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So, humans have two sets of 23 chromosomes in each cell that contains a nucleus. One set of 23 chromosomes (n) is from the mother (22 autosomes, 1 sex chromosome (X only)) and one set of 23 chromosomes (n) is from the father (22 autosomes, 1 sex chromosome (X or Y)). Ultimately, this means that humans are diploid (2n) organisms. [2]
An allele [1] (or allelomorph) is a variant of the sequence of nucleotides at a particular location, or locus, on a DNA molecule. [2]Alleles can differ at a single position through single nucleotide polymorphisms (SNP), [3] but they can also have insertions and deletions of up to several thousand base pairs.
[4] [3] The human Y chromosome, consisting of 62,460,029 base pairs from a different cell line and found in all males, was sequenced completely in January 2022. [5] The current version of the standard reference genome is called GRCh38.p14 (July 2023). It consists of 22 autosomes plus one copy of the X chromosome and one copy of the Y chromosome.
Each chromosome carries many genes, with each gene occupying a different position or locus; in humans, the total number of protein-coding genes in a complete haploid set of 23 chromosomes is estimated at 19,000–20,000. [2] Genes may possess multiple variants known as alleles, and an allele may also be said to reside at a particular locus.
Compare sister chromatids to homologous chromosomes, which are the two different copies of a chromosome that diploid organisms (like humans) inherit, one from each parent. Sister chromatids are by and large identical (since they carry the same alleles, also called variants or versions, of genes) because they derive from one original chromosome.
For example, most human cells have 2 of each of the 23 homologous monoploid chromosomes, for a total of 46 chromosomes. A human cell with one extra set of the 23 normal chromosomes (functionally triploid) would be considered euploid. Euploid karyotypes would consequentially be a multiple of the haploid number, which in humans is 23. [citation ...
Each parent passes on one allele to each offspring. An individual gamete inherits a complete haploid complement of alleles on chromosomes that are independently selected from each pair of chromatids lined up on the metaphase plate. Without recombination, all alleles for those genes linked together on the same chromosome would be inherited together.
While haploid organisms have only one copy of each chromosome, most animals and many plants are diploid, containing two of each chromosome and thus two copies of every gene. The two alleles for a gene are located on identical loci of the two homologous chromosomes, each allele inherited from a different parent. [45]