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Related Concept Videos

Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Alternative RNA Splicing02:18

Alternative RNA Splicing

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...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Hypothyroidism II: Pathophysiology01:23

Hypothyroidism II: Pathophysiology

Hypothyroidism is a disorder characterized by insufficient production of thyroid hormones, which regulate metabolism, energy balance, and multiple organ systems.TypesHypothyroidism is classified based on the level of dysfunction. Primary hypothyroidism results from intrinsic thyroid gland dysfunction, causing reduced hormone production despite normal or increased stimulation. Secondary hypothyroidism arises from inadequate thyroid-stimulating hormone (TSH) secretion by the pituitary. Tertiary...

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the

Joachim Pohlenz1, Alexandra Dumitrescu, Ulrich Aumann

  • 1Children's Hospital, Johannes Gutenberg University of Mainz, D-55101 Mainz, Germany.

The Journal of Clinical Endocrinology and Metabolism
|January 15, 2002
PubMed
Summary

A rare genetic mutation in the TSHbeta gene causes isolated TSH deficiency, leading to congenital hypothyroidism. This study identifies a novel splice site mutation and its mechanism in a young patient.

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Area of Science:

  • Genetics
  • Endocrinology
  • Molecular Biology

Background:

  • Congenital hypothyroidism (CH) can result from isolated thyroid-stimulating hormone (TSH) deficiency, a rare condition.
  • Mutations in the TSHbeta gene are infrequently identified as a cause of CH, with only four previously reported.
  • TSH is crucial for thyroid hormone production and overall development.

Observation:

  • A 4-month-old girl with isolated TSH deficiency, born to consanguineous parents, was investigated.
  • Genetic sequencing revealed a homozygous mutation at the intron 2 donor splice site of the TSHbeta-subunit gene.
  • Analysis using an in vitro exon-trapping system demonstrated that the mutation causes exon 2 skipping.

Findings:

  • The identified TSHbeta gene mutation leads to exon 2 skipping during transcription.
  • This splicing defect results in a severely truncated peptide, likely non-functional.
  • A polymorphic variant (SigP A14T) was identified in family members but deemed functionally inconsequential.

Implications:

  • This research expands the known spectrum of TSHbeta gene mutations causing congenital hypothyroidism.
  • Understanding the molecular mechanism of TSH deficiency is vital for accurate diagnosis and potential future therapies.
  • The findings highlight the importance of genetic analysis in diagnosing rare endocrine disorders.