• 1,2 Substantial loss of TH enzymatic activity as a consequence of rare inactivating mutations has profound consequences in humans 1 and in mice with targeted ablation of the TH locus. (ahajournals.org)
  • The human TH locus also displays more common natural allelic variation such as the tetranucleotide repeat [or microsatellite polymorphism (TCAT) n ] in its first intron, 4 which has been used to probe the role of TH in psychiatric illnesses. (ahajournals.org)
  • The molecular diagnosis was based on the finding of a homozygous missense D652N mutation at a position in SLC26A3 (the known congenital chloride diarrhea locus) that is virtually completely conserved in orthologues and paralogues from invertebrates to humans, and clinical follow-up confirmed the diagnosis. (pnas.org)
  • The location of a schizophrenia susceptibility locus at chromosome 22q11 has been suggested by genome-wide linkage studies. (pnas.org)
  • The human genome contains 14 pseudogenes similar to the FABP5 locus. (atlasgeneticsoncology.org)
  • INK4a/ARF tumor suppressor locus encodes two protein products, INK4a and ARF, essential for controlling tumorigenesis and mutated in more than half of human cancers. (nih.gov)
  • INK4a / ARF locus resides on chromosome 9p21 and spans ≈25 kb. (nih.gov)
  • Similar results were also observed with Ks (substitution rate at synonymous sites) and Ka/Ks (often used to infer the mode and strength of selection). (biomedcentral.com)
  • Ten SNPs have been validated in the coding region of FABP5, 7 missense and 3 synonymous (not affecting the amino acid sequence). (atlasgeneticsoncology.org)
  • Two SNPs in the regulatory region of FABP5 have been identified in association with type 2 diabetes mellitus (T2DM): rs454550 showed significant association with T2DM in a non-Hispanic White sample, and a newly reported SNP at genomic position 82354416 was associated with T2DM in both non-Hispanic White and African sample populations (Bu et al. (atlasgeneticsoncology.org)
  • The lab is using all available gene-to-disease and gene-to-pathway association data to study the effects of non-synonymous SNPs and other important polymorphisms that occur in functional domains of proteins in specific diseases and biological processes. (lifeboat.com)
  • however, the disorders are probably specific to mammals, and may coincide with the translocation of the loci to the X chromosome after the speciation in birds. (qxmd.com)
  • Sequencing of CYP17A1 demonstrated homozygosity for a non-synonymous mutation (ie, one that changes the amino acid sequence of the protein) previously described in the Chinese population. (mja.com.au)
  • The physiological and phenotypic differences between human and chimpanzee are largely specified by our genomic differences. (biomedcentral.com)
  • However, these phenotypic differences have been associated with specific human-chimpanzee sequence differences in fewer than a handful of cases. (biomedcentral.com)
  • Microdeletions of chromosome 22q11 are associated with variable phenotypic expression that often includes learning disabilities, palatal abnormalities, congenital heart defects, and mildly dysmorphic facial features ( 1 ). (pnas.org)
  • In this study we have shown that, paradoxically, synonymous site divergence (dS) at non-CpG sites is highest in regions of open chromatin, primarily as a result of an increased number of transitions, while the rates of other traditional measures of mutation (intergenic, intronic and ancient repeat divergence as well as SNP density) are highest in closed regions of the genome. (biomedcentral.com)
  • The availability of a map of long-range chromatin structure across the human genome [ 1 ] allows us to assess this idea and, through the comparison of various measures of neutral variation, we have identified those forms of chromatin structure associated with the highest rates of background mutation. (biomedcentral.com)
  • In light of the evidence for suggestive linkage for schizophrenia on chromosome 22 (reviewed in ref. 3 ), patients with the 22q11 microdeletion were evaluated for psychiatric symptoms or disorders, and a relatively high frequency of severe mental illness has since been reported. (pnas.org)
  • Does common genetic variation at human TH alter autonomic activity and predispose to cardiovascular disease? (ahajournals.org)
  • Conclusions- We conclude that human catecholamine secretory traits are heritable, displaying joint genetic determination (pleiotropy) with autonomic activity and finally with blood pressure in the population. (ahajournals.org)
  • The origin and migration of modern humans can be documented with reasonable certainty with archeological, linguistic, & molecular genetic analysis. (brainscape.com)
  • Here, choosing a DNA sample from a population of interest due to its relative geographical isolation and genetic impact on further populations, we extend the above studies through the generation of 11-fold coverage of the first Irish human genome sequence. (biomedcentral.com)
  • By mapping out the entire genetic blueprint of a human, and as the culmination of a decade long effort by a variety of centers and laboratories from around the world, it represented a significant technical as well as scientific achievement. (biomedcentral.com)
  • Rosenberg NA et al (2002) Genetic structure of human populations. (thethinkingatheist.com)
  • For purposes of comparison, the discordance rate between self-reported sex and markers on the X chromosome in the study was actually higher that the discordance rate between self-reported race and the genetic cluster membership. (thethinkingatheist.com)
  • Accordingly, in this case, major self-identified race/ethnicity and genetic cluster are effectively synonymous'' (Tang et al. (thethinkingatheist.com)
  • Witherspoon DJ et al (2007) Genetic similarities within and between human populations. (thethinkingatheist.com)
  • A good measure of the robustness of racial genetic differentiation is: ''How often does it happen that a pair of individuals from one population is genetically more dissimilar than two individuals chosen from two different populations? (thethinkingatheist.com)
  • All of these lines of evidence are consistent with predictions from a previously proposed hypothesis of balancing selection on epistatic interactions between C4BPA and ZP3 at fertilization that lead to the evolution of co-adapted allele pairs. (peerj.com)
  • It is also unclear at which developmental stages, and in which tissues, such human-specific adaptations are first manifested. (biomedcentral.com)
  • Variant cell cycles are used to achieve developmental strategies [ 2 - 4 ]. (royalsocietypublishing.org)
  • This small group became the founder population for all humans living outside of Africa. (brainscape.com)
  • Therefore, efficient strategies for selectively sequencing complete coding regions (i.e., "whole exome") have the potential to contribute to the understanding of rare and common human diseases. (pnas.org)
  • This radical transformation in human understanding - which has come to a peak in the mid 1990's - I shall call " the new evolutionary enlightenment" . (blogspot.com)
  • Patient cells exhibited deficiency in BRCA1 and RAD51 localization to DNA-damage sites, combined with radial chromosome formation and hypersensitivity to ICL-inducing agents. (aacrjournals.org)
  • Although the microdeletion occurs in the population at a rate of 0.025%, it has been found in 2% of adult schizophrenic patients ( 6 ) and in 6% of cases with childhood onset schizophrenia (COS) ( 7 ). (pnas.org)
  • Over several decades, various forms of genomic analysis of the human major histocompatibility complex (MHC) have been extremely successful in picking up many disease associations. (nih.gov)
  • Despite the high price it would be a valuable addition to collections, and recommended reading for those with an interest in the molecular biology of human pathogenic fungi. (caister.com)
  • Based on Expressed Sequence Tag (EST) data, FABP5 RNA is present in a wide range of human tissues, with highest levels in the uterus, pharynx, bone, and heart. (atlasgeneticsoncology.org)
  • Catecholamine secretory traits were significantly heritable (h 2 ), as were stress-induced blood pressure changes. (ahajournals.org)
  • The protein is also the receptor for the human malarial parasites Plasmodium vivax, Plasmodium knowlesi and simian malarial parasite Plasmodium cynomolgi. (wikipedia.org)
  • The genome sequence has indeed prompted a variety of large scale post-genome efforts, including the encyclopedia of DNA elements (ENCODE) project [ 2 ], which has pointed towards increased complexity at the levels of the genome and transcriptome. (biomedcentral.com)
  • The human sequence's high statistical coverage gives rise to an assembly that is a mosaic of contributions from multiple individuals and thus does not represent any single genome. (biomedcentral.com)
  • Coalescent simulations suggest that TH haplotype 2 likely arose ≈380 000 years ago. (ahajournals.org)
  • The classical MHC is shown on the short arm of chromosome 6 (base pair positions 29,640,000-33,120,000 from the Genome Reference Consortium Human Build 37, hg19), comprising the class I, II, and III regions. (nih.gov)
  • For example, compared to rodents humans have much shorter telomeres, which are regions of highly repetitive DNA at the end of chromosomes that help shield against damage. (lifeboat.com)
  • In hypertension, 2 independent case-control studies (1266 subjects with 53% women and 927 subjects with 24% women) replicated the effect of C-824T in the determination of blood pressure. (ahajournals.org)
  • In the human population DQ is highly variable, the β subunit more so than the alpha chain. (wikipedia.org)
  • Bruce's research lab is devoted to unraveling both the role and mechanism by which the functional capabilities of the human genome shape human health and our ability to adapt to stressful challenges. (lifeboat.com)
  • Serum aldosterone and renin levels were low ( Box 2 ). (mja.com.au)