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Schematic karyogram of a human, showing the sex chromosomes in green box at bottom right. The X chromosome is part of chromosome group C, and the Y chromosome is part of group G. Bands and sub-bands are annotated to the right of each chromosome (or chromosome pair), and the gene for the sex-determining region Y protein is located at Yp11.2.
The human Y chromosome showing the SRY gene which codes for a protein regulating sexual differentiation. Sexual differentiation in humans is the process of development of sex differences in humans . It is defined as the development of phenotypic structures consequent to the action of hormones produced following gonadal determination. [ 1 ]
The first complete telomere-to-telomere sequence of a human autosomal chromosome, chromosome 8, followed a year later. [72] The complete human genome (without Y chromosome) was published in 2021, while with Y chromosome in January 2022. [3] [4] [73] In 2023, a draft human pangenome reference was published. [8]
It shows 22 homologous autosomal chromosome pairs, both the female (XX) and male (XY) versions of the two sex chromosomes, as well as the mitochondrial genome (at bottom left). In genetics, a chromosomal rearrangement is a mutation that is a type of chromosome abnormality involving a change in the structure of the native chromosome. [1]
In humans, the presence of the Y chromosome is responsible for triggering male development; in the absence of the Y chromosome, the fetus will undergo female development, except with various exceptions such as individuals with Swyer syndrome, that have XY chromosomes and a female phenotype, and de la Chapelle Syndrome, that have XX chromosomes ...
Sex chromosome anomalies belong to a group of genetic conditions that are caused or affected by the loss, damage or addition of one or both sex chromosomes (also called gonosomes). In humans this may refer to: 45, X, also known as Turner syndrome; 45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis; 46, XX/XY
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]
Ploidy (/ ˈ p l ɔɪ d i /) is the number of complete sets of chromosomes in a cell, and hence the number of possible alleles for autosomal and pseudoautosomal genes. Here sets of chromosomes refers to the number of maternal and paternal chromosome copies, respectively, in each homologous chromosome pair—the form in which chromosomes ...