PMID- 16184404
OWN - NLM
STAT- MEDLINE
DCOM- 20060330
LR  - 20221207
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 118
IP  - 2
DP  - 2005 Nov
TI  - Genetic variability in a genomic region with long-range linkage disequilibrium 
      reveals traces of a bottleneck in the history of the European population.
PG  - 276-86
AB  - The inference of the demographic history of populations from genetic variability 
      data is not only of academic interest. It also provides background information 
      for the identification of genes which may have played a role in human evolution 
      or in the aetiology of human disease. To obtain a clear picture of this 
      background, it is necessary to compare data obtained from a number of genomic 
      loci. Due to its very low recombination rate, the NF1 gene region can be regarded 
      as a further suitable locus. A combined resequencing and SNP typing project in a 
      European population disclosed the presence of only two well separated subgroups 
      of NF1 sequences. Statistical analysis revealed a bimodal distribution of the 
      pairwise differences, a positive value of Tajima's D and a TMRCA of 700,000 years 
      for the whole sample, and pairwise differences indicative for a growing 
      population and TMRCAs of 130,000 to 150,000 years for the subgroups. Together, 
      the data lead to a model that the recent European population went through a 
      bottleneck during the last 150,000 years of its history. Regarding the given 
      timeframe, this bottleneck could either reflect a speciation event which led to 
      the anatomically modern human (AMH), or a severe reduction of the population size 
      during the emigration of AMHs out of Africa or the immigration into Europe.
FAU - Schmegner, Claudia
AU  - Schmegner C
AD  - Abteilung Humangenetik, Universitat Ulm, Albert-Einstein-Allee 11, 89081, Ulm, 
      Germany.
FAU - Hoegel, Josef
AU  - Hoegel J
FAU - Vogel, Walther
AU  - Vogel W
FAU - Assum, Gunter
AU  - Assum G
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20051115
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
SB  - IM
MH  - Biological Evolution
MH  - Europe
MH  - *Genes, Neurofibromatosis 1
MH  - Genetics, Population
MH  - Humans
MH  - Linkage Disequilibrium/*genetics
MH  - *Polymorphism, Single Nucleotide
MH  - White People/*genetics
EDAT- 2005/09/27 09:00
MHDA- 2006/03/31 09:00
CRDT- 2005/09/27 09:00
PHST- 2005/07/07 00:00 [received]
PHST- 2005/08/10 00:00 [accepted]
PHST- 2005/09/27 09:00 [pubmed]
PHST- 2006/03/31 09:00 [medline]
PHST- 2005/09/27 09:00 [entrez]
AID - 10.1007/s00439-005-0056-2 [doi]
PST - ppublish
SO  - Hum Genet. 2005 Nov;118(2):276-86. doi: 10.1007/s00439-005-0056-2. Epub 2005 Nov 
      15.