• genomes
  • Human genomes include both protein-coding DNA genes and noncoding DNA . (wikipedia.org)
  • Haploid human genomes, which are contained in germ cells (the egg and sperm gamete cells created in the meiosis phase of sexual reproduction before fertilization creates a zygote ) consist of three billion DNA base pairs , while diploid genomes (found in somatic cells ) have twice the DNA content. (wikipedia.org)
  • While there are significant differences among the genomes of human individuals (on the order of 0.1%), these are considerably smaller than the differences between humans and their closest living relatives, the chimpanzees (approximately 4% ) and bonobos . (wikipedia.org)
  • As of 2012, thousands of human genomes have been completely sequenced, and many more have been mapped at lower levels of resolution. (wikipedia.org)
  • Genes in well-studied cancer-associated signaling pathways also contain significantly more unstable repeats in tumor genomes. (biomedcentral.com)
  • Introduction Repetitive DNA sequence elements are widely abundant in the human and the other eukaryotic genomes. (cancer-basics.com)
  • Initially, we annotated the human and mouse genomes with STRs (see Figure 1 for an example and Methods for how STRs are identified). (biomedcentral.com)
  • 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)
  • alleles
  • specifically, the length differences observed between microsatellite alleles are generally multiples of the repeat unit length. (wikipedia.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)
  • mediate
  • The mechanism by which trinucleotide secondary structures mediate expansions is not well understood. (embopress.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)
  • androgen
  • 4, 10 Hypospadias is also a manifestation in some rare single gene traits affecting sex differentiation, for example, the X linked partial androgen insensitivity syndrome and the recessive 5-alpha-reductase deficiency. (bmj.com)
  • The androgen receptor ( AR ) gene, located at Xq11-12, has been implicated as a risk factor for the development of prostate cancer. (aacrjournals.org)
  • This combination functions as a transcription complex to turn on androgen gene expression. (wikipedia.org)
  • no method is currently available to correct the malfunctioning androgen receptor proteins produced by AR gene mutations. (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)
  • 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)
  • Molecular
  • The origin and migration of modern humans can be documented with reasonable certainty with archeological, linguistic, & molecular genetic analysis. (brainscape.com)
  • Molecular characterization, phylogenetic analysis and expression profiling of myoglobin and cytoglobin genes in response to heat stress in channel catfish Ictalurus punctatus. (auburn.edu)
  • introns
  • Introns are found in the genes of most organisms and many viruses, and can be located in a wide range of genes, including those that generate proteins , ribosomal RNA (rRNA), and transfer RNA (tRNA). (wn.com)
  • proteins
  • In contrast, in mutant strains carrying mutations in proteins involved in DNA replication or repair, expansions are frequently seen. (embopress.org)
  • When proteins are generated from intron-containing genes, RNA splicing takes place as part of the RNA processing pathway that follows transcription and precedes translation . (wn.com)
  • intron
  • In breast cancer, a dinucleotide CA-repeat within the first intron of the epidermal growth factor receptor ( EGFR ) gene correlates with the gene's transcription levels. (biomedcentral.com)
  • 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)
  • The term intron refers to both the DNA sequence within a gene and the corresponding sequence in RNA transcripts . (wn.com)
  • The word intron is derived from the term intragenic region , i.e. a region inside a gene. (wn.com)
  • hereditary
  • 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)
  • relatively
  • Homo sapiens remained restricted to Africa and the Middle East until about 60,000 - 70,000 years ago, when a relatively small group of humans departed from eastern Africa across the mouth of the Red Sea and migrated into Asia and Europe. (brainscape.com)
  • phenotype
  • Thus, the phenotype of traits linked to genes found in either chloroplasts or mitochondria are determined exclusively by the maternal parent. (wikipedia.org)
  • base pairs
  • Four divergent domains consisted of microsatellite repeats biased in composition with purines on one strand and pyrimidines on the other, including mononucleotide repeats of C:G base pairs approximately 20 bp in length. (wikipedia.org)
  • Between the strand-biased microsatellite repeats and G:C mononucleotide repeats, all sequence variations retained one or two base pairs with A (purine) interrupting the pyrimidine-rich strand and T (pyrimidine) interrupting the purine-rich strand. (wikipedia.org)
  • 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)
  • lengths
  • In this latter study, short AR CAG repeat lengths predisposed to higher histological grade and more advanced stage prostate cancer. (aacrjournals.org)
  • replication
  • Many amino acid tandem repeats are likely to originate by replication slippage of triplet repeats in the coding sequence. (biomedsearch.com)
  • During lagging-strand synthesis, unusual structures such as slipped strands may form, which may result in expansions or contractions in the next replication round. (genetics.org)
  • In addition, stalling of the replication fork could result in double-strand breaks (DSBs) or fork reversal, leading to repeat length alterations ( M irkin and M irkin 2007 ). (genetics.org)
  • susceptibility
  • 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)
  • tumor
  • Expression of tumor suppressor genes in channel catfish after bacterial infections. (auburn.edu)
  • intronic
  • However, stable intronic sequence RNAs (sisRNAs) have been described from oocytes of the frog Xenopus, from Drosophila embryos, and from human cell lines. (wn.com)
  • significantly
  • 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)
  • found
  • In all RU variants examined, tandem repeats of the CGCAC:GTGCG sequence motif were also found adjacent to a C:G mononucleotide repeat within one of the repetitive pyrimidine:purine divergent domains. (wikipedia.org)
  • 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)