Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Human Genetics

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...

Pleiotropy

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,...

Epistasis

Epistasis

In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...

Background and Environment Affect Phenotype

Background and Environment Affect Phenotype

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...

Pedigree Analysis

Pedigree Analysis

You might also read

Related Articles

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

Sort by

Same author

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Same author

De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction.

Genome medicine·2026

Same author

Gene Therapy for Amino Acid Decarboxylase Deficiency: Clinical and Imaging Outcomes in a French Cohort.

Movement disorders : official journal of the Movement Disorder Society·2026

Same author

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

European journal of human genetics : EJHG·2026

Same author

Insights from the LysoNeo prospective cohort study to improve newborn screening of lysosomal diseases.

Communications medicine·2026

Same author

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.

Frontiers in genetics·2026

Search research articles

Related Experiment Video

Updated: Jun 12, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

Type I hyperprolinemia: genotype/phenotype correlations.

Audrey Guilmatre¹, Solenn Legallic, Gary Steel

¹Inserm U614, IHU, 76000 Rouen, France.

|June 5, 2010

Summary

This summary is machine-generated.

Type I hyperprolinemia (HPI) is linked to Proline Dehydrogenase gene (PRODH) mutations. This study analyzes PRODH variants, assesses their impact on proline oxidase (POX) activity, and correlates genotypes with enzyme function in HPI patients.

More Related Videos

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

Related Experiment Videos

Last Updated: Jun 12, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

Area of Science:

Genetics
Biochemistry
Human Disease

Background:

Type I hyperprolinemia (HPI) is an autosomal recessive disorder.
HPI is associated with cognitive and psychiatric issues.
Genetic alterations in the Proline Dehydrogenase gene (PRODH) cause HPI by reducing proline oxidase (POX) activity.

Purpose of the Study:

Determine the frequency of PRODH variations in healthy individuals.
Evaluate the functional impact of PRODH mutations on POX enzyme activity.
Establish genotype-enzyme activity correlations in HPI patients.

Main Methods:

Genotyping of PRODH gene variations in controls and HPI patients.
In vitro assessment of proline oxidase (POX) activity for novel mutations and haplotypes.
Analysis of genotype-phenotype correlations based on predicted residual enzyme activity.

Main Results:

Eight of 14 PRODH variants were found at polymorphic frequencies in 114 controls.
Specific mutations (e.g., p.G444D) drastically reduced POX activity, while others (p.P8L, p.[Q19P; A58T]) caused moderate decreases.
Ten out of 19 HPI patients had predicted residual POX activity below 50%.

Conclusions:

PRODH mutations significantly impact proline oxidase (POX) activity, contributing to Type I hyperprolinemia.
Genotype-specific analysis reveals varying degrees of enzyme dysfunction.
The findings suggest that decreased POX activity or other biological alterations due to PRODH mutations cause HPI.