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Related Concept Videos

Exon Recombination02:32

Exon Recombination

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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. 
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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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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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Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
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Alternative RNA Splicing02:18

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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.
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Human blood is classified into different types based on the presence of antigens on the red blood cell's surface and antibodies in the plasma. Proper identification of blood type is essential for successful blood transfusion. The International Society of Blood Transfusion has identified 38 human blood types based on the surface antigens on the red blood cells. The most common types are ABO, Rh, and MNS blood types.
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Related Experiment Video

Updated: Jul 5, 2025

Investigation of the Transcriptional Role of a RUNX1 Intronic Silencer by CRISPR/Cas9 Ribonucleoprotein in Acute Myeloid Leukemia Cells
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Novel regulatory variant in ABO intronic RUNX1 binding site inducing A3 phenotype.

Gian Andri Thun1, Morgan Gueuning1, Sonja Sigurdardottir2

  • 1Department of Research and Development, Blood Transfusion Service Zurich, Swiss Red Cross, Schlieren, Switzerland.

Vox Sanguinis
|January 16, 2024
PubMed
Summary

A novel regulatory variant in the ABO gene was discovered using nanopore sequencing, explaining a rare A3B blood type. This finding advances understanding of cryptic ABO phenotypes and highlights sequencing

Keywords:
A3 phenotypeABO blood groupOxford nanopore sequencingRUNX1 transcription factorregulatory variant

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Area of Science:

  • Genetics and Genomics
  • Blood Group Serology
  • Molecular Diagnostics

Background:

  • Mixed-field agglutination in ABO blood typing (A3, B3) can result from chimerism or rare ABO gene variants.
  • Resolving these complex cases requires high-resolution sequencing to analyze full-gene haplotypes.

Purpose of the Study:

  • To investigate the genetic basis of a rare A3B blood type presenting with mixed-field agglutination.
  • To evaluate the utility of long-read sequencing for high-resolution ABO gene analysis.

Main Methods:

  • Whole ABO gene sequencing using Oxford Nanopore Technologies' long-read sequencing.
  • Amplification of the ABO gene via two overlapping long-range PCR fragments.
  • Confirmation analysis using Sanger sequencing on donor and family member samples.

Main Results:

  • Identification of a novel heterozygous g.10924C>A variant in the ABO*A allele within an intron 1 RUNX1 transcription factor binding site.
  • Demonstration of the variant's inheritance from the donor's mother, who also exhibited anti-A specific mixed-field agglutination.

Conclusions:

  • A new regulatory variant in the ABO gene's RUNX1 motif has been identified, contributing to A3/B3 phenotypes.
  • Long-range PCR coupled with nanopore sequencing is a powerful strategy for resolving cryptic ABO phenotypes.