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The human genome is a complete set of nucleic acid sequences for humansencoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. These are usually treated separately as the nuclear genome, and the mitochondrial genome.

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Haploid human genomes, which are contained in germ cells the egg and sperm gamete cells created in the meiosis phase of sexual reproduction before fertilization creates a zygote consist of three billion DNA base pairswhile diploid genomes found in somatic cells have twice the DNA content. While there are significant differences among the genomes go here human individuals on the order of 0.

The first human genome sequences were published in nearly complete draft form in February by the Human Genome Project [7] and Celera Corporation. Such genomic studies have led to advances in the diagnosis and treatment of diseases, and to new insights in many fields of biology, including human evolution.

Although the sequence of the human genome has been almost completely determined by DNA sequencing, it is not yet fully understood.

Most though probably not all genes have been identified by a combination of high throughput experimental and bioinformatics approaches, yet much work still needs to be done to further elucidate the biological functions of their protein and RNA products. Recent Discovvering suggest that most of the vast quantities of noncoding DNA within the genome have associated biochemical activities, including regulation of gene expressionorganization of chromosome architectureand signals controlling epigenetic inheritance.

Prior to the acquisition of the full genome sequence, estimates of the number of human genes ranged from 50, towith occasional vagueness about whether these estimates included non-protein coding genes. The total length of the human genome is over 3 billion base pairs.

The genome is organized into 22 paired chromosomes, termed autosomesplus the 23rd pair of sex chromosomes XX in the female, and XY in the male. These are all large linear DNA molecules contained within the cell nucleus.

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The genome also includes the mitochondrial DNAa comparatively small circular molecule present in each mitochondrion. Basic information about these molecules and their gene content, based on a reference genome that does not represent the sequence of any specific individual, are provided in the following table. Table 1 above summarizes the physical organization and gene content of the human reference genomewith links to the original analysis, as published in the Ensembl database at the European Bioinformatics Institute EBI and Wellcome Trust Sanger Institute.

Chromosome lengths were estimated by multiplying the number of base pairs by 0.

eLife digest

A recent estimation of human chromosome lengths based on updated data reports The number of genes in the human genome is not entirely clear because the function of numerous transcripts remains unclear. This is especially true for non-coding RNA see below. The number of protein-coding genes is better known but there are still on the order of 1, questionable genes which may or may not encode functional proteins, usually encoded by short open reading frames. Table 2 gives estimates from various Discoveding and shows these discrepancies.]