Chapter 9Organization of the Human Genome.ppt

* 09_11.jpg * 09_12.jpg * 09_13.jpg * 09_14.jpg * 09_16.jpg * 09_17.jpg * 09_17.jpg * 09_18.jpg * 09_19.jpg * 09_15.jpg * 09_15_2.jpg Nonprocessed pseudogenes in a dispersed gene family: Examples exist in the NF1 gene family neurofibromatosis type I located close to the centromere pericentromeric and the PDK1 adult polycystic kidney disease genes located close the telomere subtelomeric . Human pericentromeric contain sequences that have been copied recently during evolution and are located on several chromosomes. Subtelomeric regions are unstable and prone to duplication Figure 9.13 09_13.jpg Processed pseudogenes in a dispersed polypeptide-encoding gene family: Interspersed gene families often have copies of defective gene copies containing the exons, no introns, and at one end contain an oligo dA / T sequence. They originate by retrotransposition with cellular reverse transcriptase and the cDNA is integrated into chromosomal DNA using the LINE1 transposition machinery Fig. 9.14 . Processed pseudogenes are typically not expressed because they lack a promoter but sometimes they are integrated in the chromosome next to a promoter and are expressed selection pressure may ensure continued expression. Such expressed pseudogenes are known as retrogenes. 09_14.jpg 4. Tandemly repeated noncoding DNA Occurs in arrays or blocks of tandem repeats and could be simple 1-10 nucleotides or moderately complex tens or hundreds nucleotides of sequence which may be a simple one. Arrays occur at a few or many chromosomal locations. - Satellite DNA - Very large arrays of tandemly repeated DNA which are not transcribed - Each repeat may be a simple sequence or a moderately complex one Table 9.14 - Makes up most of the heterochromatin and is found in the vicinity of the centromeres pericentromeric heterochromatin and is transcriptionally inactive. - Satellite I, II, and III are short repeats with different base composition than the rest of the geno