title: On parameters of the human genome.
abstract: There are mathematical constants that describe universal relationship between variables, and physical/chemical constants that are invariant measurements of physical quantities. In a similar spirit, we have collected a set of parameters that characterize the human genome. Some parameters have a constant value for everybody's genome, others vary within a limited range. The following nine human genome parameters are discussed here, number of bases (genome size), number of chromosomes (karyotype), number of protein-coding gene loci, number of transcription factors, guanine-cytosine (GC) content, number of GC-rich gene-rich isochores, density of polymorphic sites, number of newly generated deleterious mutations in one generation, and number of meiotic crossovers. Comparative genomics and theoretical predictions of some parameters are discussed and reviewed. This collection only represents a beginning of compiling a more comprehensive list of human genome parameters, and knowing these parameter values is an important part in understanding human evolution.
authors.affiliation: The Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, North Shore LIJ Health System, Manhasset, 350 Community Drive, NY 11030, USA. wli@nslij-genetics.org
authors.forename: Wentian
authors.initials: W
authors.lastname: Li
mesh_terms: D000818:Animals; D001482:Base Composition; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D005260:Female; D056426:Genetic Loci; D059646:Genome Size; D015894:Genome, Human; D006801:Humans; D032085:Isochores / Q000235:genetics; D059785:Karyotype; D008297:Male; D008540:Meiosis; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics
chemical_list: D032085:Isochores; D014157:Transcription Factors