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Updated: Aug 11, 2025

Author Spotlight: Developing Tools to Tune the Activity of Tyrosine Phosphatases
06:56

Author Spotlight: Developing Tools to Tune the Activity of Tyrosine Phosphatases

Published on: September 6, 2024

443

Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?

Wiljan J A J Hendriks1, Remco T P van Cruchten2, Rafael Pulido3,4

  • 1Department of Cell Biology, Radboud University Medical Centre, Nijmegen, The Netherlands.

Frontiers in Cell and Developmental Biology
|February 9, 2023
PubMed

Insights

Germline variants in protein tyrosine phosphatase genes are linked to various disorders, according to new genome research. Further studies are needed to confirm these associations and map gene-phenotype relationships.

Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Protein tyrosine phosphatases (PTPs) and kinases are crucial for cellular signaling.
  • Genetic alterations in PTPs can significantly impact health and survival.

Purpose of the Study:

  • To review the effects of germline variants in a subset of PTP superfamily genes.
  • To assess the current understanding of genotype-phenotype correlations in PTPs.

Main Methods:

  • Literature review of reported germline variants in PTP genes.
  • Analysis of data from recent genome research tools.

Main Results:

  • Genome research has generated extensive data suggesting associations between specific PTP genes and disorders.
  • These findings often rely on 'guilt by association' due to large-scale data.

Conclusions:

  • The current data implicates numerous PTP genes in various diseases.
  • Future research must rigorously validate these associations to establish definitive genotype-phenotype maps for PTPs.
Keywords:
disease susceptibilitygene mutationhereditable diseasephosphotyrosineposttranslational modificationsignal transductionsingle nucleotide polymorphism

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