Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

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.
RNA Splicing01:32

RNA Splicing

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...
Pleiotropy01:33

Pleiotropy

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,...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Chemical characterization, antioxidant and photoprotective activity of extracts from Mimosa setosa Benth var. paludosa (Fabaceae).

Brazilian journal of biology = Revista brasleira de biologia·2026
Same author

Fluoride mobilization from weathering of micas in streambed sediments of granitic terrains: insights from leaching experiments and surface XPS analysis.

The Science of the total environment·2025
Same author

X-chromosomal STRs: Metapopulations and mutation rates.

Forensic science international. Genetics·2025
Same author

Understanding arsenic-ulexite interactions in evaporite environments: Evidence from XRPD, micro-XRF, micro-FT-IR, and XPS studies.

Journal of hazardous materials·2024
Same author

Maternal separation differentially modulates early pathology by sex in 5xFAD Alzheimer's disease-transgenic mice.

Brain, behavior, & immunity - health·2023
Same author

Early-life stress elicits peripheral and brain immune activation differently in wild type and 5xFAD mice in a sex-specific manner.

Journal of neuroinflammation·2022
Same journal

LncRNA EGOT inhibits the proliferation of lung adenocarcinoma cells and is associated with poor prognosis.

Nucleosides, nucleotides & nucleic acids·2026
Same journal

Can the combination of 5-fluorouracil and gemcitabine increase the treatment efficacy of pancreatic and colon cancer?

Nucleosides, nucleotides & nucleic acids·2026
Same journal

"Aptamer-guided therapeutics and diagnostics for metabolic syndrome: Design, delivery, and translation of aptamer-based systems".

Nucleosides, nucleotides & nucleic acids·2026
Same journal

The impact of vitamin B12 deficiency on urinary profile of <i>de novo</i> purine synthesis intermediates: consequences of the methylfolate trap.

Nucleosides, nucleotides & nucleic acids·2026
Same journal

Evaluation of MTH1 and DCTPP1 inhibitors in fluorocyclopentenylcytosine (RX-3117) resistant lung cancer cells and potential cross resistance patterns.

Nucleosides, nucleotides & nucleic acids·2026
Same journal

Circular RNAs: promising biomarkers for diagnosis, prognosis and therapy in oral squamous cell carcinoma.

Nucleosides, nucleotides & nucleic acids·2026
See all related articles

Related Experiment Video

Updated: Jun 12, 2026

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast
07:31

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast

Published on: June 30, 2022

Partial HPRT deficiency phenotype and incomplete splicing mutation.

R J Torres1, M G Garcia, J G Puig

  • 1Divisions of Clinical Biochemistry and Internal Medicine, La Paz University Hospital, Madrid, Spain. rtorres.hulp@salud.madrid.org

Nucleosides, Nucleotides & Nucleic Acids
|June 15, 2010
PubMed
Summary
This summary is machine-generated.

Partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency in a patient with cerebral palsy was linked to a splice mutation. A minor amount of normal HPRT mRNA did not correlate with the patient's milder phenotype.

More Related Videos

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
08:53

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

Published on: September 15, 2021

Related Experiment Videos

Last Updated: Jun 12, 2026

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast
07:31

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast

Published on: June 30, 2022

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
08:53

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

Published on: September 15, 2021

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is an inborn error of purine metabolism.
  • It causes uric acid overproduction and neurological issues, ranging from mild to severe Lesch-Nyhan syndrome (LNS).
  • Mutations in the HPRT1 gene are responsible for HPRT deficiency, with over 300 documented mutations.

Observation:

  • A 16-year-old male presented with hyperuricemia and a diagnosis of dystonic cerebral palsy.
  • He exhibited a partial HPRT deficiency due to an HPRT1 splice mutation (c.552 -2 A > G) causing exon 5 exclusion.
  • This patient did not display the self-injurious behavior typical of LNS.

Findings:

  • Analysis revealed a minor amount of normally spliced HPRT mRNA in the patient.
  • This finding was also observed in control subjects and two LNS patients with different splice mutations.
  • No correlation was found between the percentage of normally spliced HPRT mRNA and the clinical phenotype.

Implications:

  • The presence of minor amounts of normal HPRT mRNA does not fully explain the partial HPRT deficiency phenotype.
  • Phenotypic variability may be influenced by tissue-specific expression levels of normally spliced HPRT mRNA.
  • Further research is needed to understand the genotype-phenotype correlation in HPRT deficiency.