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Chromosomal reciprocal translocation of the 4th and 20th chromosome. In genetics, chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. This includes balanced and unbalanced translocation, with two main types: reciprocal, and Robertsonian translocation.
SATB2 is a 733 amino-acid homeodomain-containing human protein with a molecular weight of 82.5 kDa encoded by the SATB2 gene on 2q33. The protein contains two degenerate homeodomain regions known as CUT domains (amino acid 352–437 and 482–560) and a classical homeodomain (amino acid 614–677).
Patients with MYC-R have inferior outcomes and can be classified as single-hit, when they only have MYC-R; as double hit when the rearrangement is accompanied by a translocation of BCL2 or BCL6; and as triple hit when MYC-R includes both BCL2 and BCL6. Double and triple hit lymphoma have been recently classified as high-grade B-cell lymphoma ...
Genomic structural variation is the variation in structure of an organism's chromosome, such as deletions, duplications, copy-number variants, insertions, inversions and translocations. Originally, a structure variation affects a sequence length about 1kb to 3Mb, which is larger than SNPs and smaller than chromosome abnormality (though the ...
Balancer chromosomes were first used in the fruit fly by Hermann Muller, who pioneered the use of radiation for organismal mutagenesis. [2]In the modern usage of balancer chromosomes, random mutations are first induced by exposing living organisms with otherwise normal chromosomes to substances which cause DNA damage; in flies and nematodes, this usually occurs by feeding larvae ethyl ...
A Robertsonian translocation in balanced form results in no excess or deficit of genetic material and causes no health difficulties. In unbalanced forms, Robertsonian translocations cause chromosomal deletions or addition and result in syndromes of multiple malformations, including trisomy 13 (Patau syndrome) and trisomy 21 (Down syndrome). The ...
In evolutionary biology, a balanced lethal system is a situation where recessive lethal alleles are present on two homologous chromosomes. [1] Each of the chromosomes in such a pair carries a different lethal allele, which is compensated for by the functioning allele on the other chromosome. [ 1 ]
The physical role of the centromere is to act as the site of assembly of the kinetochores – a highly complex multiprotein structure that is responsible for the actual events of chromosome segregation – i.e. binding microtubules and signaling to the cell cycle machinery when all chromosomes have adopted correct attachments to the spindle, so ...