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  • genomic
  • These observations might impact ongoing tries to make use of LMD and MCMC simulations for TRS-related modeling of genomic DNA efficiency in elucidating the common denominators of the dynamic TRS expansion mutation with potential therapeutic applications. (cancer-basics.com)
  • genetic
  • citation needed] Trinucleotide repeat disorders generally show genetic anticipation, where their severity increases with each successive generation that inherits them. (wikipedia.org)
  • Although the transfer of a number of genes from these organelles to the nucleus prevents them from living independently, each still possesses genetic material in the form of double stranded DNA. (wikipedia.org)
  • They have a higher mutation rate than other areas of DNA leading to high genetic diversity. (wikipedia.org)
  • They are also used in genetic linkage analysis to locate a gene or a mutation responsible for a given trait or disease. (wikipedia.org)
  • The increasing availability of DNA amplification by PCR at the beginning of the 1990s triggered a large number of studies using the amplification of microsatellites as genetic markers for forensic medicine, for paternity testing, and for positional cloning to find the gene underlying a trait or disease. (wikipedia.org)
  • phenotype
  • Thus, the phenotype of traits linked to genes found in either chloroplasts or mitochondria are determined exclusively by the maternal parent. (wikipedia.org)
  • Thus the AR activates these genes to mediate the effects of androgens in the human body, including the development and maintenance of the male sexual phenotype and generalized anabolic effects. (wikipedia.org)
  • specific genes
  • Category I includes Huntington's disease (HD) and the spinocerebellar ataxias that are caused by a CAG repeat expansion in protein-coding portions of specific genes. (wikipedia.org)
  • This and additional evidence supports the hypothesis that loss of MBNL1 function in DM causes defects in the alternative splicing of specific genes during postnatal development which leads to distinct pathological features in adult-onset disease, including myotonia and insulin insensitivity. (ufl.edu)
  • tumors
  • Cancers vary over many orders of magnitude in their total background mutation burden, ranging from very quiet tumor types such as leukemias and childhood tumors, which may have fewer than 10 somatic mutations in their exome, to carcinogen-associated tumor types such as lung cancer and melanoma, which may have over 1000. (massgeneral.org)
  • Tumors carrying mutations in the proofreading exonuclease domain of polymerase epsilon (POLE) tend to accrue C-to-A mutations at the trinucleotide TCT. (massgeneral.org)
  • chromosomes
  • Although these diseases share the same repeated codon (CAG) and some symptoms, the repeats for the different polyglutamine diseases occur on different chromosomes. (wikipedia.org)
  • These laws describe the inheritance of traits linked to single genes on chromosomes in the nucleus. (wikipedia.org)
  • The telomeres at the ends of the chromosomes, thought to be involved in ageing/senescence, consist of repetitive DNA, with the hexanucleotide repeat motif TTAGGG in vertebrates. (wikipedia.org)
  • STRs
  • We also demonstrate that STRs are significantly overrepresented in disease-related genes in both human and mouse. (biomedcentral.com)
  • These results are preserved when we limit the analysis to STRs outside known longer tandem repeats. (biomedcentral.com)
  • Long intergenic tandem repeats are well known targets for structural variation, and in this study we investigate whether exonic STRs share this property, and hence may serve as a probable target for exonic disease causing mutations. (biomedcentral.com)
  • We found a strong excess of validated indels in STR regions and demonstrated that exonic STRs are likely targets for disease causing mutations by showing that disease-related genes have a significantly higher STR content than non-disease-related genes. (biomedcentral.com)
  • SCA1
  • Three genes, SCA1 on 6p, SCA2 on 12q and MJD1 on 14q, have been isolated for SCA1, SCA2 and Machado-Joseph disease (MJD), respectively. (springer.com)
  • A total of 14 South African kindreds and 22 sporadic individuals with SCA were investigated for the expanded SCA1 and MJD repeats. (springer.com)
  • The use of the microsatellite markers D6S260, D6S89 and D6S274 provided evidence that the expanded SCA1 repeats segregated with three distinct haplotypes in the six families. (springer.com)
  • polyglutamine
  • Although the causative genes are widely expressed in all of the known polyglutamine diseases, each disease displays an extremely selective pattern of neurodegeneration. (wikipedia.org)
  • locus
  • Overexpression of Mre11p or Rad50p suppresses the inhibition of DSB repair by CAG 98 and significantly increases the average size of expansions found at the recipient locus. (embopress.org)
  • amino
  • We have found that the gain of novel LCRs is frequently associated with repeat expansion whereas the loss of LCRs is more often due to accumulation of amino acid substitutions as opposed to deletions. (biomedsearch.com)
  • A study by Negoro et al (2006) found that a frameshift mutation was unlikely to have been the cause and that rather a two amino acid substitution in the active site of an ancestral esterase resulted in nylonase. (wikipedia.org)
  • transcription
  • We record that repeats possess the to hinder the binding of transcription elements with their consensus series by changed DNA inhaling and exhaling dynamics in closeness from the binding sites. (cancer-basics.com)
  • This combination functions as a transcription complex to turn on androgen gene expression. (wikipedia.org)
  • foci
  • If the repeat is present in an intron it can cause toxic effects by forming spherical clusters called RNA foci in cell nuclei. (wikipedia.org)
  • somatic
  • Distinguishing true somatic mutations from sequencing or alignment artifacts can be tricky, especially for subclonal events present in only a fraction of tumor cells. (massgeneral.org)
  • Isolating true somatic mutations is crucial for downstream analyses of mutational signatures and driver events. (massgeneral.org)
  • Vertical position indicates the total number of somatic coding mutations in each patient. (massgeneral.org)
  • Patients are sorted by the similarity of their somatic mutation spectra (i.e. clustering dendrogram order). (massgeneral.org)
  • protein
  • Most (though probably not all) genes have been identified by a combination of high throughput experimental and bioinformatics approaches, yet much work still needs to be done to further elucidate the biological functions of their protein and RNA products. (wikipedia.org)
  • There are an estimated 19,000-20,000 human protein-coding genes. (wikipedia.org)
  • secondary
  • These data indicate that repair‐ associated DNA synthesis is inhibited by secondary structures formed by CAG 98 and that these structures promote repeat expansions during DSB repair. (embopress.org)
  • motif
  • AT in ATATATATAT) is repeated at least three times, (3) there are only few base pairs that do not match the periodic motif (see Methods). (biomedcentral.com)
  • Robotics were used for high-throughput colony picking and to create a high-density filter of 18,432 double spotted cDNA clones which was followed by hybridization with repeat motif containing probes based on GA, CA, AAT, CAG, CAA and ACG repeats. (biomedcentral.com)
  • A total of 1203 positive clones were identified by their addresses and sequenced from 5' ends and if required from 3' ends to confirm repeat motif and length. (biomedcentral.com)
  • The alternative approach of hybridizing SSR motif probes to cDNA libraries is another source of genic microsatellites, but in comparison is not widely used although it has the benefit of being a more directed method of discovering microsatellites within genes. (biomedcentral.com)
  • PolyQ
  • Furthermore, when the CAG repeat was changed to a repeating series of CAACAG (which also translates to polyQ), toxicity was dramatically reduced. (wikipedia.org)
  • androgen receptor
  • The androgen receptor (AR), which is defective due to a mutation in most of these syndromes, is a type of nuclear receptor that is activated by binding to either of the androgenic hormones (testosterone or dihydrotestosterone) in the cytoplasm, and then translocates into the nucleus where it binds to DNA, provided androgen response elements and coactivators are present. (wikipedia.org)
  • phenotypically
  • Cases of phenotypically normal males with isolated spermatogenic defect due to AR mutation were first detected as the result of male infertility evaluations. (wikipedia.org)
  • Thus
  • The Mre11 complex thus appears to be directly involved in removing CAG or CTG hairpins that arise frequently during DNA synthesis accompanying gene conversion of these trinucleotide repeats. (embopress.org)
  • Mbnl
  • Our working hypothesis is that MBNL genes show distinct temporal and spatial expression patterns that influence age-of-onset and disease-associated pathological changes. (ufl.edu)
  • We conclude that Mbnl3 null lines must be created to determine if expression of this Mbnl gene is essential for normal embryonic muscle development. (ufl.edu)
  • The results are consistent with a mechanism for DM pathogenesis in which expanded repeats cause a loss of MBNL and/or gain of CELF activities, leading to misregulation of alternative splicing of specific pre‐mRNA targets. (embopress.org)
  • markers
  • The present study provides a set of validated gene-based markers for common bean that are derived from G19833, an Andean landrace that is an important source of disease and abiotic stress tolerance which has been used for physical map development and as a mapping parent. (biomedcentral.com)
  • Gene-based markers appear to be very efficient at separating divergent wild and cultivated accessions as well as Andean and Mesoamerican genepools and therefore will be useful for diversity analyses and for comparative and transcript mapping in common bean. (biomedcentral.com)
  • Although high throughput sequencing techniques for functional diversity analysis are being developed nowadays, the use of already well established variable markers present in candidate genes is still an interesting alternative for mapping purposes and functional diversity studies. (ejbiotechnology.info)
  • SSR markers derived from candidate genes (SSR-CG) can be used effectively in co-segregation studies and marker-assisted diversity management. (ejbiotechnology.info)
  • This is the first report on the identification, characterization and diversity analysis of microsatellite markers located inside wood quality candidate genes (CG) from Eucalyptus globulus . (ejbiotechnology.info)
  • toxicity
  • citation needed] Recent results suggest that the CAG repeats need not always be translated in order to cause toxicity. (wikipedia.org)
  • short repeats
  • Investigations of the relation between the AR polymorphism and breast cancer ( Table 1 ) have been conflicting, variably reporting that short repeats are associated with a decreased risk ( 14 - 18 ) or are not associated with risk ( 19 - 21 ) or are associated with decreased breast cancer survival ( 16 , 22 , 23 ). (aacrjournals.org)
  • motifs
  • Efficient identification of conserved and exclusive SSRs through cross-species comparison is helpful for understanding the evolutionary mechanisms and associations between specific gene groups and SSR motifs. (hindawi.com)
  • SSRs have been demonstrated as important motifs involved within various biological events including evolutionary processes, gene expression, genetic disease, chromatin organization, and DNA metabolic processes [ 2 - 4 ]. (hindawi.com)
  • In addition to illustrate the effects of mutations and expansions of SSR repeats on diseases, another example to demonstrate the function of SSR motifs is the insulin-like growth factor 1 ( IGF1 ) which was confirmed as one of the growth control genes. (hindawi.com)
  • Therefore, identifying highly conserved SSRs through cross-species comparison may provide an alternative approach to recognize significant biomarkers or discover putative gene regulatory SSR motifs from enormous gene candidates under the assumption of natural long-term evolutionary processes. (hindawi.com)
  • While EST sequencing can be used to discover genic microsatellites, direct screening of cDNA libraries for repeat motifs can save on overall sequencing costs. (biomedcentral.com)
  • The objective of this research was to screen a large cDNA library from and Andean common bean genotype for six di-nucleotide and tri-nucleotide repeat motifs through a filter hybridization approach and to develop microsatellite markers from positive clones. (biomedcentral.com)
  • Table ?Desk22 demonstrates, when perfect do it again motifs were considered, a complete of 423 microsatellite markers were identified (which range from 15 - 128 bps) as well as the mean microsatellite denseness is 1 per 27.7 kb. (ivachtin.com)
  • Present study deals with identification of the microsatellite motifs within the reported and predicted miRNA precursors that are effectively followed by designing of primers from SSR flanking regions in order to PCR validation. (beds.ac.uk)
  • Trinucleotide motifs are most abundant among all followed by dinucleotides. (beds.ac.uk)
  • Considering the above, present study aims to identify the microsatellite motifs within the reported and predicted miRNA precursors that are effectively followed by designing of primers for PCR validation. (beds.ac.uk)
  • A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from 1-6 or more base pairs) are repeated, typically 5-50 times. (wikipedia.org)
  • 1992). A microsatellite is a tract of tandemly repeated (i.e. adjacent) DNA motifs that range in length from one to six or up to ten nucleotides (the exact definition and delineation to the longer minisatellites varies from author to author), and are typically repeated 5-50 times. (wikipedia.org)
  • Repeat units of four and five nucleotides are referred to as tetra- and pentanucleotide motifs, respectively. (wikipedia.org)
  • Similarly, insects have shorter repeat motifs in their telomeres that could arguably be considered microsatellites. (wikipedia.org)
  • SSRs
  • Ultraconserved or exclusive SSRs among cross-species orthologous genes could be effectively retrieved and displayed through a friendly interface design. (hindawi.com)
  • proteins
  • The search for these modifiers, much as the search for the HD gene did in the past, offers to open new entrées into the process of Huntington's disease pathogenesis by unlocking the biochemical changes that occur many years before diagnosis, and thereby providing validated target proteins and pathways for development of rational therapeutic interventions. (beds.ac.uk)
  • In the latter case, alleles of genic microsatellites can be associated with structural mutations that lead to novel proteins that are larger or smaller than those of the original alleles and which can have substituted or repeated amino acids. (biomedcentral.com)
  • A supplementary 1,719 strikes were obtained, recommending that the mixed transcriptome of L. striatellus offers at least 14,080 proteins coding genes (12,361 from A. pisium plus 1,719 from D. melanogaster ). (ivachtin.com)
  • DM arises from the expansion of two similar non-coding microsatellites in the DMPK and CNBP genes which have been proposed to cause disease through a common mechanism, a toxic RNA gain-of-function which can either inhibit or activate specific proteins. (ufl.edu)
  • One of these candidates, the muscleblind-like (MBNL) family of proteins encoded by three genes, MBNL1, MBNL2, and MBNL3, are sequestered into discrete nuclear foci by RNA repeat expansions, preventing interactions with endogenous RNA targets and compromising their activity. (ufl.edu)
  • In contrast, in mutant strains carrying mutations in proteins involved in DNA replication or repair, expansions are frequently seen. (embopress.org)
  • citation needed] Currently, nine neurologic disorders are known to be caused by an increased number of CAG repeats, typically in coding regions of otherwise unrelated proteins. (wikipedia.org)
  • no method is currently available to correct the malfunctioning androgen receptor proteins produced by AR gene mutations. (wikipedia.org)
  • Markers
  • Markers of an X reactivation event were examined: X gene dosage, expression, and methylation in 8 ovarian cancer cell lines. (ubc.ca)
  • In addition, two markers of X reactivation were assayed in two low passage cultures of normal ovarian surface epithelium from BRCA1 mutation positive breast cancer patients. (ubc.ca)
  • The present study provides a set of validated gene-based markers for common bean that are derived from G19833, an Andean landrace that is an important source of disease and abiotic stress tolerance which has been used for physical map development and as a mapping parent. (biomedcentral.com)
  • Gene-based markers appear to be very efficient at separating divergent wild and cultivated accessions as well as Andean and Mesoamerican genepools and therefore will be useful for diversity analyses and for comparative and transcript mapping in common bean. (biomedcentral.com)
  • Thus, STR markers with longer repeat units are more robust in distinguishing Y chromosome haplogroups and, in some cases, phylogenetic splits within established haplogroups. (blogspot.com)
  • Although several SSR markers have been reported, in tea, the trait-specific Simple Sequence Repeat (SSR) markers, leading to be useful in marker assisted breeding technique, are yet to be identified. (beds.ac.uk)
  • Among different markers used in crop improvement and molecular breeding technique, microsatellite markers are profoundly used for its reliability and time saving method. (beds.ac.uk)
  • The increasing availability of DNA amplification by PCR at the beginning of the 1990s triggered a large number of studies using the amplification of microsatellites as genetic markers for forensic medicine, for paternity testing, and for positional cloning to find the gene underlying a trait or disease. (wikipedia.org)
  • Locus
  • the mutation rate for an average Y chromosome tri- or tetranucleotide STR locus has been estimated as 6.9×10−4 per 25 years . (blogspot.com)
  • Overexpression of Mre11p or Rad50p suppresses the inhibition of DSB repair by CAG 98 and significantly increases the average size of expansions found at the recipient locus. (embopress.org)
  • The human androgen receptor (AR) is a protein encoded by a gene located on the proximal long arm of the X chromosome (locus Xq11-Xq12). (wikipedia.org)
  • STRs
  • Here we focus on short (imperfect) tandem repeats (STRs) which fall below the radar of conventional tandem repeat detection, and investigate whether STRs are targets for disease-related mutations in human exons. (biomedcentral.com)
  • We also demonstrate that STRs are significantly overrepresented in disease-related genes in both human and mouse. (biomedcentral.com)
  • These results are preserved when we limit the analysis to STRs outside known longer tandem repeats. (biomedcentral.com)
  • In addition, STRs constitute an obvious target when screening for rare mutations, because of the relatively low amount of STRs in exons (1,973,844 bp) and the limited length of STR regions. (biomedcentral.com)
  • Long intergenic tandem repeats are well known targets for structural variation, and in this study we investigate whether exonic STRs share this property, and hence may serve as a probable target for exonic disease causing mutations. (biomedcentral.com)
  • We found a strong excess of validated indels in STR regions and demonstrated that exonic STRs are likely targets for disease causing mutations by showing that disease-related genes have a significantly higher STR content than non-disease-related genes. (biomedcentral.com)
  • It appeared that 92.23% of all known human genes have STRs in their exons and 99% of STR regions are shorter than 33 bp. (biomedcentral.com)
  • Compared to di-, tri-, and tetranucleotide repeats, STRs with longer repeat units occur more rarely and are far less commonly used. (blogspot.com)
  • Our findings suggest that Y chromosome STRs of increased repeat unit size have a lower rate of evolution, which has significant relevance in population genetic and evolutionary studies. (blogspot.com)
  • Thus
  • Thus, inheritance of the HD mutation initiates a lifelong pathogenic process (Figure 2 ) whose early stages are only beginning to be explored and whose later stages entail clinical diagnosis, progression of neurodegeneration and of disease symptoms, and decline to death, as there is currently no effective treatment for preventing or delaying these. (beds.ac.uk)
  • The Mre11 complex thus appears to be directly involved in removing CAG or CTG hairpins that arise frequently during DNA synthesis accompanying gene conversion of these trinucleotide repeats. (embopress.org)
  • Micro RNAs are short, non-coding RNA molecules, involved in post transcriptional mode of gene regulation and thus effects on related phenotype. (beds.ac.uk)
  • Thus, the phenotype of traits linked to genes found in either chloroplasts or mitochondria are determined exclusively by the maternal parent. (wikipedia.org)
  • Thus the AR activates these genes to mediate the effects of androgens in the human body, including the development and maintenance of the male sexual phenotype and generalized anabolic effects. (wikipedia.org)
  • genetics
  • Queen's University, 2003 A THESIS SUBMITTED IN PARTIAL FULFILLMENT OF THE REQUIREMENTS FOR THE DEGREE OF MASTER OF SCIENCE in THE FACULTY OF GRADUATE STUDIES (Medical Genetics) THE UNIVERSITY OF BRITISH COLUMBIA November 2007  Sara Helen Alison Harbord, 2007 ii Abstract Skewed somatic X inactivation (XCI), X-linked gene overexpression and abnormal X content have been associated with breast and ovarian cancer. (ubc.ca)
  • Microsatellites are also used in population genetics to measure levels of relatedness between subspecies, groups and individuals. (wikipedia.org)
  • specific genes
  • This and additional evidence supports the hypothesis that loss of MBNL1 function in DM causes defects in the alternative splicing of specific genes during postnatal development which leads to distinct pathological features in adult-onset disease, including myotonia and insulin insensitivity. (ufl.edu)
  • Category I includes Huntington's disease (HD) and the spinocerebellar ataxias that are caused by a CAG repeat expansion in protein-coding portions of specific genes. (wikipedia.org)
  • androgen
  • We investigated the association between polymorphism in the androgen receptor ( AR ) and vitamin D receptor ( VDR ) genes and breast cancer risk in a large population-based case-control study of genetically homogenous Swedish women. (aacrjournals.org)
  • The androgen receptor (AR), which is defective due to a mutation in most of these syndromes, is a type of nuclear receptor that is activated by binding to either of the androgenic hormones (testosterone or dihydrotestosterone) in the cytoplasm, and then translocates into the nucleus where it binds to DNA, provided androgen response elements and coactivators are present. (wikipedia.org)
  • This combination functions as a transcription complex to turn on androgen gene expression. (wikipedia.org)
  • Recombination
  • Gene conversion arises during DNA repair via DNA recombination, by which a piece of DNA sequence information is transferred from one DNA helix (which remains unchanged) to another DNA helix, whose sequence is altered. (wikipedia.org)
  • nucleotides
  • A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. (wikipedia.org)
  • codon
  • The frameshift mutation will also alter the first stop codon ("UAA", "UGA" or "UAG") encountered in the sequence. (wikipedia.org)
  • polymorphism
  • C12Q1/683 - Hybridisation assays for mutation or polymorphism detection involving restriction enzymes, e.g. (google.com)
  • A frameshift mutation is not the same as a single-nucleotide polymorphism in which a nucleotide is replaced, rather than inserted or deleted. (wikipedia.org)
  • assays
  • We performed mutation accumulation assays and next generation sequencing on 19 strains, including 16 msh2 missense variants implicated in Lynch cancer syndrome. (g3journal.org)
  • genomes
  • DNA mismatch repair is a highly conserved process that maintains the fidelity of genomes by decreasing the mutation rate 100- to 1000-fold ( Kunkel and Erie 2005 ). (g3journal.org)
  • Motif
  • Robotics were used for high-throughput colony picking and to create a high-density filter of 18,432 double spotted cDNA clones which was followed by hybridization with repeat motif containing probes based on GA, CA, AAT, CAG, CAA and ACG repeats. (biomedcentral.com)
  • A total of 1203 positive clones were identified by their addresses and sequenced from 5' ends and if required from 3' ends to confirm repeat motif and length. (biomedcentral.com)
  • The alternative approach of hybridizing SSR motif probes to cDNA libraries is another source of genic microsatellites, but in comparison is not widely used although it has the benefit of being a more directed method of discovering microsatellites within genes. (biomedcentral.com)
  • AT in ATATATATAT) is repeated at least three times, (3) there are only few base pairs that do not match the periodic motif (see Methods). (biomedcentral.com)
  • amino
  • Approximately 20% of these mutations are missense variants, resulting in a single amino acid substitution in the mismatch repair protein ( de la Chapelle 2004 ). (g3journal.org)
  • A study by Negoro et al (2006) found that a frameshift mutation was unlikely to have been the cause and that rather a two amino acid substitution in the active site of an ancestral esterase resulted in nylonase. (wikipedia.org)
  • carriers
  • Another marker of an X reactivation event, skewed XCI, was assayed in peripheral blood DNA from 106 breast and/or ovarian cancer patients (52 BRCA1 mutation carriers, 24 BRCA2 mutation carriers, 30 non-mutation carriers), 147 age-matched population controls. (ubc.ca)
  • In summary, there is evidence for loss of X silencing or gain of active X content in ovarian cancer cell lines and normal ovarian surface epithelium from BRCA1 mutation carriers. (ubc.ca)
  • At this point, there are from 230 to 4000 CGG repeats in the gene that causes fragile X syndrome in these patients, as compared with 60 to 230 repeats in carriers and 5 to 54 repeats in unaffected individuals. (wikipedia.org)
  • foci
  • If the repeat is present in an intron it can cause toxic effects by forming spherical clusters called RNA foci in cell nuclei. (wikipedia.org)
  • humans
  • Nevertheless, even focusing as intended upon microsatellites and their relevance to humans, it should become clear that most of these questions remain ones that will require consideration, even if only in passing. (bmj.com)
  • citation needed] At present there are 14 documented trinucleotide repeat disorders that affect humans. (wikipedia.org)
  • neurodegeneration
  • TDP-43 is conserved in Drosophila, where it has been the topic of considerable study, but how TDP-43 mutations lead to age-dependent neurodegeneration is unclear and most approaches have not directly examined changes in MN morphology with age. (sdbonline.org)
  • Three genes were identified that suppress TDP-43 toxicity, including shaggy /GSK3 , a known modifier of neurodegeneration. (sdbonline.org)
  • mechanism
  • Since that time, extensive investigations into the pathogenic mechanism have utilized the knowledge of the disease gene and its defect but, with notable exceptions, have rarely relied for guidance on the genetic findings in human patients to interpret the relevance of findings in non-human model systems. (beds.ac.uk)
  • lengths
  • We did not find any associations between AR or VDR microsatellite lengths and breast cancer when we used a priori determined cutoffs (≤21 or ≥22 repeats for AR and ≤18 or ≥19 for VDR ) to define long and short alleles. (aacrjournals.org)
  • overexpression
  • Partial or complete reactivation of the inactive X in females may be a step in breast and ovarian cancer progression, leading to overexpression of some tumour enhancing gene. (ubc.ca)
  • protein
  • The search for the genetic defect itself pioneered many mapping and gene-finding technologies, and culminated in the identification of the HD gene, its mutation and its novel protein product in 1993. (beds.ac.uk)
  • Expression of the mutant protein TDP-43(Q331K) caused dying-back of NMJs and axons, which could not be suppressed by mutations that block Wallerian degeneration. (sdbonline.org)
  • repetitive
  • The residual fifth is moderately to highly repetitive, and can be divided into two types, depending on whether the individual repeat units are dispersed singularly (interspersed repetitive DNA) or clustered together (satellite DNA). (bmj.com)
  • There are several families of interspersed repetitive DNA, although the two largest are known as short and long interspersed nuclear elements (SINEs and LINEs, respectively), 1 and it is to the SINE family that the frequently mentioned Alu repeat belongs. (bmj.com)
  • alleles
  • 20 AR CAG n repeats had an increased risk for breast cancer, odds ratio of 1.67 (95% confidence interval, 1.17-2.38), compared with those with two alleles with ≥20 repeats. (aacrjournals.org)
  • genetic linkage
  • however, they are extremely useful in such fields as forensic DNA profiling and genetic linkage analysis, which can be used to search for genes involved in a wide range of disorders. (bmj.com)