Unknown

Dataset Information

0

Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci.

ABSTRACT: The two alleles of a gene can be expressed at different levels, the extreme example being imprinting, a condition in which one allele is totally suppressed. Recently, subtle differences in the expression of the two alleles have been detected in numerous human genes and in a few cases, have been associated with a genetic predisposition to disease. The underlying mechanisms are largely unexplored.

SUBMITTER: de la Chapelle A 

PROVIDER: S-EPMC4348697 | biostudies-literature | 2009 Sep

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci.

de la Chapelle A A  

Oncogene 20090713 38

The two alleles of a gene can be expressed at different levels, the extreme example being imprinting, a condition in which one allele is totally suppressed. Recently, subtle differences in the expression of the two alleles have been detected in numerous human genes and in a few cases, have been associated with a genetic predisposition to disease. The underlying mechanisms are largely unexplored. ...[more]

Similar Datasets

Unknown Predisposition of genetic disease by modestly decreased expression of GCH1 mutant allele.
| S-EPMC2679294 | biostudies-literature
Unknown Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci.
| S-EPMC3045878 | biostudies-literature
Unknown Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci.
| S-EPMC6198826 | biostudies-literature
Unknown Genetic linkage of IgA deficiency to the major histocompatibility complex: evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition.
| S-EPMC1377834 | biostudies-other
Unknown Heritability of cellular radiosensitivity: a marker of low-penetrance predisposition genes in breast cancer?
| S-EPMC1377987 | biostudies-other
Transcriptomics Transcription profiling of blood from human pituitary adenoma predisposition (PAP) patients to characterize the genetic basis of low penetrance tumor susceptibility
2007-11-11 | E-GEOD-4488 | biostudies-arrayexpress
Unknown Validating discovered Cis-acting regulatory genetic variants: application of an allele specific expression approach to HapMap populations.
| S-EPMC2605564 | biostudies-literature
Unknown Efficient and allele-specific genome editing of disease loci in human iPSCs.
| S-EPMC4351458 | biostudies-literature
Unknown Association of eleven common, low-penetrance colorectal cancer susceptibility genetic variants at six risk loci with clinical outcome.
| S-EPMC3407042 | biostudies-literature
Unknown Allele-specific expression reveals interactions between genetic variation and environment.
| S-EPMC5501199 | biostudies-literature