• genetic
  • This genetic change fuses part of the ZMYM2 gene on chromosome 13 with part of the FGFR1 gene on chromosome 8. (nih.gov)
  • The loss of genetic material from the middle of chromosome 13 is common in cancers of blood-forming cells (leukemias), cancers of immune system cells (lymphomas), and other related cancers. (nih.gov)
  • Most people with Robertsonian translocations have only 45 chromosomes in each of their cells, yet all essential genetic material is present, and they appear normal. (wikipedia.org)
  • The Institute's research in human genetics focuses on the characterisation of human genetic variation in health and disease. (wikipedia.org)
  • These breaks can be caused by natural and medical radiation or other environmental exposures, but also occur when chromosomes exchange genetic material during a special type of cell division that creates sperm and eggs (meiosis). (wikipedia.org)
  • Human genetic variation is the genetic differences in and among populations. (wikipedia.org)
  • The differences between populations represent a small proportion of overall human genetic variation. (wikipedia.org)
  • The study of human genetic variation has evolutionary significance and medical applications. (wikipedia.org)
  • For medicine, study of human genetic variation may be important because some disease-causing alleles occur more often in people from specific geographic regions. (wikipedia.org)
  • Population differences occur due to several causes, including random genetic drift, the influence of small migrant populations (the "founder effect"), and differences in selective pressures acting on human populations in different environments. (wikipedia.org)
  • In humans, founder effect and past small population size (increasing the likelihood of genetic drift) may have had an important influence in neutral differences between populations. (wikipedia.org)
  • Nearly all (>99.9%) of these sites are small differences, either single nucleotide polymorphisms or brief insertion-deletions in the genetic sequence, but structural variations account for a greater number of base-pairs than the SNPs and indels. (wikipedia.org)
  • diploid
  • Painter in 1922 was not certain whether the diploid of humans was 46 or 48, at first favoring 46, but revised his opinion from 46 to 48, and he correctly insisted on humans having an XX/XY system. (wikipedia.org)
  • occur
  • Up-regulation of ALOX5 may occur during the maturation of leukocytes and in human neutrophils treated with granulocyte macrophage colony-stimulating factor and then stimulated with physiological agents. (wikipedia.org)
  • Alleles occur at different frequencies in different human populations, with populations that are more geographically and ancestrally remote tending to differ more, a phenomenon known as isolation-by-distance. (wikipedia.org)
  • species
  • The advances in technology allow the Sanger Institute to carry out sequencing of the genomes of individual humans, vertebrate species and pathogens, at an ever-increasing pace and reducing cost. (wikipedia.org)
  • While the number of cells in plants and animals varies from species to species, humans contain more than 10 trillion (1013) cells. (wikipedia.org)
  • mitosis
  • Joe Hin Tjio working in Albert Levan's lab was responsible for finding the approach: Using cells in tissue culture Pretreating cells in a hypotonic solution, which swells them and spreads the chromosomes Arresting mitosis in metaphase by a solution of colchicine Squashing the preparation on the slide forcing the chromosomes into a single plane Cutting up a photomicrograph and arranging the result into an indisputable karyogram. (wikipedia.org)
  • exon
  • citation needed] There are slight variations (mutations/polymorphisms) in the human gene: A 48-base pair VNTR in exon 3 C-521T in the promoter 13-base pair deletion of bases 235 to 247 in exon 1 12 base pair repeat in exon 1. (wikipedia.org)
  • The 48-base pair variable number tandem repeat (VNTR) in exon 3 range from 2 to 11 repeats. (wikipedia.org)
  • occurs
  • An analysis of normal human tissues shows that C12orf40 expression occurs primarily in the testis, suggesting importance to the male reproductive system. (wikipedia.org)
  • variants
  • There may be multiple variants of any given gene in the human population (alleles), a situation called polymorphism. (wikipedia.org)
  • As of 2017[update], the Single Nucleotide Polymorphism Database (dbSNP), which lists SNP and other variants, listed 324 million variants found in sequenced human genomes. (wikipedia.org)
  • While human results are controversial, an increasing body of animal evidence has linked DRD4 variants with novelty seeking, and new evidence suggests that human encroachment may exert selection pressure in favor of DRD4 variants associated with novelty seeking. (wikipedia.org)
  • It can be transcribed into 15 transcript variants, which in turn can produce 13 different isoforms of the protein. (wikipedia.org)
  • promoter
  • Kelavkar and Badr (1999) described experiments yielding data that supported the hypothesis that loss of the TP53 gene, or gain-of-function activities resulting from the expression of its mutant forms, regulates ALOX15 promoter activity in human and in mouse, albeit in directionally opposite manners. (wikipedia.org)
  • The promoter is 819 base pairs in length and is highly conserved in mammals. (wikipedia.org)
  • mosaic
  • Furthermore, we detected two chromosome X monosomy mosaic cases in which the mosaism rates estimated by array-MLPA were basically consistent with the results from karyotyping. (nih.gov)
  • For mosaic samples, the ratio reflects the extent of mosaicism, e.g. ratio 0.75 for a 50% chromosome X monosomy in a female sample. (nih.gov)
  • centromeres
  • Attention is paid to their length, the position of the centromeres, banding pattern, any differences between the sex chromosomes, and any other physical characteristics. (wikipedia.org)
  • tissues
  • I think this all stems from fear of using non-human tissues due to lack of understanding of the subject matter. (thethinkingatheist.com)
  • We have examined the structure and expression of the Rb gene on chromosome 13 in matched pairs of normal and malignant colonic tissues from 68 patients. (springer.com)
  • Microarray tissue expression patterns from GEO were analyzed and showed that CCDC47 appears to be an ubiquitously expressed at moderate levels in many different human tissues. (wikipedia.org)
  • Researchers
  • In addition to what you said above, I heard researchers are recently trying to use animal organs such as that of a pig's to be used for organ transplantation into humans. (thethinkingatheist.com)
  • heterozygous
  • Bookstein R, Lee EY-HP, To H, Young LJ, Sery TW, Hayes RC, Friedmann T, Lee W-H (1988) Human retinoblastoma susceptibility gene: genomic organization and analysis of heterozygous intragenic deletion mutants. (springer.com)
  • normally
  • 22 ] showed that human cytomegalovirus (HCMV) miRNA, miR-UL112, inhibits the translation of a cellular gene MICB, which is normally activated when cells are subjected to severe stress, such as viral infection. (biomedcentral.com)
  • commonly
  • and mouse, rat, and rabbit rodent orthologs of human ALOX15, which share 74-81% amino acid identity with the human enzyme, are commonly termed Alox15, 12/15-lipoxygenase, 12/15-LOX, or 12/15-LO). (wikipedia.org)
  • enzyme
  • 15-LO is to be distinguished from another human 15-lipoxygenase enzyme, ALOX15B (also termed 15-lipoxygenase-2). (wikipedia.org)
  • Human ALOX15 was initially named arachidonate 15-lipoxygenase or 15-lipoxygenase but subsequent studies uncovered a second human enzyme with 15-lipoxygenase activity as well as various non-human mammalian Alox15 enzymes that are closely related to and therefore orthologs of human ALOX15. (wikipedia.org)
  • Arachidonate 5-lipoxygenase, also known as ALOX5, 5-lipoxygenase, 5-LOX, or 5-LO, is a non-heme iron-containing enzyme (EC 1.13.11.34) that in humans is encoded by the ALOX5 gene. (wikipedia.org)
  • NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 is an enzyme that in humans is encoded by the NDUFA13 gene. (wikipedia.org)
  • Diagram
  • In humans, cholesterol synthesis begins with the mevalonate pathway (see diagram), leading to the synthesis of farnesyl pyrophosphate (FPP). (wikipedia.org)