31 Therefore, we have hypothesised that mutagenic stress could result in an induction of instability of unexpanded TNR sequences, leading to an increase in the frequency of spontaneously occurring contractions/expansions in repeat number. (bmj.com)
Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. (org.ua)
The assay detects single nucleotide variants (SNV), indels, focal copy number alterations (CNA), TERT promoter region, as well as tumor mutation burden (TMB) and microsatellite instability (MSI) status. (oncotarget.com)
Pathogenic2
However, pathogenic loci bear expanded alleles of up to several hundred or even thousand repeats in severe cases. (bmj.com)
As with many other tandemly repeated microsatellite sequences, pathogenic TNRs are highly unstable in both the somatic and germ cell lineage, leading to expansions and contractions in the length of the repeats in successive cell or individual generations. (bmj.com)
Mutations3
10 These factors are not mutually exclusive and include the purity and length of the repeated sequence, 7, 11 age of individuals, 6, 7 mitotic drive, 12 the relative position of the TNR with respect to adjacent origins of DNA replication, 13 and mutations in genes involved in DNA repair, replication, and recombination. (bmj.com)
[1] Richards RI, Sutherland GR. Dynamic mutations: a new class of mutations causing human disease. (org.ua)
[18] W?hrle D, Hennig I, Vogel W, Steinbach P. Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion. (org.ua)
Motifs2
Furthermore, 14,262 microsatellite motifs were identified, with 11,208 transcripts containing at least one simple sequence repeat, including 48% of di/trinucleotide motifs. (biomedcentral.com)
Among 23,691 non-redundant identified ESTs, 1949 SSR motifs harboring 2 to 6 nucleotides with varied repeat motifs were discovered from 1676 assembled sequences. (geneticsmr.com)
Markers5
The expression analysis of the selected candidate genes, along with a set of microsatellite markers, provides a valuable resource for further genetic characterization of A. fraterculus sp. (biomedcentral.com)
To evaluate the origin and time since spreading of the 999del5 mutation in Iceland and in Finland, we constructed haplotypes with polymorphic markers within and flanking the BRCA2 gene in a set of 18 Icelandic and 10 Finnish 999del5 breast cancer families. (nih.gov)
In this study, expressed sequence tag (EST)-based simple sequence repeat (SSR) markers were developed from 40,362 Jerusalem artichoke ESTs retrieved from the NCBI database. (geneticsmr.com)
Our results indicate that these newly characterized EST-SSR markers may be useful in the exploration of genetic diversity and range expansion of the Jerusalem artichoke, and in cross-species application for the genus Helianthus . (geneticsmr.com)
The markers most commonly used are simple sequence repeat (SSR) or microsatellite markers. (geneticsmr.com)
The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. (org.ua)
The surprising finding of the same mutation in two completely different haplotypes in a sparsely populated area in Finland may suggest gene conversion. (nih.gov)
To test this hypothesis, we analysed normal length TNR sequences at a single repeat resolution by radioactive PCR and denaturating polyacrylamide gels, using DNA from multiple single cell clones expanded in the presence or absence of mitomycin-C (MMC), a mutagenic agent able to induce interstrand DNA cross links, strand breaks, and replication blockage. (bmj.com)
In 1991, for fragile X syndrome, the fragile X mental retardation 1 (FMR-1) gene was found to contain a CGG expansion in its 5' untranslated region (UTR). (wikipedia.org)
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. (org.ua)
Alleles2
In addition, much of the evidence for the mechanisms that are thought to produce repeat expansion in pathological TNRs are dismissed as irrelevant for normal alleles. (bmj.com)
1 transcriptome and to obtain an initial evaluation of genes associated with main metabolic pathways by the expression analysis of specific transcripts identified in embryos and adults. (biomedcentral.com)
Additionally, the assay incorporates whole transcriptome sequencing of the tumor sample that allows for the detection of gene fusions and select special transcripts, including AR-V7, EGFR vIII, EGFRvIV, and MET exon 14 skipping events. (oncotarget.com)
TNRs3
After the breakthroughs, the four mechanisms for TNRs were determined, and more types of repeats were identified as well. (wikipedia.org)
Detection of TNRs was made difficult by limited technology and methods early on, and years passed before the development of sufficient ways to measure the repeats. (wikipedia.org)
6- 8 Expansions in the number of TNRs are known to be a molecular basis of genetic anticipation, 9 the progressively earlier age of onset of a disease with increasing severity in successive generations. (bmj.com)
Females2
The qPCR analysis evidenced that the early genes serendipity alpha and transformer-2 displayed similar expression levels in the analyzed stages, while heat shock protein 27 is over-expressed in embryos and females in comparison to males. (biomedcentral.com)
The expression of genes associated with courtship ( takeout -like , odorant-binding protein 50a1 ) differed between males and females, independently of their reproductive status (virgin vs mated individuals). (biomedcentral.com)
Its molecular basis is an expansion of a CTG repeat in the 3′ untranslated region (UTR) of the DMPK gene on chromosome 19. (bmj.com)
Genetic2
The search for genes involved in sex-determination and differentiation, and in metabolic pathways associated with communication and mating behaviour, contributes with key information to the development of genetic control strategies. (biomedcentral.com)
Levels and patterns of genetic diversity and the range expansion of Jerusalem artichoke remain largely unknown. (geneticsmr.com)
Pairs1
Onwards from 1995, it was also possible to observe the formation of hairpins in triplet repeats, which consisted of repeating CG pairs and a mismatch. (wikipedia.org)
Transcripts1
Using this information and genes searches based on published studies from other tephritid species, we evaluated a set of transcripts involved in development, courtship and metabolic pathways. (biomedcentral.com)
Disease7
Generally, the larger the expansion the more likely they are to cause disease or increase the severity of disease. (wikipedia.org)
because of this, it took almost 200 years for a link between onset of disease and trinucleotide repeats (TNR) to be acknowledged. (wikipedia.org)
SMBA is the first "CAG / polygutamine" disease, which is a subcategory of repeat disorders. (wikipedia.org)
In 1993, for Huntington's disease (HD), a longer-than-usual CAG repeat with was found in the exon 1 coding sequence. (wikipedia.org)
During the decade after evidence that linked TNR to onset of disease was found, focus was placed on studying repeat length and dynamics on diseases, as well as investigating the mechanism behind parent-child disease inheritance. (wikipedia.org)
at the time, debate centered around whether disease was brought on by smaller amounts of short expansions or a small amount of long expansions. (wikipedia.org)
Detection1
the detection of various repeats within these diseases demonstrated this relationship. (wikipedia.org)
Mechanisms1
Other proposed mechanisms for expansion and reduction involve the interaction of RNA and DNA molecules. (wikipedia.org)
Appears1
It appears that expansion of these repeats is more common than reduction. (wikipedia.org)
Sequences1
In addition, a CAG expansion was located in X-linked spinal and bulbar muscular atrophy (SBMA) sequences. (wikipedia.org)
Repair1
When a DNA trinucleotide repeat sequence is damaged, it may be repaired by processes such as homologous recombination, non-homologous end joining, mismatch repair or base excision repair. (wikipedia.org)
Results1
Our results significantly expand the available gene space of A. fraterculus sp. (biomedcentral.com)
Increase1
If the loop out structure is formed from the sequence on the daughter strand this will result in an increase in the number of repeats. (wikipedia.org)
Location1
Repeat composition and location are used to determine the mechanism of a given expansion. (wikipedia.org)
Expression1
Genes associated with metabolic pathways ( maltase 2- like , androgen-induced gene 1 ) showed differential expression between embryos and adults. (biomedcentral.com)
Length1
Currently, CAG repeat length is considered the biggest onset age modifier for TNR diseases. (wikipedia.org)