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

By Barbara Migeon

Girls will be defined as genetic mosaics simply because they've got quite forms of cells all through their our bodies. not like men, who've one X chromosome, ladies have X chromosomes in each telephone. a lot has been written in regards to the Y chromosome and its function in inducing maleness. this is often the single booklet concerning the X chromosome as a key to lady improvement and the position of X-related components within the etiology of intercourse alterations in human disorder. This new version displays study advances from the six years because the commonly praised first version. New advances comprise wisdom of species transformations in mammalian X inactivation techniques and silencing of the inactive X chromosome.

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To compensate for sex difference in X chromosome dosage, we equalize the amounts of RNA transcripts that are produced by adjustments in the mechanisms that regulate the process of transcription. The nature of this transcriptional regulation has been best studied in three very different groups of organisms: (1) the fruit fly, in particular, Drosophila melanogaster; (2) the nematode Caenorhabditis elegans; and (3) mammals, including marsupials. X Chromosome Dosage Compensation 29 Mechanisms of X Dosage Compensation Involve Transcritional Modulation Males Females Flies Worms Mammals Figure 3-1.

Because there is no homology between chick and human sex chromosomes, each must have evolved independently from a different autosome. That the homologue of the therian X is an autosome in monotremes, but a sex chromosome in marsupials, implies that our X and Y arose in a common ancestor to therian mammals, sometime after diverging from monotremes, but before we diverged from marsupials [17]. Evolution of the Human Sex Chromosomes 15 Figure 2-3. Dr. Susumu Ohno. Photo courtesy of Dr. Michael Schmidt.

Further, because the Y chromosome is subject to continual change and is a rather unstable chromosome, some species have lost their Y-linked, sexdetermining genes and even the Y chromosome. Although flies have a Y chromosome, this small chromosome lacks a sex-determining gene, and instead, flies use the ratio of X chromosomes to autosomes as the primary signal for sexual differentiation. Grasshoppers have lost the Y altogether and have an XX/X sexdetermining mechanism. 2. 2. T H E H U M A N S E X C H R O M O S O M E S E V O LV E D F RO M AV I A N A U T O S O M E S As a consequence of the degradation of the Y chromosome, the human X and Y chromosomes are readily distinguishable; in fact, they in no way resemble each other (figure 2-2).

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