Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.

doi:10.1016/j.ajhg.2024.11.007

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Article

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.

American journal of human genetics - 2 Jan 2025

Smith Thomas B, Kopajtich Robert, Demain Leigh A M, Rea Alessandro, Thomas Huw B, Schiff Manuel, Beetz Christian, Joss Shelagh, Conway Gerard S, Shukla Anju, Yeole Mayuri, Radhakrishnan Periyasamy, Azzouz Hatem, Ben Chehida Amel, Elmaleh-Bergès Monique, Glasgow Ruth I C, Thompson Kyle, Oláhová Monika, He Langping, Jenkinson Emma M, Jahic Amir, Belyantseva Inna A, Barzik Melanie, Urquhart Jill E, O'Sullivan James, Williams Simon G, Bhaskar Sanjeev S, Carrera Samantha, Blakes Alexander J M, Banka Siddharth, Yue Wyatt W, Ellingford Jamie M, Houlden Henry, Munro Kevin J, Friedman Thomas B, Taylor Robert W, Prokisch Holger, O'Keefe Raymond T, Newman William G

Abstract excerpt

The mitochondrial ribosome (mitoribosome) synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA, and 82 mitoribosomal proteins encoded by nuclear genes. To date, variants in 12 genes encoding mitoribosomal proteins are associated with rare monogenic disorders and frequently show combined oxidative...

Topics

Humans
Female
Apoptosis
Phenotype
Male
Alleles
Mitochondrial Ribosomes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Fibroblasts

Child, Preschool

Child

Oxidative Phosphorylation

Mitochondria

Mitochondrial Proteins

Mitochondrial Diseases

Infant

Ribosomal Proteins

Ribosome Subunits, Small

Source

Open in PubMed Open full text

Identifiers

PMID: 39701103
DOI: 10.1016/j.ajhg.2024.11.007
PMCID: PMC11739875

Genes

DAP3
MRPS7
MRPS9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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