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The inactive X chromosome is silenced by being packaged into a transcriptionally inactive structure called heterochromatin. As nearly all female mammals have two X chromosomes, X-inactivation prevents them from having twice as many X chromosome gene products as males, who only possess a single copy of the X chromosome (see dosage compensation).
Males with Klinefelter syndrome typically have one extra copy of the X chromosome in each cell, for a total of two X chromosomes and one Y chromosome (47,XXY). It is less common for affected males to have two or three extra X chromosomes (48,XXXY or 49,XXXXY) or extra copies of both the X and Y chromosomes (48,XXYY) in each cell.
•List of human protein-coding genes page 2 covers genes EPHA1–MTMR3 •List of human protein-coding genes page 3 covers genes MTMR4–SLC17A7 •List of human protein-coding genes page 4 covers genes SLC17A8–ZZZ3 NB: Each list page contains 5000 human protein-coding genes, sorted alphanumerically by the HGNC-approved gene symbol.
X chromosome reactivation (XCR) is the process by which the inactive X chromosome (the Xi) is re-activated in the cells of eutherian female mammals. Therian female mammalian cells have two X chromosomes, while males have only one, requiring X-chromosome inactivation (XCI) for sex-chromosome dosage compensation. In eutherians, XCI is the random ...
Xist (X-inactive specific transcript) is a non-coding RNA transcribed from the X chromosome of the placental mammals that acts as a major effector of the X-inactivation process. [5] It is a component of the Xic – X-chromosome inactivation centre [ 6 ] – along with two other RNA genes ( Jpx and Ftx ) and two protein genes ( Tsx and Cnbp2 ).
Someone with two X chromosomes (such as the majority of human females) has only one Barr body per somatic cell, while someone with one X chromosome (such as most human males) has none. Mammalian X-chromosome inactivation is initiated from the X inactivation centre or Xic, usually found near the centromere. [6] The center contains twelve genes ...
Pages in category "Genes on human chromosome X" The following 200 pages are in this category, out of approximately 547 total. This list may not reflect recent changes .
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.