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  • alleles
  • 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)
  • 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)
  • (6) reported an association between prostate cancer and AR alleles with fewer CAG repeats (relative risk, 1.52) using prostate cancer cases and age-matched controls selected from participants in the Physician's Health Study. (aacrjournals.org)
  • These associations between short AR CAG alleles and prostate cancer may be a consequence of enhanced transactivation function (7 , 8) or increased mRNA levels (9) observed in in vitro experiments using AR genes with fewer CAG repeats. (aacrjournals.org)
  • We set out to determine whether prostate cancer was linked to the AR gene and whether we could measure an effect of short AR CAG alleles on the occurrence, age of diagnosis, and/or histological grade of prostate cancer in our families. (aacrjournals.org)
  • 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)
  • locus
  • To examine the potential role of the AR locus in prostate cancer susceptibility, the AR CAG repeat length was measured in 270 Caucasian men with prostate cancer from 133 unrelated families. (aacrjournals.org)
  • Once specific hereditary prostate cancer genes have been identified, future studies can more carefully delineate the potential role of this AR polymorphism as a modifier locus in high-risk families. (aacrjournals.org)
  • 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)
  • 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)
  • genome
  • Recent results suggest that most of the vast quantities of noncoding DNA within the genome have associated biochemical activities, including regulation of gene expression , organization of chromosome architecture , and signals controlling epigenetic inheritance . (wikipedia.org)
  • The estimate of the number of human genes has been repeatedly revised down from initial predictions of 100,000 or more as genome sequence quality and gene finding methods have improved, and could continue to drop further. (wikipedia.org)
  • Basic information about these molecules and their gene content, based on a reference genome that does not represent the sequence of any specific individual, are provided in the following table. (wikipedia.org)
  • A genome-wide association study in catfish reveals the presence of functional hubs of related genes within QTLs for columnaris disease resistance. (auburn.edu)
  • Microsatellites occur at thousands of locations within an organism's genome. (wikipedia.org)
  • Microsatellites are distributed throughout the genome. (wikipedia.org)
  • 6 showed a significant ( P = 2.3 × 10 −26 ) association of TCF4 single nucleotide polymorphism (SNP) rs613872 with FECD by performing a genome-wide association study among subjects of Caucasian descent. (arvojournals.org)
  • Genome-wide analysis using gene family specific Hidden Markov Model of conserved domains identified 520 genes distributed among 20 gene families related to biosynthesis/modification of various cell wall polymers such as cellulose, hemicellulose, pectin, and lignin. (frontiersin.org)
  • codons
  • Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original. (wikipedia.org)
  • tract
  • Sequence analysis of the HOXA13 gene showed a heterozygous 18 bp duplication in the second polyalanine tract, resulting in six additional alanines. (bmj.com)
  • The second microsatellite contains 4 to 31 repetitions of the glycine codon "GGC" and is known as the polyglycine tract. (wikipedia.org)
  • phenotype
  • 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 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)
  • motif
  • 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)
  • 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)
  • mutation
  • They are also used in genetic linkage analysis to locate a gene or a mutation responsible for a given trait or disease. (wikipedia.org)
  • Occasional families may exist in which a single gene plays the major role in determining susceptibility, but the majority of bipolar disorder involves the interaction of multiple genes (epistasis) or more complex genetic mechanisms (such as dynamic mutation or imprinting). (bmj.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)
  • amino acid
  • 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)
  • Identification
  • Channel catfish hemoglobin genes: Identification, phylogenetic and syntenic analysis, and specific induction in response to heat stress. (auburn.edu)
  • 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)
  • trait
  • 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)
  • 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)
  • lengths
  • In this latter study, short AR CAG repeat lengths predisposed to higher histological grade and more advanced stage prostate cancer. (aacrjournals.org)
  • sequences
  • Gene-based microsatellites have been found at a predictable frequency in gene coding regions of many organisms and are often mined from expressed sequence tag (EST) sequences [ 3 , 4 ] although they can also be isolated by various direct laboratory methods from cDNA libraries. (biomedcentral.com)
  • 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)
  • expression
  • Expression of nitric oxide synthase (NOS) genes in channel catfish is highly regulated and time dependent after bacterial challenges. (auburn.edu)
  • To gain further insight into potential functional roles, expression analysis of these gene families was performed using publically available data sets in various tissues and under abiotic stress conditions. (frontiersin.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)
  • Complement regulatory protein genes in channel catfish and their involvement in disease defense response. (auburn.edu)
  • length
  • We now report the analysis of AR CAG repeat length in 270 Caucasian prostate cancer patients who are participating in this study. (aacrjournals.org)
  • duplication
  • Further, 56 tandem duplication events involving 169 genes were identified in these gene families which could be associated with expansion of genes within families in sorghum. (frontiersin.org)
  • 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)
  • A partial duplication in the ASMT gene, located in the pseudoautosomal region 1 (PAR1) of the sex chromosomes and previously suggested to be involved in ASD susceptibility, was observed in 6-7% of the cases but in only 2% of controls (P = 0.003). (biomedcentral.com)
  • functional
  • There are several strongly linked polymorphisms in the 3′ untranslated region of VDR that are of unclear functional significance ( 26 - 28 ) but that nevertheless have been associated with risk of prostate cancer ( 29 - 31 ) and osteoporosis ( 28 , 32 - 34 ). (aacrjournals.org)
  • short
  • 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)
  • novel
  • Genes in these two novel duplications include GABRB3 and ATP10A in one case, and MKRN3 , MAGEL2 and NDN in the other. (biomedcentral.com)
  • study
  • We have chosen to study the AR CAG microsatellite and a polyadenylic acid [poly(A)] microsatellite in the 3′ untranslated region of VDR in relation to breast cancer in a large case-control study in a genetically homogenous population. (aacrjournals.org)
  • Overall, our study provides a comprehensive information on cell wall related genes families in sorghum which offers a valuable resource to develop strategies for altering biomass composition by plant breeding and genetic engineering approaches. (frontiersin.org)
  • (5) suggested a 3% decrease in prostate cancer risk for each additional AR CAG repeat in a population-based case-control study of middle-aged Caucasian men. (aacrjournals.org)
  • include
  • Prominent early applications include the identifications by microsatellite genotyping of the 8-year-old skeletal remains of a British murder victim (Hagelberg et al. (wikipedia.org)
  • crop
  • Despite the sorghum crop importance in biofuel and fodder industry, there is no comprehensive information available on the cell wall related genes and gene families (biosynthetic and modification). (frontiersin.org)
  • cDNAs
  • The average coverage of the annotated isotigs was x40 containing 5655 unique gene IDs and 785 full-length cDNAs coding for proteins containing 58-1536 amino acids. (biomedcentral.com)
  • genome-wide
  • A genome-wide association study in catfish reveals the presence of functional hubs of related genes within QTLs for columnaris disease resistance. (auburn.edu)
  • My thesis aims to gain insights into the genes regulating NPC proliferation using a phenotypic-driven, genome-wide approach. (ubc.ca)
  • consist
  • 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)
  • 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)
  • Markers
  • HD , the Huntington's disease gene, was the first autosomal defect mapped using only DNA markers, a finding in 1983 that helped to spur similar studies in many other disorders and contributed to the concept of the human genome project. (beds.ac.uk)
  • Markers of an X reactivation event were examined: X gene dosage, expression, and methylation in 8 ovarian cancer cell lines. (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)
  • 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)
  • By using these markers, we found that the intergroup gene diversity of J. curcas was greater than the intragroup diversity, and that the domestication of the species probably occurred partly in America and partly in Hainan, China. (beds.ac.uk)
  • 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)
  • QTLs
  • These QTLs are hypothesized to harbor genes important for NPC proliferation and downstream experimentation is required to validate the function of these genes. (ubc.ca)
  • Expression
  • Expression of tumor suppressor genes in channel catfish after bacterial infections. (auburn.edu)
  • Expression of nitric oxide synthase (NOS) genes in channel catfish is highly regulated and time dependent after bacterial challenges. (auburn.edu)
  • As proof of concept, a candidate gene called Galanin receptor 2 (Galr2) in the Chr 11 QTL was demonstrated to be a pro-proliferative regulator of NPCs using in vitro techniques manipulating Galr2 expression and Galr2 knockout mice. (ubc.ca)
  • Paracoccidioides gene expression during morphogenesis, and the events in hormone-mediated block, are under study with DNA microarray technology. (stanford.edu)
  • Expression levels of 8 X-linked genes were assessed by real-time PCR. (ubc.ca)
  • Expression was inconsistent between different genes and among cell lines, ranging from a 2 to 300-fold increase compared to a control. (ubc.ca)
  • Overall, expression was greatly increased for genes subject to inactivation but not increased in genes that escape inactivation for most ovarian cancer cell lines. (ubc.ca)
  • Nevertheless, several interesting hypotheses exist suggesting that certain microsatellites may exert subtle influences on the regulation of gene expression. (bmj.com)
  • Physiological status affected the number of reads that mapped to isotigs, reflecting changes in gene expression between treatments. (biomedcentral.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)
  • diseases
  • Although the presence of these subtle mechanisms may be beneficial to a whole population, when they go wrong, as is thought to happen in the case of human trinucleotide repeat associated diseases, such as Huntington's disease, the consequences for the individual can be fatal. (bmj.com)
  • thus
  • 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 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)
  • 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)
  • skeletal
  • Prominent early applications include the identifications by microsatellite genotyping of the 8-year-old skeletal remains of a British murder victim (Hagelberg et al. (wikipedia.org)
  • analysis
  • 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)
  • adjacent
  • Interestingly, 5% of the single base pair substitutions might represent double-slippage events that occurred at the junction of immediately adjacent repeats, resulting in a shift in the repeat boundary. (g3journal.org)
  • transcriptional
  • In fact "functional DNA", consisting of transcribed genes and regions involved either in transcriptional regulation or in maintaining chromosomal structure/integrity, is thought to comprise less than a sixth of the total human genome. (bmj.com)
  • 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)
  • structural
  • Exonic structural variation may have a direct influence on gene products, and hence of interest for e.g. resequencing studies. (biomedcentral.com)
  • somatic
  • Skewed somatic X inactivation (XCI), X-linked gene overexpression and abnormal X content have been associated with breast and ovarian cancer. (ubc.ca)
  • 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)
  • A bias toward deletions at homopolymers and insertions at (AT) n microsatellites suggests a different mechanism for mismatch generation at these sites. (g3journal.org)
  • human
  • However, when used to refer to the number of repeating units of genetic information that are sufficient to encode the blueprint for something as complex as a human being, it never ceases to amaze me that this number is big enough! (bmj.com)
  • average
  • The average number of repetitions varies by ethnicity, with Caucasians exhibiting an average of 21 CAG repeats, and Blacks 18. (wikipedia.org)