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  • 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)
  • chromosomal regions
  • The most widely accepted and straightforward model for chromothripsis is that within a single chromosome, distinct chromosomal regions become fragmented/shattered almost simultaneously and subsequently rejoined in an incorrect orientation. (wikipedia.org)
  • Six human chromosomal regions were found that may have been under particularly strong and coordinated selection during the past 250,000 years. (wikipedia.org)
  • locus
  • Linear regression was used to identify proinsulin-associated genetic variants.We identified a proinsulin locus on chromosome 15 (rs8029765) and replicated it in data from 20,003 additional individuals. (ox.ac.uk)
  • 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)
  • 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)
  • Species
  • It is expected that by comparing the genomes of humans and other apes, it will be possible to better understand what makes humans distinct from other species from a genetic perspective. (wikipedia.org)
  • transcript
  • It can be transcribed into 15 transcript variants, which in turn can produce 13 different isoforms of the protein. (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)
  • copies
  • People normally have two copies of this chromosome. (wikipedia.org)
  • In 3% to 7% of cases,[citation needed] Angelman syndrome occurs when a person has two copies of the paternal chromosome 15 instead of one copy from each parent. (wikipedia.org)
  • People normally have two copies of this chromosome in each cell, one copy from each parent. (wikipedia.org)
  • In humans, when a Robertsonian translocation joins the long arm of chromosome 21 with the long arm of chromosomes 14 or 15, the heterozygous carrier is phenotypically normal because there are two copies of all major chromosome arms and hence two copies of all essential genes. (wikipedia.org)
  • Common Robertsonian translocations are confined to the acrocentric chromosomes 13, 14, 15, 21 and 22, because the short arms of these chromosomes encode for rRNA which is present in multiple copies. (wikipedia.org)
  • This suggest that the rearrangements took place at a time that both parental copies of the chromosome were present and hence early on the development of the cancer cell. (wikipedia.org)
  • allele
  • 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)
  • These regions contain at least one marker allele that seems unique to the human lineage while the entire chromosomal region shows lower than normal genetic variation. (wikipedia.org)
  • mutation
  • 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)
  • It has been hypothesized that all blue-eyed humans share a single common ancestor with whom the mutation originated. (wikipedia.org)
  • Human Mutation. (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)
  • researchers
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). (wikipedia.org)
  • This information will allow researchers to gain insights into the function of many human genes because the mouse carries virtually the same set of genes as the human but can be used in laboratory research. (genome.gov)
  • The mouse sequence will also allow researchers to recognize functionally important regulatory elements in the human genome by virtue of the fact that they are conserved through the 100 million years of evolution separating humans and mice. (genome.gov)
  • 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)
  • Angelman syndrome results from a loss of gene activity in a specific part of chromosome 15, the 15q11-q13 region. (wikipedia.org)
  • Prader-Willi syndrome is caused by the loss of active genes in a specific part of chromosome 15, the 15q11-q13 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)
  • Rarely, the condition is caused by an abnormality in the DNA region that controls the activity of genes on the paternal chromosome 15. (wikipedia.org)
  • The proximal region of chromosome 15 is one of the genomic hotspots for copy number variants (CNVs). (nih.gov)
  • This pattern suggests that one or a few strongly selected genes in the chromosome region may have been preventing the random accumulation of neutral changes in other nearby genes. (wikipedia.org)
  • One such region on chromosome 7 contains the FOXP2 gene (mentioned above) and this region also includes the Cystic fibrosis transmembrane conductance regulator (CFTR) gene, which is important for ion transport in tissues such as the salt-secreting epithelium of sweat glands. (wikipedia.org)
  • Another such region on chromosome 4 may contain elements regulating the expression of a nearby protocadherin gene that may be important for brain development and function. (wikipedia.org)
  • enzyme
  • Carbohydrate sulfotransferase 14 is an enzyme that in humans is encoded by the CHST14 gene. (wikipedia.org)
  • ALOX15 (also termed arachidonate 15-lipoxygenase, 15-lipoxygenase-1, 15-LO-1, 15-LOX-1) is, like other lipoxygenases, a seminal enzyme in the metabolism of polyunsaturated fatty acids to a wide range of physiologically and pathologically important products. (wikipedia.org)
  • 15-LO is to be distinguished from another human 15-lipoxygenase enzyme, ALOX15B (also termed 15-lipoxygenase-2). (wikipedia.org)
  • commonly
  • A feature of chromosomes that are commonly found to undergo such translocations is that they possess an acrocentric centromere, partitioning the chromosome into a large arm containing the vast majority of its genes, and a short arm with a much smaller proportion of genetic content. (wikipedia.org)
  • sequence
  • The mouse sequence is much further along in the process than the human sequence was at the draft stage,' said Francis S. Collins, M.D., Ph.D., director of the National Human Genome Research Institute (NHGRI). (genome.gov)
  • Having this advanced draft of the mouse sequence will greatly accelerate precise identification of the genetic contributors to those illnesses, leading to better understanding of human disease and improved tests and treatments. (genome.gov)
  • The draft sequence shows the order of the DNA chemical bases A, T, C and G along the mouse chromosomes. (genome.gov)
  • We are now working hard with an international group of experts to explore the content of the sequence and to use it to improve our understanding of the human sequence. (genome.gov)
  • Family with sequence similarity 49, member A, also known as FAM49A, is a protein which in humans is encoded by the FAM49A gene. (wikipedia.org)
  • POTEB has 8 predicted paralogs (According to protein sequence) in humans, with most paralogs being located on different human chromosomes. (wikipedia.org)
  • Gene duplications account for most of the sequence differences between humans and chimps. (wikipedia.org)
  • different
  • A Robertsonian translocation is a type of translocation involving two homologous (paired) or non-homologous chromosomes (i.e. two different chromosomes, not belonging to a homologous pair). (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)
  • In December 2003, a preliminary analysis of 7600 genes shared between the two genomes confirmed that certain genes such as the forkhead-box P2 transcription factor, which is involved in speech development, are different in the human lineage. (wikipedia.org)
  • genomic
  • Chromothripsis is the phenomenon by which up to thousands of clustered chromosomal rearrangements occur in a single event in localised and confined genomic regions in one or a few chromosomes, and is known to be involved in both cancer and congenital diseases. (wikipedia.org)
  • expression
  • 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)
  • Some studies have used POTEB probes to study the expression of POTEB in the human brain. (wikipedia.org)
  • Although changes in expression of genes that are expressed in the brain tend to be less than for other organs (such as liver) on average, gene expression changes in the brain have been more dramatic in the human lineage than in the chimp lineage. (wikipedia.org)
  • Disease
  • We identified 18 patients with an isolated bone marrow clonal chromosomal abnormality, trisomy 15 (with or without -Y), who did not have any morphologic or clinical features of hematologic disease at initial examination. (biomedsearch.com)
  • CHST14/D4ST1 deficiency is the first identified human disease that directly impacts dermatan sulfate production. (wikipedia.org)
  • For most human illnesses, from cancer to autoimmune disease, important insights have come from the study of mouse models. (genome.gov)
  • probes
  • Novel FISH probes identified 2 additional cases of t(15;17)-negative acute promyelocytic leukemia that had cytogenetically invisible insertions. (nih.gov)
  • variation
  • 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)
  • The comparable variation within human populations is 0.5 percent. (wikipedia.org)
  • significantly
  • An 11-SNP score, including the previously identified and the chromosome 15 proinsulin-associated loci, was significantly and negatively associated with baseline IMTmean and IMTmax (the primary cIMT phenotypes) but not with progression measures. (ox.ac.uk)
  • 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)
  • genetic material
  • 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)
  • 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)
  • As mentioned above, gene duplications are a major source of differences between human and chimp genetic material, with about 2.7 percent of the genome now representing differences having been produced by gene duplications or deletions during approximately 6 million years since humans and chimps diverged from their common evolutionary ancestor. (wikipedia.org)
  • findings
  • Timeline of United States discoveries encompasses the breakthroughs of human thought and knowledge of new scientific findings, phenomena, places, things, and what was previously unknown to exist. (wikipedia.org)