysis, we previously created the concept of mutational signatures and provided tools for deciphering mutational signatures from massively parallel sequencing data [ 13 ]. (biomedcentral.com)

Genes in these two novel duplications include GABRB3 and ATP10A in one case, and MKRN3 , MAGEL2 and NDN in the other. (biomedcentral.com)

I'm going to give a lecture on the mechanisms of human genetic disease. (hstalks.com)
The aim of this lecture is to provide selected examples of the links between different types of genetic and epigenetic alterations, and the diversity of ways in which they can impact protein function and lead to human genetic disease. (hstalks.com)

Here, we solved the first structures of sortase A from Streptococcus pyogenes bound to two substrate sequences, LPATA and LPATS. (bvsalud.org)

Apolipoprotein E (ApoE) is one of the most extensively studied genes in the context of aging, but there are few population-based studies on ApoE polymorphism in the elderly in developing countries. (scite.ai)

These guarantee onset of early-onset familial Alzheimer disease and all occur in the region of the APP gene that encodes the Aβ domain. (findzebra.com)
The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. (lookformedical.com)

These disorders have in common that the associated genetic alterations result, in most cases, in altered expression or function of the protein product of the relevant gene, which then directly or indirectly leads to pathophysiological changes that result in disease. (hstalks.com)
It is structurally different from TELOMERIC REPEAT BINDING PROTEIN 1 in that it contains basic N-terminal amino acid residues. (lookformedical.com)
lipid transfer protein genes of loblolly pine are members of a complex gene family. (liverpool.ac.uk)

The FCGS approach relies on the frequency value of each sub-pattern assignment, which gives us the opportunity to produce several signals for the same input sequence, depending on the size of the considered sub-patterns. (springeropen.com)

In this study we have increased the density of microsatellite markers 2- to 5-fold in each of several major RI sets that share C57BL/6 as a parental strain (AXB, BXA, BXD, BXH, and CXB). (nervenet.org)

This method adds to the toolbox for nanopore-based STR analysis and expands the applications of nanopore sequencing in scientific research and clinical scenarios. (researchsquare.com)

genetic analysis of cinnamyl alcohol dehydrogenase in loblolly pine: single gene inheritance, molecular characterization and evolution. (liverpool.ac.uk)

However, there are few methods for STR detection based on nanopore sequencing due to the challenges posed by the sequencing principles and the data characteristics of nanopore sequencing. (researchsquare.com)

Direct repeats are a type of genetic sequence that consists of two or more repeats of a specific sequence. (wikipedia.org)
Generally, a direct repeat occurs when a sequence is repeated with the same pattern downstream. (wikipedia.org)
There is no inversion[clarification needed] and no reverse complement associated with a direct repeat. (wikipedia.org)
Direct terminal repeats are in the same direction and inverted terminal repeats are opposite to each other in direction. (wikipedia.org)
These can also be direct or inverted repeats. (wikipedia.org)

CRISPR-CAS9 is a system of gene editing (precisely, the precise/specific gene-editing tool) having lucrative applications in medical research, diagnostics, animal research, plant and agriculture science. (geneticeducation.co.in)

control of cad gene expression could involve either differential regulation of more than one cad gene or, alternatively combinatorial regulation of a single cad gene. (liverpool.ac.uk)

Epigenetics broadly is a heritable genetic characteristic that is a cell-specific gene expression and regulation achieved by the interaction between DNA and transcriptional factors. (geneticeducation.co.in)

The results in PAR1/PAR2 are the first large-scale studies of gene dosage in these regions, and the findings at the ASMT locus indicate that further studies of the duplication of the ASMT gene are needed in order to gain insight into its potential involvement in ASD. (biomedcentral.com)
Our studies also identify some limitations of MLPA, where single base changes in probe binding sequences alter results. (biomedcentral.com)

xylem-specific gene expression in loblolly pine. (liverpool.ac.uk)

Flanking (or terminal) repeats (terminal repeat sequences) are sequences that are repeated on both ends of a sequence, for example, the long terminal repeats (LTRs) on retroviruses. (wikipedia.org)

In an investigation on the maternal origins of A. suecica , 12 cpDNA regions were sequenced for 25 A. thaliana accessions, which were mainly collected from Scandinavia [ 25 ]. (biomedcentral.com)

In the present study, genes across the 2q24-q33 interval were analyzed to identify an autism susceptibility gene in this region. (neurotransmitter.net)
The present technology has actually infinite potential applications and scientists are doing it, expanding its use in diverse fields, for example, manipulating or controlling gene expressions. (geneticeducation.co.in)

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