• binding protein
  • Genome-wide association studies and integrative genomics approaches in COPD have demonstrated significant associations with SNPs in the chromosome 15q region that includes CHRNA3 (cholinergic nicotine receptor alpha3) and IREB2 (iron regulatory binding protein 2).We investigated whether SNPs in the chromosome 15q region would be modifiers for lung function and COPD in AAT deficiency. (nih.gov)
  • Examples of these compounds in the human genome include AGBL1 and AGBL2, known also as ATP/GTP Binding Protein-Like 1 and 2, respectively. (wikipedia.org)
  • genome
  • Duplicated chromosome segments suggest that a genome duplication occurred in ray-fin phylogeny, and comparative studies suggest that this event happened deep in the ancestry of teleost fish. (zfin.org)
  • Despite genome duplication, zebrafish and humans have about the same number of chromosomes, and zebrafish chromosomes are mosaically orthologous to several human chromosomes. (zfin.org)
  • Closing gaps in the human genome using sequencing by synthesis. (broadinstitute.org)
  • The most recent release of the finished human genome contains 260 euchromatic gaps (excluding chromosome Y). Recent work has helped explain a large number of these unresolved regions as 'structural' in nature. (broadinstitute.org)
  • The discovered function of FAM63B protein is a transporter of vaccinia virus in the human genome. (wikipedia.org)
  • In February 2001, the international science community celebrated completion of the first draft of the human genome. (llnl.gov)
  • Researchers from Lawrence Berkeley, Lawrence Livermore, and Los Alamos national laboratories at the Joint Genome Institute announced in 2000 they had decoded in draft form the genetic information of human chromosomes 5, 16, and 19. (llnl.gov)
  • Over the last 50 years, scientists from Lawrence Livermore National Laboratory's (LLNL) Biosciences and Biotechnology Division (BBTD) have changed the world by being instrumental researchers on the Human Genome Project, developing high-tech devices to sort cells and analyze DNA and providing the science for federal programs to defend the nation from biological weapons. (llnl.gov)
  • It's why we've been able to help develop such things as chromosome painting, biological accelerator mass spectrometry , The Human Genome Project and systems for monitoring for the release of biological agents. (llnl.gov)
  • A distinguishing characteristic of eukaryotes, the nucleus contains the genetic information ( genome ) of the cell in the form of its chromosomes. (encyclopedia.com)
  • Subsequent investigations using genome-wide paired-end sequencing and SNP array analysis have found similar patterns of chromothripsis in various human cancers, e.g. (wikipedia.org)
  • The more we look at the human genome, the more questions people have. (sciencemag.org)
  • subsequent
  • 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)
  • nucleotides
  • Claim 6: An isolated DNA coding for a BRCA1 polypeptide, said polypeptide having the amino acid sequence set forth in SEQ ID NO:2, wherein said DNA has the nucleotide sequence set forth in SEQ ID NO:1, and having at least 15 nucleotides of the DNA of claim 2. (jdsupra.com)
  • A pair of single-stranded DNA primers of at least 15 nucleotides in length for determination of the nucleotide sequence of a BRCA2 gene by a polymerase chain reaction, the sequence of said primers being isolated from human chromosome 13, wherein the use of said primers in a polymerase chain reaction results in the synthesis of DNA comprising all or at least 15 contiguous nucleotides of the BRCA2 gene. (jdsupra.com)
  • metaphase
  • 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)
  • 4. The method according to claim 1, wherein the cellular material is a metaphase chromosome. (google.com)
  • Nucleotide
  • Claim 16: A pair of single-stranded DNA primers for determination of a nucleotide sequence of a BRCA1 gene by a polymerase chin reaction, the sequence of said primers being derived from human chromosome 17q, wherein the use of said primers in a polymerase chain reaction results in the synthesis of DNA having all or part of the sequence of the BRCA1 gene. (jdsupra.com)
  • Claim 17: The pair of primers of claim 16 wherein said BRCA1 gene has the nucleotide sequence set forth in SEQ ID NO:1. (jdsupra.com)
  • Species
  • The term is also used for the complete set of chromosomes in a species or in an individual organism and for a test that detects this complement or measures the number. (wikipedia.org)
  • enzymes
  • Many of the latter Alox15 enzymes nonetheless possess predominantly or exclusively 12-lipoxygenase rather than 15-lipoxygenase activity. (wikipedia.org)
  • organisms
  • Reptiles, insects and birds do not seem to show much conservation of this protein while bacteria and protists show similar conservation as in birds and reptiles, but these organisms are much more evolutionarily distant from humans. (wikipedia.org)
  • genetic
  • If, for example, the long arms of chromosomes 13 and 14 fuse, no significant genetic material is lost-and the person is completely normal in spite of the translocation. (wikipedia.org)
  • Furthermore, the European mutation is associated with the largest region of diminished genetic variation in the CEU HapMap population, suggesting the possibility that the A111T mutation may be the subject of the single largest degree of selection in human populations of European ancestry. (wikipedia.org)
  • Consequently
  • Consequently, human ALOX15 is now referred to as arachidonate-15-lipoxygenase-1, 15-lipoxygenase-1, 15-LOX-1, 15-LO-1, human 12/15-lipoxygenase, leukocyte-type arachidonate 12-lipoxygenase, or arachidonate omega-6 lipoxygenase. (wikipedia.org)
  • Deletion of certain fragments, including deletions that are a few hundred base pairs long, and hence gene segments is possible and consequently the production of double minute chromosomes. (wikipedia.org)
  • deletion
  • In most cases (about 70%)[citation needed], people with Angelman syndrome have a deletion in the maternal copy of chromosome 15. (wikipedia.org)
  • MutSβ can compensate somewhat for loss of base-base mispair correction functions, but is not suited for repairing many short, 1-2 base pair insertion/deletion loops. (wikipedia.org)
  • found
  • A mutation in the HERC2 gene adjacent to OCA2, affecting OCA2's expression in the human iris, is found common to nearly all people with blue eyes. (wikipedia.org)
  • FAM63B variant a is the most common isoform found in humans. (wikipedia.org)
  • In 2015, it was found that chromothripsis can also be curative: a woman who had WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome, an extremely rare autosomal dominant combined immunodeficiency disease, found her symptoms disappeared during her 30s after chromothripsis of chromosome 2 deleted the disease allele. (wikipedia.org)
  • In humans, the encoding gene for MSH3 is found on chromosome 5 at location 5q11-q12 upstream of the dihydrofolate reductase (DHFR) gene. (wikipedia.org)
  • orthologs
  • 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)
  • different
  • Six different characteristics of karyotypes are usually observed and compared: Differences in absolute sizes of chromosomes. (wikipedia.org)
  • this, along with their different principal product formation (e.g. 12-HETE rather than 15-HETE) has made the findings of Alox15 functions in rat, mouse, or rabbit models difficult to extrapolate to the function of ALOX15 in humans. (wikipedia.org)
  • POTEB has 8 predicted paralogs (According to protein sequence) in humans, with most paralogs being located on different human chromosomes. (wikipedia.org)
  • carrier
  • Sodium/potassium/calcium exchanger 5 (NCKX5), also known as solute carrier family 24 member 5 (SLC24A5), is a protein that in humans is encoded by the SLC24A5 gene that has a major influence on natural skin colour variation. (wikipedia.org)
  • homologue
  • OCA2 encodes the human homologue of the mouse p (pink-eyed dilution) gene. (wikipedia.org)
  • DNA mismatch repair protein, MutS Homolog 3 (MSH3) is a human homologue of the bacterial mismatch repair protein MutS that participates in the mismatch repair (MMR) system. (wikipedia.org)
  • single
  • It has been hypothesized that all blue-eyed humans share a single common ancestor with whom the mutation originated. (wikipedia.org)
  • Mutation
  • Human Mutation. (wikipedia.org)
  • A unique feature of 8p is a region of about 15 megabases that appears to have a high mutation rate. (wikipedia.org)
  • This region shows a significant divergence between human and chimpanzee, suggesting that its high mutation rates have contributed to the evolution of the human brain. (wikipedia.org)
  • long arm
  • Their children, however, may either be normal, carry the fusion chromosome (depending which chromosome is represented in the gamete), or they may inherit a missing or extra long arm of an acrocentric chromosome (phenotype affected). (wikipedia.org)
  • region
  • Two of the conditions (Angelman syndrome and Prader-Willi syndrome) involve a loss of gene activity in the same part of chromosome 15, the 15q11.2-q13.1 region. (wikipedia.org)
  • In about 70% of cases,[citation needed] Prader-Willi syndrome occurs when the 15q11-q13 region of the paternal chromosome 15 is deleted. (wikipedia.org)
  • regulates
  • 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)