Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

'Progress' renders detrimental an ancient mitochondrial DNA genetic variant.

Human molecular genetics - 1 Nov 2011

Pacheu-Grau David, Gómez-Durán Aurora, López-Gallardo Ester, Pinós Tomàs, Andreu Antoni L, López-Pérez Manuel J, Montoya Julio, Ruiz-Pesini Eduardo

Abstract excerpt

A human mitochondrial DNA (mtDNA) transition, m.1555A>G, in the 12S rRNA gene causes non-syndromic hearing loss. However, this pathological mutation is the wild-type allele in orangutan mtDNA. Here we rule out different genetic factors as the reason for its fixation in orangutans and show that aminoglycosides negatively affect the oxidative phosphorylation function by decreasing the synthesis of mtDNA-encoded...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aminoglycosides
Share to Biological Evolution

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA, Mitochondrial

Share to Nucleic Acid Conformation

Share to Nucleotides

Share to Oxidative Phosphorylation

Share to Ribosomal Proteins

Share to RNA, Ribosomal

Source

Identifiers

PMID: 21828074
DOI: 10.1093/hmg/ddr350

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

'Progress' renders detrimental an ancient mitochondrial DNA genetic variant.PMID 21828074Read ↗

The role of mitochondrial DNA mutations in hearing loss.Semantic proximity Read ↗

Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation.Semantic proximity Read ↗

Are some mutations more equal than others?Semantic proximity Read ↗

Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics.Semantic proximity Read ↗

Evolution and disease converge in the mitochondrion.Semantic proximity Read ↗

Mitochondrial rRNA and tRNA and hearing function.Semantic proximity Read ↗

[Function study of non-syndromic deafness associated mitochondrial 12S rRNA A839G mutation].Semantic proximity Read ↗

[Mitochondrial 12S rRNA variants studies in 456 subjects with hearing loss in seven schools for deaf and mutes in Zhejiang province].Semantic proximity Read ↗

Mitochondrial mutation spectrum in Chordates: damage versus replication signatures, causes, and dynamicsSemantic proximity Read ↗

A reappraisal of complete mtDNA variation in East Asian families with hearing impairment.Semantic proximity Read ↗

Mitochondrial 12S rRNA susceptibility mutations in aminoglycoside-associated and idiopathic bilateral vestibulopathy.Semantic proximity Read ↗

Origins of mtDNA mutations in ageing.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.