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Related Concept Videos

Translation01:31

Translation

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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
Proteins are...
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Point and Frameshift Mutations01:30

Point and Frameshift Mutations

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Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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Leaky Scanning02:28

Leaky Scanning

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During most eukaryotic translation processes, the small 40S ribosome subunit scans an mRNA from its 5' end until it encounters the first start AUG codon. The large 60S ribosomal subunit then joins the smaller one to initiate protein synthesis. The location of the translation initiation is largely determined by the nucleotides near the start codon as there may be multiple translation initiation sites present on the mRNA.  Marilyn Kozak discovered that the sequence RCCAUGG (where R...
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Type IV Collagen of Basal Lamina01:05

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Type IV collagen is a 400 nm long, network-forming collagen that acts as a barrier between the epithelial and endothelial cells. Type IV collagen  forms the backbone of the basement membrane by scaffolding with laminin, entactin, proteoglycans, and fibronectin. Apart from rendering structural support to the basement membrane, it also helps entail signaling potentials necessary for both pathological and physiological functions.
A type IV collagen molecule has six alpha chains which can...
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Histone Variants at the Centromere02:30

Histone Variants at the Centromere

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Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
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Pleiotropy01:33

Pleiotropy

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Related Experiment Video

Updated: Sep 4, 2025

Genetic Variant Detection in the CALR gene using High Resolution Melting Analysis
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COL4A4 variant recently identified: lessons learned in variant interpretation-a case report.

Jenelle Cocorpus1, Megan M Hager2, Corinne Benchimol3

  • 1Pediatric Nephrology, Cohen Children's Medical Center of New York, 269-01 76th Avenue, New Hyde Park, NY, 11040, USA.

BMC Nephrology
|July 16, 2022
PubMed
Summary

Alport syndrome, a hereditary kidney disease, is often underdiagnosed. A novel COL4A4 variant suggests autosomal dominant inheritance, highlighting the need for comprehensive genetic testing and family history in diagnosis.

Keywords:
Alport syndromeCOL4A4Case reportGenetic testingVariant interpretations

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Area of Science:

  • Nephrology
  • Genetics
  • Molecular Biology

Background:

  • Alport syndrome is a hereditary kidney disease characterized by hematuria and proteinuria.
  • Autosomal dominant COL4A4 variants are reported but likely underdiagnosed.
  • Increased access to genetic testing aids Alport syndrome diagnosis.

Observation:

  • A Mexican family presented with a novel heterozygous COL4A4 variant (c.5007delC).
  • The proband experienced diagnostic delays, initially suspected of Fabry disease before an Alport syndrome diagnosis.
  • Family testing revealed the variant in three symptomatic individuals and one asymptomatic infant.

Findings:

  • The COL4A4 variant (c.5007delC) is associated with Alport syndrome, exhibiting autosomal dominant inheritance.
  • Variant classification varied across commercial genetic testing laboratories, but consensus identified it as likely pathogenic.
  • Delayed data synthesis occurred due to testing at different laboratories.

Implications:

  • Thorough family history is crucial for accurate variant interpretation in Alport syndrome.
  • Highlights challenges in variant classification and the impact of siloed commercial genetic testing.
  • Emphasizes the utility of early screening, diagnosis, monitoring, and treatment for Alport syndrome.