39

c

c

https://www.genome.gov/human-genome-project

The result is explained on “All About The Human Genome Project (HGP)”.

c

c

https://www.genome.gov/10001772

An alternative view has the entry page of the “Department of Energy”. Here, many

large-scale projects in physics were managed, which is why this page also highlights the

“Big Data” aspect.

c

c

https://genomics.energy.gov

A detailed review of all data is available in the archive of the Human Genome Project.

c

c

https://web.ornl.gov/sci/techresources/Human_Genome/index.shtml

3.3

A Profile of the Human Genome

So what does our own genome look like? It is important to know that the human genome

comprises about 3.2 billion base pairs (haploid, a complete set, for example in a sex cell)

and is distributed in all body cells as a diploid total stock on 46 chromosomes: 44 auto­

somes, one pair of each chromosome (1 to 22) as well as two sex chromosomes, XX

(woman) or XY (man). There are about 23,700 genes coding for proteins in the human

genome (current status to be looked up at https://www.ensembl.org/Homo_sapiens/Info/

Index). There are also many thousands of RNA genes.

Since only 2–3% of the genome is needed for protein reading frames and only about

10% of the genome for the additional regulatory signals in mRNA, RNA precursors and

finally genes with promoter sequences, the genome was initially seen to be loaded with up

to 90% ballast. In particular, with selfish DNA distributed throughout the genome as short

(SINE, small interspersed elements) and long elements (LINE, large interspersed ele­

ments, e.g. ALU sequences). Other such elements are transposons and former retroviral

sequences. Other repetitive regions characterize promoters (GC regions). Stabilizing,

structural DNA (around centromeres, at chromosome ends e.g. telomeres etc.) also occu­

pies some space in the chromosome.

­

2017

3.2

3.3  A Profile of the Human Genome