Regional and time-resolved mutation patterns of the human genome.
BACKGROUND
Substantial regional variations of substitutional processes have recently been reported from human/mouse comparisons. However, several features including the C + G dependence and the CpG-based transition effect remain obscure.


RESULTS
Utilizing the vast amount of transposable elements in the human genome, we performed detailed analysis of the substitutional and insertion/deletion patterns along the human lineage in a regional and time-resolved fashion. We observed a drastic increase in the CpG-based transition frequency at about the time of the mammalian radiation. We also observed clear regional biases of substitution patterns, most notably a bias to enrich the C+G content toward the telomeres.


BACKGROUND
The programs used are available upon request from the authors.
Arndt
Peter F
PF
Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. peter.arndt@molgen.mpg.de
Hwa
Terence
T
D000465:Algorithms; D002874:Chromosome Mapping / Q000379:methods*; D018899:CpG Islands / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D019143:Evolution, Molecular; D017353:Gene Deletion; D005787:Gene Frequency; D015894:Genome, Human; D006801:Humans; D016254:Mutagenesis, Insertional; D010802:Phylogeny; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA / Q000379:methods*