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1. 30-40,000 protein coding genes. About twice that of simpler animals. But the
genes allow for alternate slicing arrangements leading to a greater diversity
of proteins.

2. Only 7% of protein domains or regions are unique to vertebrates, the rest of
the vertebrate proteome seems to be due to rearrangements of components found in
invertebrates. Perhaps 15,000 protein coding genes in the human genome arose
through duplication followed by evolutionary divergence.

Worm and Fly genomes have about 50% of genes unique to these groups, much
higher than vertebrates.

3. During vertebrate evolution, a small but significant fraction of genes
appear to have been incorporated from bacterial genomes. 223 coding genes appear
to be significantly similar to bacterial genes though no corresponding genes
are present in the fly or worm genomes. The gene for Monoamine oxidase is a
good example.

4. Mutation rates appear to be twice as high in males during meiosis than in
females.

5. 1.4 million single nucleotide polymorphisms (SNP's) have been identified. These are
potentially useful for populations studies.

6. Only about 5% of the human genome codes for proteins. Repeating sequences
comprise 50% of the genome. Examples of non protein coding regions.

 

A. repeats originating from transposons (45% of repeats)

B. pseudogenes. These are non functioning homologues of transcribed genes.

C. simple repeating regions (e.g. (A)N, (CGG)N

D. genes coding for various types of RNA

Reference:

The Genome Sequencing Consortium. Initial sequencing and analysis of the human
genome, Nature 409, 860-921 (2001).

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