Term
Silencing in X-chromosome inactivation |
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Definition
Entire X chromosome in the female |
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Term
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Definition
A few hundred individual genes (at most) on different chromosomes |
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Term
Choice of target X-chromosome inactivation |
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Definition
Random choice of either X chromosome |
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Term
Choice of target imprinting |
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Definition
Programmed silencing of male or female-specific alleles |
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Term
Silencing initiated X-chromosome inactivation |
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Definition
32-64 cell stage in the embryo |
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Term
Silencing inactivation imprinting |
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Definition
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Term
Persistence of silencing X-chromosome inactivation |
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Definition
In the zygote onward (non-mosaic) |
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Term
Erasure of epigenetic marks (in the next generation) X-chromosome inactivation |
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Definition
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Term
Erasure of epigenetic marks (in the next generation) imprinting |
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Definition
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Term
Mechanisms of silencing X-chromosome inactivation |
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Definition
Competition between XIST and TSIX RNAs |
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Term
Mechanism of silencing imprinting |
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Definition
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Term
Diseases associated with failure to silence X-chromosome inactivation |
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Definition
Ovarian and breast cancer |
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Term
Diseases associated with failure to silence imprinting |
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Definition
Angleman and Prader-Willi syndromes, cancer |
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Term
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Definition
the production, by one particular mutant gene, of apparently unrelated multiple effects at the phenotypic level |
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Term
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Definition
More than 1 gene specifying a given phenotype |
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Term
Incomplete (semi-) dominance changes the 3:1 monohybrid ratio to |
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Definition
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Term
Incomplete dominance is characterized by |
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Definition
1/2 of the progeny exhibiting a phenotype intermediate to the phenotypes expressed by the two parents |
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Term
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Definition
alleles are not mutually related in terms of dominance recessivity. Instead, their gene products occur independently, and both are manifest phenotypically. |
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Term
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Definition
Can be either dominant or recessive and they modify the monohybrid ratios and phenotypic classes |
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Term
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Definition
the frequency (in percent) with which a (dominant or homozygous recessive) gene or gene combination manifests itself in the phenotype of the carriers |
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Term
Penetrance is complete when |
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Definition
All homozygous recessives show one phenotype, all homozygous dominants show another phenotype, and all the heterozygotes are alike. |
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Term
For disease genes: What percent of penetrance in an autosomal dominant disorder needs to be considered for a mutation to be responsible? |
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Definition
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Term
For disease genes: If a mutation responsible for an autosomal dominant disorder has 90% penetrance, then? |
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Definition
90% of the people with the mutation will develop the disease while the other 10% will not. |
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Term
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Definition
the degree of expression of a gene or mutation |
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Term
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Definition
the production of a wild-type phenotype when two haploid genomes bearing different recessive mutations are united in the same cell |
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Term
Complementation analysis is |
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Definition
the determination of whether cells with the same phenotype have the same genotype |
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Term
Another way to define complementation is |
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Definition
when two independently derived recessive mutant alleles producing similar phenotypes fail to complement, the alleles are of the same gene |
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Term
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Definition
the members of such a group fail to complement one another, and they functionally define a "gene" |
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