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Early in development all cells in female embryos inactivate most genes on one of the two X chromosomes.
In women, most genes on one X chromosome are not expressed due to X chromosome inactivation [ 38].
X-chromosome inactivation (XCI) results in the silencing of most genes on one X chromosome, yielding mono-allelic expression in individual female cells; while random XCI results in the expression of both alleles in most females [ 13].
Sex chromosome dosage differences between male and female mammals are compensated by epigenetic silencing of most genes on one of the two X chromosomes in females to ensure similar transcript levels in both sexes (for reviews see Heard [ 1], Payer and Lee [ 2] and Pontier and Gribnau [ 3]).
An RNA gene is responsible for the vital task of shutting all the genes on one of the two X chromosomes in each female cell, ensuring that women get the same dose of X-based genes as men, who have just one X chromosome.
The traditional strategy of CBP is the use of genetically engineered microorganisms focusing on all the required functional genes on one strain.
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(Since women have two X chromosomes, a defective color vision gene on one will usually be compensated for by a good gene on the other).
This means that if a bad HPRT gene on one X chromosome is paired with a normal gene on the other X chromosome the disease does not develop.
Women have two copies of the X chromosome, so a healthy version of the gene on one chromosome can largely make up for any defects on the other.
Because humans and mice have inherited much the same overall set of genes from their common ancestor, finding a new gene on one species now often leads to the discovery of its counterpart gene on the other.
Rett syndrome is predominately caused by mutations of the MECP2 gene on one allele (1).
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com