Chromosome related diseases and chromosomal disorders Alexander endler
Chromosome related diseases and Chromosomal disorders Alexander Endler
Genome The complete human genome consists out of 3 billion base pairs distributed on 23 chromosomes, but only 10%are translated into proteins If unwound and tied together, the strands of dNA would stretch more than 5 feet 150 cm per cell In eukaryotes the dNa is structured in a complex of dna and protein =Chromatin and the basic unit of the chromatin structure is a nucleosome 8968息是 目自 23 4 56 78 101112 131415161718 B88881 19202122 X Y
Genome • The complete human genome consists out of 3 billion base pairs distributed on 23 chromosomes, but only 10% are translated into proteins • If unwound and tied together, the strands of DNA would stretch more than 5 feet = 150 cm per cell . • In eukaryotes the DNA is structured in a complex of DNA and protein =Chromatin and the basic unit of the chromatin structure is a nucleosome
Number of visible bands(depends on resolution Chromosome Ideogram (Giemsa-staining bands) 13.33 13 p 12 121 -11.1 1111 Centromere 11 Long arm, region 1, sub- 12 region 3, sub-region 1 band 2 13.12 13 13.13 13.2 Chromosome number 12 Long arm, region 1, Band 3 133 14.1 14 142 P= short arm, g= long 15 Each arm has numbered regions 21.31 21.2 beginning with 1 nearest the centromere Sub-bands and sub-sub-bands regions) are visible at hi 241 -24.12 resolution and designated by 242 24.21 adding a digit to the number of 243 423 the region Chromosome 12 Chromosome 12
Chromosome Ideogram (Giemsa-staining bands) Centromere Chromosome number = 12 P= short arm, q= long arm. Each arm has numbered regions, beginning with 1 nearest the centromere. Sub-bands and sub-sub-bands ( regions) are visible at higher resolution and designated by adding a digit to the number of the region Number of visible bands(depends on resolution) Long arm, region 1,Band 3 Long arm,region 1, subregion 3, sub-region 1, band 2
Nucleosomes consist out of 8 histone proteins wrapped with 2 loops of dNA consisting out of 140 bp each and about 60 bp are linking the nucleosomes together. Histone H1 is bound to the 60 bp linker. The nucleosomes are wound into solenoids that are stabilized by the Histones H1 30 nm DNA HI histone 6-8 nucleosomes 11 nm Nucleosome histone H1 nucleosome Core of 8 Histone molecules linker DNA Nucleosome histone octamer core
Nucleosomes consist out of 8 histone proteins wrapped with 2 loops of DNA consisting out of 140 bp each and about 60 bp are linking the nucleosomes together. Histone H1 is bound to the 60 bp linker .The nucleosomes are wound into solenoids that are stabilized by the Histones H1
shon region of m DNA double helix beads ona-string 11 nm form of chromatin 30-nm chromatin 30 nm fiber of 6688 packed nucleosomes section of chromosome in an extended form 000a 300 nm condensed section of metaphase 700nm entire metaphase 1400nn