Elmer K.R., Meyer A., Adaptation in the age of ecological
genomics: insights from parallelism and convergence, Trends
Ecol. Evol., 2011, 26, 298-306
Stapley J., Reger J., Feulner P.G., Smadja C., Galindo J.,
Ekblom R., Bennison C., Ball A.D., Beckerman A.P., Slate J.,
Adaptation genomics: the next generation, Trends Ecol Evol.,
2010, 25, 705-712
Stoneking M., Krause J., Learning about human population
history from ancient and modern genomes, Nat. Rev. Genet.,
2011, 12, 603-614
Nelen M., Veltman J.A., Genome and exome sequencing
in the clinic: unbiased genomic approaches with a high
diagnostic yield, Pharmacogenomics, 2012, 13, 511-
514
Gonzaga-Jauregui C., Lupski J.R., Gibbs R.A., Human
genome sequencing in health and disease, Annu. Rev. Med.,
2012, 63, 35-61
MacArthur D.G., Balasubramanian S., Frankish A., et al.
A systematic survey of loss-of-function variants in human
protein-coding genes. Science, 2012, 335, 823-828
Bailey-Wilson J.E., Wilson A.F. Linkage analysis in the nextgeneration
sequencing era, Hum Hered. 2011, 72, 228-236
Lander, E.S., The New Genomics: Global views of biology,
Science, 1996, 274, 536-539
Manolio T.A., Collins F.S., Cox N.J., Goldstein D.B., Hindorff
L.A., Hunter D.J., McCarthy M.I., Ramos E.M., Cardon L.R.,
Chakravarti A., Cho J.H., Guttmacher A.E., Kong A., Kruglyak
L., Mardis E., Rotimi C.N., Slatkin M., Valle D., Whittemore
A.S., Boehnke M, Clark A.G., Eichler E.E., Gibson G., Haines
J.L., Mackay T.F., McCarroll S.A., Visscher P.M. Finding the
missing heritability of complex diseases, Nature, 2009, 461,
747-753
Maher B. Personal genomes: The case of the missing
heritability, Nature, 2008, 456, 18-21
Bustamante C.D., Burchard E.G., De la Vega F.M., Genomics
for the world, Nature, 2011,75,163-165
Chen G., Ramos E., Adeyemo A., Shriner D., Zhou J.,
Doumatey A.P., Huang H., Erdos M.R., Gerry N.P., Herbert
A., Bentley A.R., Xu H., Charles BA., Christman M.F., Rotimi
C.N., UGT1A1 is a major locus influencing bilirubin levels in
African Americans, Eur. J. Hum. Genet., 2012, 20, 463-468
Cabral W.A., Barnes A.M., Adeyemo A., Cushing K., Chitayat
D., Porter F.D., Panny S.R., Gulamali-Majid F., Tishkoff S.A.,
Rebbeck T.R., Gueye S.M., Bailey-Wilson J.E., Brody L.C.,
Rotimi C.N., Marini J.C., A founder mutation in LEPRE1
carried by 1.5% of West Africans and 0.4% of African
Americans causes lethal recessive osteogenesis imperfecta,
2012, Genet Med.
Fu J., Festen E. A., Wijmenga C., Multi-ethnic studies in
complex traits, Hum. Mol. Genet., 2011 20, R206-R213
Sim X., Ong R.T., Suo C., Tay W.T., Liu J., Ng D.P., Boehnke
M., Chia K.S., Wong T.Y., Seielstad M., et al., Transferability
of type 2 diabetes implicated loci in multi-ethnic cohorts from
Southeast Asia, PLoS Genet., 2011, 7, e1001363
McClellan J., King M.C., Genetic heterogeneity in human
disease, Cell, 2010, 141, 210-217
Gravel S., Henn B.M., Gutenkunst R.N., Indap A.R., Marth
G.T., Clark A.G., Yu F., Gibbs R.A., 1000 Genomes Project,
Bustamante C.D., Demographic history and rare allele
sharing among human populations, Proc. Natl. Acad. Sci.
USA, 2011, 108, 11983-11988
Bamshad M.J., Ng S.B., Bigham A.W., Tabor H.K., Emond
M.J., Nickerson D.A., Shendure J. Exome sequencing as a
tool for Mendelian disease gene discovery, Nat. Rev. Genet.,
2011, 12, 745-55
Lupski J. R., Reid J. G., Gonzaga-Jauregui C., Rio Deiros
D., Chen D. C., Nazareth L., Bainbridge M., Dinh H., Jing
C., Wheeler D. A., McGuire A. L., Zhang F., Stankiewicz
P., Halperin J. J., Yang C., Gehman C., Guo D., Irikat
R. K., Tom W., Fantin N. J., Muzny D. M., Gibbs R. A.,
Whole-genome sequencing in a patient with Charcot-
Marie-Tooth neuropathy, N. Engl. J. Med., 2010, 362,
1181-1191
Muers M., Human genetics: Fruits of exome sequencing for
autism, Nat. Rev. Genet., 2012, 13, 377
Gibson G., Rare and common variants: twenty arguments.,
Nat Rev Genet. 2012, 13, 135-145
Durbin R. M., Altshuler D., Abecasis G. R., Bentley D. R.,
Chakravarti A., Clark A. G., Collins F. S. et al., A map of
human genome variation from population-scale sequencing,
Nature, 2010, 467, 1061- 1073
Nielsen R., Hellmann I., Hubisz M., Bustamante C., Clark A.
G., Recent and ongoing selection in the human genome, Nat.
Rev. Genet., 2007, 8, 857-868
Goldstein D. B., Chikhi L., Human migrations and population
structure: what we know and why it matters, Ann. Rev.
Genomics Hum. Genet., 2002, 3, 129-152
Orr H.T., Zoghbi H.Y., Trinucleotide repeat disorders, Annu.
Rev. Neurosci., 2007, 30, 575-621
Shao J., Diamond M,I., Polyglutamine diseases: emerging
concepts in pathogenesis and therapy. Hum. Mol. Genet.,
2007,2:R115-R123
Thompson D., Duedal S., Kirner J., McGuffog L., Last J.,
Reiman A., Byrd P., Taylor M., Easton D.F., Cancer risks
and mortality in heterozygous ATM mutation carriers. J Natl
Cancer Inst. 2005, 97, 813-822
Willems P.J., Bottlenecks in molecular testing for rare genetic
diseases, Hum. Mutat., 2008, 29, 772-775
Concannon P., Gatti R.A., Diversity of ATM gene mutations
detected in patients with ataxia-telangiectasia, Hum. Mutat.,
1997, 10, 100-107
Savitsky K., Bar-Shira A., Gilad S., Rotman G., Ziv Y.,
Vanagaite L., Tagle D. A., Smith S., Uziel T., Sfez S.,
Ashkenazi M., Pecker I., Frydman M., Harnik R., Patanjali S.
R., Simmons A., Clines G.A., Sartiel A., Gatti R.A., Chessa
L., Sanal O., Lavin M. F., Jaspers N. G., Taylor A. M., Arlett C.
F., Miki T., Weissman S. M., Lovett M., Collins F. S., Shiloh Y.,
A single ataxia telangiectasia gene with a product similar to
PI-3 kinase, Science, 1995, 268, 1749-1753
Soltanzadeh P., Friez M.J., Dunn D., von Niederhausern
A., Gurvich O.L., Swoboda K.J., Sampson J.B., Pestronk
A., Connolly A.M., Florence J.M., Finkel R.S., Bönnemann
C.G., Medne L., Mendell J.R., Mathews K.D., Wong
B.L., Sussman M.D., Zonana J., Kovak K., Gospe S.M.
Jr., Gappmaier E., Taylor L.E., Howard M.T., Weiss R.B.,
Flanigan K.M., Clinical and genetic characterization of
manifesting carriers of DMD mutations, Neuromuscul.
Disord. 2010, 20, 499-504
Ng S. B., Buckingham K. J., Lee C., Bigham A. W., Tabor
H. K., Dent K. M., Huff C. D., Shannon P. T., Jabs E. W.,
Nickerson D. A., Shendure J., Bamshad M. J., Exome
sequencing identifies the cause of a mendelian disorder, Nat.
Genet., 2010, 42, 30-35
Miles J. H. Autism spectrum disorders--a genetics review,
Genet. Med. 2011, 13, 278-294
Charlesworth D., Willis J. H., The genetics of inbreeding
depression, Nat. Rev. Genet., 2009, 10, 783-796
Postma E, Martini L, Martini P., Inbred women in a small
and isolated Swiss village have fewer children, J. Evol. Biol.,
2010, 23, 1468-1474
McKusick V. A., Hostetler J. A., Egeland J. A., Genetic
studies of the Amish. Background and potentialities, Bull.
Johns Hopkins Hosp., 1964, 115, 203-222
Puffenberger E. G., Jinks R. N., Sougnez C., Cibulskis K.,
Willert R. A., Achilly N. P., Cassidy R. P., Fiorentini C. J.,
Heiken K. F., Lawrence J. J., Mahoney M. H., Miller C. J., Nair
D. T., Politi K. A., Worcester K. N., Setton R. A., Dipiazza R.,
Sherman E. A., Eastman J. T., Francklyn C., Robey-Bond S.,
Rider N. L., Gabriel S., Morton D. H., Strauss K. A., Genetic
mapping and exome sequencing identify variants associated
with five novel diseases, PLoS One, 2012, 7, e28936
Young Center for Anabaptist and Pietist Studies,
Elizabethtown College. “Amish Population Trends 1991-
2010, 20-Year Highlights.” http://www2.etown.edu/
amishstudies/Population_Trends_1991_2010.asp
Miller K., Yost B., Flaherty S., Hillemeier M. M., Chase G. A.,
Weisman C. S., Dyer A. M., Health status, health conditions,
and health behaviors among Amish women. Results from the
Central Pennsylvania Women’s Health Study (CePAWHS),
Womens Health Issues, 2007, 17, 162-171
Hamilton, B. E., Martin, J. A., Ventura, S. J. Births: Preliminary
Data for 2007, National Vital Statistics Reports 57:12, March
18, 2009
Adams C. E., Leverland M. B., The effects of religious beliefs
on the health care practices of the Amish, Nurse Pract. 1986,
11, 58, 63, 67
Mitchell B. D., Hsueh W. C., King T. M., Pollin T. I., Sorkin J.,
Agarwala R., Schäffer A. A., Shuldiner A. R., Heritability of life
span in the Old Order Amish, Am. J. Med. Genet., 2001, 102,
346-352
Berg N. Why the Amish Population Is Exploding, The Atlantic
Cities, Aug 01, 2012
Golgowski, N., Amish population booming in the U.S. with a
new settlement founded nearly once a month, Daily Mail, July
28, 2012
Crnokrak P., Barrett S. C. Perspective: purging the genetic
load: a review of the experimental evidence. Evolution, 2002,
56, 2347-2358
Glémin S. How are deleterious mutations purged? Drift
versus nonrandom mating, Evolution, 2003, 57, 2678-2687
Reed F. A., Aquadro, C. F. Mutation, selection and the future
of human evolution, Trends Genet., 2006, 22, 479-484
Kambere M.B., Lane R.P. Co-regulation of a large and
rapidly evolving repertoire of odorant receptor genes, BMC
Neurosci. 2007, 8 Suppl 3, S2
Gilad Y., Man O., Pääbo S., Lancet D., Human specific
loss of olfactory receptor genes, Proc Natl Acad Sci U S A.
2003,100, 3324–3327
Niimura Y., Evolutionary dynamics of olfactory receptor genes
in chordates: interaction between environments and genomic
contents, Hum. Genomics, 2009, 4, 107-118
Olson M.V. When less is more: gene loss as an engine of
evolutionary change, Am. J. Hum. Genet. 1999, 64, 18-23
Ferrer-Admetlla A., Sikora M., Laayouni H., Esteve A.,
Roubinet F., Blancher A., Calafell F., Bertranpetit J., Casals F., A natural history of FUT2 polymorphism in humans, Mol.
Biol. Evol., 2009, 26, 1993-2003
Smyth D.J., Cooper J.D., Howson J.M., Clarke P., Downes
K., Mistry T., Stevens H., Walker N.M., Todd J.A., FUT2
nonsecretor status links type 1 diabetes susceptibility and
resistance to infection, Diabetes, 2011, 60, 3081-3084
Zimmerman P.A., Buckler-White A., Alkhatib G., Spalding T.,
Kubofcik J., Combadiere C., Weissman D., Cohen O., Rubbert
A., Lam G, Vaccarezza M., Kennedy P.E, Kumaraswami V.,
Giorgi J.V., Detels R., Hunter J., Chopek M., Berger E.A.,
Fauci A.S., Nutman T.B., Murphy P.M. (1997) Inherited
resistance to HIV-1 conferred by an inactivating mutation
in CC chemokine receptor 5: studies in populations with
contrasting clinical phenotypes, defined racial background,
and quantified risk, Mol Med., 1997, 3, 23-36
Novembre J., Galvani A. P., Slatkin M., The geographic
spread of the CCR5 Delta32 HIV-resistance allele. PLoS
Biol., 2005, 3, e339
Stephens J.C., Reich D.E., Goldstein D.B., Shin H.D., Smith
M.W., Carrington M., Winkler C., Huttley G.A., Allikmets R.,
Schriml L., Gerrard B., Malasky M., Ramos M.D., Morlot S.,
Tzetis M., Oddoux C., di Giovine F.S., Nasioulas G., Chandler
D., Aseev M., Hanson M., Kalaydjieva L., Glavac D., Gasparini
P., Kanavakis E., Claustres M., Kambouris M., Ostrer H., Duff
G., Baranov V., Sibul H., Metspalu A., Goldman D., Martin
N., Duffy D., Schmidtke J., Estivill X., O’Brien S.J., Dean M.,
Dating the origin of the CCR5-Delta32 AIDS-resistance allele
by the coalescence of haplotypes, Am. J. Hum. Genet. 1998,
62,1507-1515
Libert F., Cochaux P., Beckman G., Samson M., Aksenova
M., Cao A., Czeizel A., et al, The Dccr5 mutation conferring
protection against HIV-1 in Caucasian populations has a
single and recent origin in northeastern Europe, Hum. Mol.
Genet., 1998, 7, 399–406
Sabeti P. C., Walsh E., Schaffner S. F., Varilly P., Fry B.,
Hutcheson H. B., Cullen M., Mikkelsen T. S., Roy J.,
Patterson N., Cooper R., Reich D., Altshuler D., O’Brien S.,
Lander E. S., The case for selection at CCR5-Delta32, PLoS
Biol., 2005, 3, e378
Aidoo M., Terlouw D.J., Kolczak M.S., McElroy P.D., ter
Kuile F.O., Kariuki S., Nahlen B.L., Lal A.A., Udhayakumar
V., Protective effects of the sickle cell gene against malaria
morbidity and mortality, Lancet, 2002, 359, 1311-1312
Pattanapanyasat K., Yongvanitchit K., Tongtawe P.,
Tachavanich K., Wanachiwanawin W., Fucharoen S., Walsh
D.S., Impairment of Plasmodium falciparum growth in
thalassemic red blood cells: further evidence by using biotin
labeling and flow cytometry, Blood, 1999, 93, 3116-3119
Raber J., Huang Y., Ashford J. W., ApoE genotype accounts
for the vast majority of AD risk and AD pathology, Neurobiol.
Aging, 2004, 25, 641-650
Hanlon C.S., Rubinsztein D.C., Arginine residues at codons
112 and 158 in the apolipoprotein E gene correspond to
the ancestral state in humans, Atherosclerosis 1995, 112,
85–90
Caselli R.J., Age-related memory decline and apolipoprotein
E e4, Discov. Med., 2009, 8, 47-50
Caselli R.J., Dueck A.C., Osborne D., Sabbagh M.N.,
Connor D.J., Ahern G.L., Baxter L.C., Rapcsak S.Z., Shi J.,
Woodruff B.K., Locke D.E., Snyder C.H., Alexander G.E.,
Rademakers R, Reiman E.M., Longitudinal modeling of agerelated
memory decline and the APOE epsilon4 effect. N.
Engl. J. Med., 2009, 361, 255-263
Williams G.C., Pleiotropy, natural selection, and the evolution
of senescence, Evolution, 1957, 11, 398-411
Hamilton W. D., The moulding of senescence by natural
selection, J. Theoret. Biol., 1966, 12, 12-45.
Blurton Jones N.G., Hawkes K., O’Connell J.F., Antiquity of
postreproductive life: are there modern impacts on huntergatherer
postreproductive life spans?, Am J Hum Biol., 2002,
14, 184-205
Nyholt D. R., Yu C-E., VIsscher P. M., On Jim Watson’s
APOE status: genetic information is hard to hide. European
J. Human Genet., 2009, 17, 147-150.
Burger J., Kirchner M., Bramanti B., Haak, W., Thomas,
M.G., Absence of the lactase-persistence-associated allele in
early Neolithic Europeans, Proc. Natl. Acad. Sci. USA, 2007,
104, 3736-3741
Tishkoff S. A., Reed F. A., Ranciaro A., Voight B. F., Babbitt
C. C., Silverman J. S., Powell K., Mortensen H. M., Hirbo J. B., Osman M., Ibrahim M., Omar S. A., Lema G., Nyambo
T. B., Ghori J., Bumpstead S., Pritchard J. K., Wray G.
A., Deloukas P., Convergent adaptation of human lactase
persistence in Africa and Europe, Nature Genet. 2007, 39,
31-40
Parra E.J., Human pigmentation variation: evolution, genetic
basis, and implications for public health, Am. J. Phys.
Anthropol. 2007, Suppl 45, 85-105
Harris S.S., Vitamin D and African Americans, J. Nutr., 2006,
136, 1126-1129
Jablonski, N.G., The evolution of human skin colouration
and its relevance to health in the modern world, J. R. Coll.
Physicians Edinb. 2012, 42, 58-63
Lander E. S., Linton L. M., Birren B., et al, International Human
Genome Sequencing Consortium, Initial sequencing and
analysis of the human genome. Nature, 2001, 409, 860-921
Venter, J. C., Adams, M. D., Myers, E. W., et al, The
sequence of the human genome, Science, 2001, 291,
1304-1351
1000 Genomes Project Consortium, A map of human
genome variation from population-scale sequencing, Nature,
2010, 467, 1061-1073
Zhang X., Goodsell J., Norgren R. B. Jr. Limitations of the
rhesus macaque draft genome assembly and annotation,
BMC Genomics, 2012, 13, 206.
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