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Related Concept Videos

Alternative RNA Splicing02:18

Alternative RNA Splicing

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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Comparing Copy Number Variations and SNPs02:26

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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RNA Splicing01:32

RNA Splicing

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Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
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Related Experiment Video

Updated: Jan 18, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

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A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder.

Brandon S Stone1,2, Swetha Ramadesikan3, Regan McGinley1

  • 1Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.

American Journal of Medical Genetics. Part A
|June 2, 2025
PubMed
Summary

A novel splicing variant in the GNAS gene was identified in a mother and daughter, causing unique phenotypes. This finding expands the known spectrum of GNAS-related disorders and their genetic underpinnings.

Area of Science:

  • Genetics
  • Molecular Biology
  • Endocrinology

Background:

Keywords:
GNAS inactivationRNA sequencingalternative splicinggenome sequencingmadelung deformitypseudohypoparathyroidism

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  • Pathogenic variants in the GNAS gene are associated with diverse disorders, including pseudohypoparathyroidism and McCune-Albright syndrome.
  • GNAS locus imprinting and parent-of-origin effects influence disease presentation.
  • Loss-of-function variants typically on the maternal allele cause hormonal resistance, obesity, and cognitive issues.