• 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)
  • 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)
  • enzymes
  • Many of the latter Alox15 enzymes nonetheless possess predominantly or exclusively 12-lipoxygenase rather than 15-lipoxygenase activity. (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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • Single-base-pair substitutions account for about half as much genetic change as does gene duplication. (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)
  • 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)
  • amino acid
  • 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)
  • 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)
  • 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)
  • 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)
  • POTEB has 8 predicted paralogs (According to protein sequence) in humans, with most paralogs being located on different human chromosomes. (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)
  • lineage
  • Is this because of an excess of chromosome fissions in the human lineage or an excess of chromosome fusions in the zebrafish lineage? (zfin.org)
  • Comparative analysis suggests that an excess of chromosome fissions in the tetrapod lineage may account for chromosome numbers and provides histories for several human chromosomes. (zfin.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)
  • suggests
  • Large numbers of complex rearrangements in localised regions of single chromosomes or chromosome arms (showed by high density and clustered breakpoints) which suggests that chromosomes need to be condensed e.g. in mitosis for chromothripsis to occur. (wikipedia.org)
  • 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)
  • segments
  • 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)
  • Consideration of duplicate chromosome segments shows that at least 20% of duplicated gene pairs may be retained from this event. (zfin.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)
  • 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)
  • 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)
  • long
  • Robertsonian translocation (ROB) is a rare form of chromosomal rearrangement where the participating chromosomes break at their centromeres and the long arms fuse to form a single, large chromosome with a single centromere. (wikipedia.org)
  • 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)
  • 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)
  • chimpanzee
  • Human and chimpanzee chromosomes are very similar. (wikipedia.org)
  • Analysis of the genome was published in Nature on September 1, 2005, in an article produced by the Chimpanzee Sequencing and Analysis Consortium, a group of scientists which is supported in part by the National Human Genome Research Institute, one of the National Institutes of Health. (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)