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Valencia, C. Alexander

https://orcid.org/0000-0002-5249-6779

A5103137563 | I1285204247

Mayo Clinic

Cincinnati Children's Hospital Medical Center

Citations 3

PAX1 is essential for development and function of the human thymus

Science Immunology | February 29, 2020 | Volume: 5 | Issue: 44 | Pages: No page available

10.1126/sciimmunol.aax1036 | PMID 32111619

PAX1deficiency causes a syndromic form of SCID by altering differentiation of thymic epithelial cells and other pharyngeal pouch tissues.
Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments

Proceedings of the National Academy of Sciences | January 23, 2019 | Volume: 116 | Issue: 6 | Pages: 1823-1824

10.1073/pnas.1821357116 | PMID 30674682

Biparental Inheritance of Mitochondrial DNA in Humans

Proceedings of the National Academy of Sciences | November 26, 2018 | Volume: 115 | Issue: 51 | Pages: 13039-13044

10.1073/pnas.1810946115 | PMID 30478036

Significance The energy-producing organelle mitochondrion contains its own compact genome, which is separate from the nuclear genome. In nearly all mammals, this mitochondrial genome is inherited exclusively from the mother, and transmission of paternal mitochondria or mitochondrial DNA (mtDNA) has not been convincingly demonstrated in humans. In this paper, we have uncovered multiple instances of biparental inheritance of mtDNA spanning three unrelated multiple generation families, a result confirmed by independent sequencing across multiple unrelated laboratories with different methodologies. Surprisingly, this pattern of inheritance appears to be determined in an autosomal dominantlike manner. This paper profoundly alters a widespread belief about mitochondrial inheritance and potentially opens a novel field in mitochondrial medicine.