Possibilities Of Recombination Or Paternal Leakage

Several years ago three papers were published suggesting the possibility of recombination in mtDNA or inheritance from the paternal rather than the maternal line (Hagelberg et al. 1999, Eyre-Walker et al. 1999, Awadalla et al.

1999). Paternal inheritance of mtDNA has been reported in mice (Gyllensten et al. 1991). The Hagelberg and Eyre-Walker papers created quite a stir in the mtDNA forensic and population genetic circles (Macaulay et al. 1999, Parsons and Irwin 2000, Kivisild and Villems 2000, Jorde and Bamshad 2000, Kumar et al.

2000). Hagelberg and co-workers later retracted their paper due to problems with the data (Hagelberg et al. 2000). Since there really appears to be no direct evidence to support either recombination within or between mtGenomes, this issue has been laid to rest for most scientists in the field (see Ingman et al. 2000, Elson et al. 2001, Wiuf 2001, Herrnstadt et al. 2002).

However, there has been a single report recently published of the transmission of a paternal human mtDNA type in skeletal muscle (Schwartz and Vissing 2002). This paternal haplotype was not found in any other tissues though. Several additional studies with individuals having a similar muscle disease failed to find any evidence of paternal transmission of mtDNA (Johns 2003, Filosto et al. 2003, Taylor et al. 2003). With tens of thousands of mtDNA samples demonstrating maternal inheritance over the past three decades (see Giles et al. 1980), it is safe to conclude that the central dogma of maternal inheritance for mtDNA is here to stay.

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