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Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Human molecular genetics - 10 Aug 2026

Wynne Meghan, Zlatic Stephanie A, Park Austin S, Crocker Amanda, Mendez-Vazquez Hadassah, Liporace Eliana, Gokhale Avanti, Tower-Gilchrist Cristy, Robinette Maxine, Purcell Ryan H, Bassell Gary J, Werner Erica, Kwong Jennifer Q, Faundez Victor

Abstract excerpt

Genomic copy number variations, such as the 22q11.2 microdeletion syndrome, cause pleiotropic disorders that affect diverse organ systems and disrupt neurodevelopment. Deletions of the 22q11.2 locus reduce the dosage of up to 46 protein coding genes, raising questions about the identity of haploinsufficient genes and their genetic interactions contributing to 22q11.2 phenotypes. Here, we dissect functional and...

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Share to Chromosomes, Human, Pair 22
Share to DiGeorge Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Genes, Mitochondrial

Share to Haploinsufficiency

Share to Mitochondria

Share to Mitochondrial Proteins

Share to Ribosomal Proteins

Source

Identifiers

PMID: 42574252
DOI: 10.1093/hmg/ddag073

Genes

MRPL40
SLC25A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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