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

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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; Vukomanovic, Djordje.

In: Journal of Human Genetics, Vol. 47, No. 4, 2002, p. 202-4.

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Jankovic, Gradimir ; Pavlovic, Milorad ; Lazarevic, Vladimir ; Vukomanovic, Djordje. / Rates of nucleotide substitution, mutation at a locus, and the "beanbag" gene number in man. In: Journal of Human Genetics. 2002 ; Vol. 47, No. 4. pp. 202-4.

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TY - JOUR

T1 - Rates of nucleotide substitution, mutation at a locus, and the "beanbag" gene number in man

AU - Jankovic, Gradimir

AU - Pavlovic, Milorad

AU - Lazarevic, Vladimir

AU - Vukomanovic, Djordje

PY - 2002

Y1 - 2002

N2 - 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.

AB - 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.

KW - Evolution, Molecular

KW - Genome, Human

KW - Humans

KW - Point Mutation

U2 - 10.1007/s100380200024

DO - 10.1007/s100380200024

M3 - Article

VL - 47

SP - 202

EP - 204

JO - Japanese Journal of Human Genetics

JF - Japanese Journal of Human Genetics

SN - 1434-5161

IS - 4

ER -