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Females Are Mosaics: X Inactivation and Sex Differences in by Barbara Migeon

By Barbara Migeon

Girls will be defined as genetic mosaics simply because they've got enormously types of cells all through their our bodies. not like men, who've one X chromosome, women have X chromosomes in each phone. a lot has been written concerning the Y chromosome and its position in inducing maleness. this can be the one publication concerning the X chromosome as a key to girl improvement and the function of X-related elements within the etiology of intercourse changes in human sickness. This new version displays study advances from the six years because the commonly praised first variation. New advances contain wisdom of species variations in mammalian X inactivation procedures and silencing of the inactive X chromosome.

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Extra info for Females Are Mosaics: X Inactivation and Sex Differences in Disease

Example text

The X conserved region (XCR) is the original X, containing the X inactivation center (XIC). The X added region (XAR), evolutionary additions to the X chromosome, includes pseudoautosomal region 1 (PAR1). PAR2 is the pseudoautosomal region added most recently, 4–7 million years ago (mya). ) 2 . 5. R E S I D U A L H O M O L O G Y A N D T H E PSEU D O A U T O S O M A L R E G I O N S Only a couple of small regions of our X and Y chromosomes are still able to recombine; these are called pseudoautosomal regions (PAR).

This chromatin has another essential function: to block the expression of genes that should not be expressed—because the time or place (tissue) is not appropriate. To do this, the genes that need blocking are packaged so as to make them inaccessible to the transcriptional machinery of the cell. The packaging is mediated by histone proteins, which are the major proteins in chromatin; they make up the core for the DNA to wrap around, and therefore they provide the physical environment for the genes.

The sex chromosomes are designated X and Y in many species that have them, distinguishing them from the rest of the chromosomes (called autosomes). The X and Y chromosomes usually evolve from a homologous pair of autosomal chromosomes (figure 2-1), after one of them starts to accumulate genes essential for determination of one sex or the other. To keep these genes from recombining during meiosis, one of the pair of autosomes has to be modified so that it no longer exchanges the relevant genetic content 1.

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