Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes.
| Autoři: | Blok RB; Murdoch Institute, Royal Children's Hospital, Melbourne, Victoria, Australia., Gook DA, Thorburn DR, Dahl HH |
|---|---|
| Zdroj: | American journal of human genetics [Am J Hum Genet] 1997 Jun; Vol. 60 (6), pp. 1495-501. |
| Způsob vydávání: | Journal Article; Research Support, Non-U.S. Gov't |
| Jazyk: | English |
| Informace o časopise: | Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE |
| Imprint Name(s): | Publication: 2008- : [Cambridge, MA] : Cell Press Original Publication: Baltimore, American Society of Human Genetics. |
| Výrazy ze slovníku MeSH: | Models, Genetic* , Point Mutation*, DNA, Mitochondrial/*genetics , Oocytes/*physiology, Cryopreservation ; DNA, Mitochondrial/biosynthesis ; DNA, Mitochondrial/blood ; Female ; Gene Amplification ; Genomic Imprinting ; Humans ; Male ; Mitochondria/metabolism ; Oocytes/cytology ; Oogenesis ; Pedigree ; Polymerase Chain Reaction |
| Abstrakt: | Rapid changes in mtDNA variants between generations have led to the bottleneck theory, which proposes a dramatic reduction in mtDNA numbers during early oogenesis. We studied oocytes from a woman with heteroplasmic expression of the mtDNA nt 8993 (T-->G) mutation. Of seven oocytes analyzed, one showed no evidence of the mutation, and the remaining six had a mutant load > 95%. This skewed expression of the mutation in oocytes is not compatible with the conventional bottleneck theory. A possible explanation is that, during amplification of mtDNA in the developing oocyte, mtDNA from one mitochondrion is preferentially amplified. Thus, subsequent mature oocytes may contain predominantly wild-type or mutant mitochondrial genomes. |
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| Substance Nomenclature: | 0 (DNA, Mitochondrial) |
| Entry Date(s): | Date Created: 19970601 Date Completed: 19970710 Latest Revision: 20200824 |
| Update Code: | 20240829 |
| PubMed Central ID: | PMC1716104 |
| DOI: | 10.1086/515453 |
| PMID: | 9199572 |
| Autor: | Blok RB; Murdoch Institute, Royal Children's Hospital, Melbourne, Victoria, Australia., Gook DA, Thorburn DR, Dahl HH |
| Jazyk: | angličtina |
| Zdroj: | American journal of human genetics [Am J Hum Genet] 1997 Jun; Vol. 60 (6), pp. 1495-501. |
| DOI: | 10.1086/515453 |
| Abstrakt: | Rapid changes in mtDNA variants between generations have led to the bottleneck theory, which proposes a dramatic reduction in mtDNA numbers during early oogenesis. We studied oocytes from a woman with heteroplasmic expression of the mtDNA nt 8993 (T-->G) mutation. Of seven oocytes analyzed, one showed no evidence of the mutation, and the remaining six had a mutant load > 95%. This skewed expression of the mutation in oocytes is not compatible with the conventional bottleneck theory. A possible explanation is that, during amplification of mtDNA in the developing oocyte, mtDNA from one mitochondrion is preferentially amplified. Thus, subsequent mature oocytes may contain predominantly wild-type or mutant mitochondrial genomes. |
| Databáze: | MEDLINE |
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