Ra. Kittles et al., Autosomal, mitochondrial, and Y chromosome DNA variation in Finland: Evidence for a male-specific bottleneck, AM J P ANTH, 108(4), 1999, pp. 381-399
The high prevalence of rare genetic diseases in Finland has been attributed
to a founder effect some 2,000 years ago. However, this hypothesis has not
been supported from mtDNA sequence and autosomal microsatellite data which
indicate high levels of gene diversity. Here we have identified genetic ev
idence for a population bottleneck by examining variable microsatellite loc
i on the nonrecombining portion of Y chromosomes from Finland and four popu
lations from Europe and the Americas. Sequence data from segment I of the c
ontrol region (HVS-1) of mtDNA (360 bases) and 20 autosomal dinucleotide re
peat markers were also analyzed. Partitions of genetic variance within and
between populations revealed significant levels of Y-chromosome differentia
tion between populations. Phylogenetic and diversity analyses revealed dive
rgent Finnish Y-haplotype clades and significantly lower Y-haplotype divers
ity among Finns as compared to other populations. Surprisingly, Finnish Y-h
aplotype diversity was even lower than the Native American populations, The
se results provide support for the Finnish bottleneck hypothesis. Evidence
for two separate founding Finnish Y-chromosome lineages was also observed f
rom the Y-chromosome phylogeny, A limited number of closely related foundin
g males may have contributed to the low number of paternal lineages in the
Finnish population. In contrast, high levels of genetic diversity for mtDNA
and autosomal STRs may be the result of sex-biased gene flow and recent im
migration to urban areas from established internal isolates within Finland.
Published 1999 Wiley-Liss, Inc.