{rfName}

Indexed in

License and use

Citations

45

Altmetrics

Analysis of institutional authors

Podlesniy PAuthorPuigròs MAuthorCalderón áAuthorTrullas RAuthor

Share

Publications
>
Article

Molecular basis for maternal inheritance of human mitochondrial DNA

Publicated to:Nature Genetics. 55 (10): 1632-1639 - 2023-01-01 55(10), DOI: 10.1038/s41588-023-01505-9

Authors: Lee W; Zamudio-Ochoa A; Buchel G; Podlesniy P; Marti Gutierrez N; Puigròs M; Calderon A; Tang HY; Li L; Mikhalchenko A; Koski A; Trullas R; Mitalipov S; Temiakov D

Affiliations

Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University, Portland, OR, USA. - Author
Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA, USA. - Author
Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA, USA. dmitry.temiakov@jefferson.edu. - Author
Department of Pathology and Genomic Medicine, Thomas Jefferson University, Philadelphia, PA, USA. - Author
Molecular & Cellular Oncogenesis Program, The Wistar Institute, Philadelphia, PA, USA. - Author
Neurobiology Unit, Institut d'Investigacions Biomèdiques de Barcelona (IIBB-CSIC-IDIBAPS) and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain. - Author
See more

Abstract

Uniparental inheritance of mitochondrial DNA (mtDNA) is an evolutionary trait found in nearly all eukaryotes. In many species, including humans, the sperm mitochondria are introduced to the oocyte during fertilization1,2. The mechanisms hypothesized to prevent paternal mtDNA transmission include ubiquitination of the sperm mitochondria and mitophagy3,4. However, the causative mechanisms of paternal mtDNA elimination have not been defined5,6. We found that mitochondria in human spermatozoa are devoid of intact mtDNA and lack mitochondrial transcription factor A (TFAM)—the major nucleoid protein required to protect, maintain and transcribe mtDNA. During spermatogenesis, sperm cells express an isoform of TFAM, which retains the mitochondrial presequence, ordinarily removed upon mitochondrial import. Phosphorylation of this presequence prevents mitochondrial import and directs TFAM to the spermatozoon nucleus. TFAM relocalization from the mitochondria of spermatogonia to the spermatozoa nucleus directly correlates with the elimination of mtDNA, thereby explaining maternal inheritance in this species. © 2023, The Author(s), under exclusive licence to Springer Nature America, Inc.

Keywords

AcrosomeAlternative rna splicingAmino terminal sequenceAmpliconArticleBasement membraneBinding proteinConfocal microscopyCytochrome bDna degradationDna, mitochondrialDroplet digital polymerase chain reactionElectron microscopyGeneGeneticsHek293 cell lineHela cell lineHumanHuman cellHuman tissueHumansMaleMaternal inheritanceMetabolismMitochondriaMitochondrial dnaMitochondrial geneMitochondrial proteinMitochondrial proteinsMitochondrial transcription factor aMitochondrionNorthern blottingPhosphorylationReduced nicotinamide adenine dinucleotide dehydrogenaseSemenSeminiferous tubuleSpermSpermatocyteSpermatogenesisSpermatogoniumSpermatozoaSpermatozoonSpermatozoon maturationTata boxTestis tissueWestern blotting

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Nature Genetics due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2023, it was in position 2/191, thus managing to position itself as a Q1 (Primer Cuartil), in the category Genetics & Heredity. Notably, the journal is positioned above the 90th percentile.

From a relative perspective, and based on the normalized impact indicator calculated from World Citations from Scopus Elsevier, it yields a value for the Field-Weighted Citation Impact from the Scopus agency: 7.1, which indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: ESI Nov 14, 2024)

This information is reinforced by other indicators of the same type, which, although dynamic over time and dependent on the set of average global citations at the time of their calculation, consistently position the work at some point among the top 50% most cited in its field:

  • Field Citation Ratio (FCR) from Dimensions: 19.91 (source consulted: Dimensions Jun 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-06-14, the following number of citations:

  • Scopus: 44
  • Europe PMC: 1
  • OpenCitations: 26

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-06-14:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 152.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 152 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 361.11.
  • The number of mentions on the social network X (formerly Twitter): 172 (Altmetric).
  • The number of mentions on Wikipedia: 3 (Altmetric).
  • The number of mentions in news outlets: 29 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.

Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: United States of America.