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Rates of nucleotide substitution, mutation at a locus, and the "beanbag" gene number in man

Jankovic, Gradimir; Pavlovic, Milorad; Lazarevic, Vladimir LU and Vukomanovic, Djordje (2002) In Journal of Human Genetics 47(4). p.4-202
Abstract

We estimated the number of different human genes by relating the patterns of spontaneous mutation at the population and individual level. A geometric distribution model of mutation was used in which the average rates of nucleotide replacement (P) and mutation at a locus (p), obtained by experiment, were used to determine the estimate of the physical size of the coding genome (n) in man. The probabilistic relation used, P = (1 - p)(n-1)p, integrates two different referential time scales of mutation, that of a nucleotide and year and that of a coding gene and generation. The estimates of n, for different values of P and p, are compatible with the experimentally determined genome sizes. The size of the coding portion of the genome appears... (More)

We estimated the number of different human genes by relating the patterns of spontaneous mutation at the population and individual level. A geometric distribution model of mutation was used in which the average rates of nucleotide replacement (P) and mutation at a locus (p), obtained by experiment, were used to determine the estimate of the physical size of the coding genome (n) in man. The probabilistic relation used, P = (1 - p)(n-1)p, integrates two different referential time scales of mutation, that of a nucleotide and year and that of a coding gene and generation. The estimates of n, for different values of P and p, are compatible with the experimentally determined genome sizes. The size of the coding portion of the genome appears to be evolutionarily constrained by an interplay between the rate of nucleotide replacement and the pattern of mutation at the level of the individual locus. The evolution of the size of the coding genome may be more dependent on the number of generations than on time.

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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Evolution, Molecular, Genome, Human, Humans, Point Mutation
in
Journal of Human Genetics
volume
47
issue
4
pages
3 pages
publisher
Springer
external identifiers
  • Scopus:0036256888
ISSN
1434-5161
DOI
10.1007/s100380200024
language
English
LU publication?
yes
id
21a35d2c-10ed-4e03-9028-4f44b475efd2
date added to LUP
2016-05-24 17:24:06
date last changed
2016-10-13 05:09:24
@misc{21a35d2c-10ed-4e03-9028-4f44b475efd2,
  abstract     = {<p>We estimated the number of different human genes by relating the patterns of spontaneous mutation at the population and individual level. A geometric distribution model of mutation was used in which the average rates of nucleotide replacement (P) and mutation at a locus (p), obtained by experiment, were used to determine the estimate of the physical size of the coding genome (n) in man. The probabilistic relation used, P = (1 - p)(n-1)p, integrates two different referential time scales of mutation, that of a nucleotide and year and that of a coding gene and generation. The estimates of n, for different values of P and p, are compatible with the experimentally determined genome sizes. The size of the coding portion of the genome appears to be evolutionarily constrained by an interplay between the rate of nucleotide replacement and the pattern of mutation at the level of the individual locus. The evolution of the size of the coding genome may be more dependent on the number of generations than on time.</p>},
  author       = {Jankovic, Gradimir and Pavlovic, Milorad and Lazarevic, Vladimir and Vukomanovic, Djordje},
  issn         = {1434-5161},
  keyword      = {Evolution, Molecular,Genome, Human,Humans,Point Mutation},
  language     = {eng},
  number       = {4},
  pages        = {4--202},
  publisher    = {ARRAY(0xa6ef708)},
  series       = {Journal of Human Genetics},
  title        = {Rates of nucleotide substitution, mutation at a locus, and the "beanbag" gene number in man},
  url          = {http://dx.doi.org/10.1007/s100380200024},
  volume       = {47},
  year         = {2002},
}