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Chromosome 22 is the second smallest human chromosome, spanning about 51 million DNA base pairs and representing between 1.5 and 2% of the total DNA in cells. In 1999, researchers working on the Human Genome Project announced they had determined the sequence of base pairs that make up this chromosome. Chromosome 22 was the first human ...
In humans, chromosomes Y and 22 have the greatest proportion of SDs: 50.4% and 11.9% respectively. [2] SRGAP2 is an SD. Misalignment of LCRs during non-allelic homologous recombination (NAHR) [ 3 ] is an important mechanism underlying the chromosomal microdeletion disorders as well as their reciprocal duplication partners. [ 4 ]
The chromosomal defect in the Philadelphia chromosome is a reciprocal translocation, in which parts of two chromosomes, 9 and 22, swap places. The result is that a fusion gene is created by juxtaposing the ABL1 gene on chromosome 9 (region q34) to a part of the BCR (breakpoint cluster region) gene on chromosome 22 (region q11).
Because eukaryotes have linear chromosomes, DNA replication is unable to reach the very end of the chromosomes. Due to this problem, DNA is lost in each replication cycle from the end of the chromosome. Telomeres are regions of repetitive DNA close to the ends and help prevent loss of genes due to this shortening. Shortening of the telomeres is ...
These microduplications likely represent the predicted reciprocal rearrangements to the microdeletions characterized in the 22q11.2 region. [2] Smaller microduplications may occur within this highly dynamic with frequent rearrangements using alternative low-copy repeats as recombination substrates within and distal to the DiGeorge syndrome region.
The hierarchical structure through which DNA is packaged into chromosomes. The organization of DNA within the nucleus begins with the 10 nm fiber, a "beads-on-a-string" structure [24] made of nucleosomes connected by 20-60bp linkers. A fiber of nucleosomes is interrupted by regions of accessible DNA, which are 100-1000bp long regions devoid of ...
The largest regions on each chromosome are the short arm p and the long arm q, separated by a narrow region near the center called the centromere. [1] Other specific regions have also been defined, some of which are similarly found on every chromosome, while others are only present in certain chromosomes. Named regions include: Arms (p and q ...
The locus of C22orf15 in humans is on the long arm (q) of chromosome 22 in region 11, band 23 (22q11.23); it spans 3,340 base pairs on the plus strand from base pair 23,762,523 to 23,765,863 and contains ten introns and six exons. [5] [6] Overview of C22orf15 gene transcript C22orf15 Gene Neighborhood