메뉴 건너뛰기




Volumn 8, Issue 3, 2007, Pages 206-216

The evolutionary significance of cis-regulatory mutations

Author keywords

[No Author keywords available]

Indexed keywords

BEHAVIOR; CIS ISOMER; COGNITION; DIET; EVOLUTIONARY ADAPTATION; GENE MUTATION; GENE SEQUENCE; GENETIC TRAIT; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; IMMUNE RESPONSE; MOLECULAR EVOLUTION; MORPHOLOGY; NONHUMAN; PHENOTYPE; PIGMENTATION; PLEIOTROPY; PRIORITY JOURNAL; QUALITATIVE ANALYSIS; REGULATORY SEQUENCE; REVIEW;

EID: 33847057226     PISSN: 14710056     EISSN: 14710064     Source Type: Journal    
DOI: 10.1038/nrg2063     Document Type: Review
Times cited : (1157)

References (104)
  • 1
    • 54249116230 scopus 로고
    • Genetic regulatory mechanisms in the synthesis of proteins
    • Jacob, F. & Monod, J. Genetic regulatory mechanisms in the synthesis of proteins. J. Mol. Biol. 3, 318-356 (1961).
    • (1961) J. Mol. Biol , vol.3 , pp. 318-356
    • Jacob, F.1    Monod, J.2
  • 2
    • 73049167504 scopus 로고
    • General conclusions - teleonomic mechanisms in cellular metabolism, growth, and differentiation
    • Monod, J. & Jacob, F. General conclusions - teleonomic mechanisms in cellular metabolism, growth, and differentiation. Cold Spring Harb. Symp. Quant. Biol. 26, 389-401 (1961).
    • (1961) Cold Spring Harb. Symp. Quant. Biol , vol.26 , pp. 389-401
    • Monod, J.1    Jacob, F.2
  • 3
    • 0015070886 scopus 로고
    • Repetitive and non-repetitive DNA sequences and a speculation on the origins of evolutionary novelty
    • Britten, R. J. & Davidson, E. H. Repetitive and non-repetitive DNA sequences and a speculation on the origins of evolutionary novelty. Q. Rev. Biol. 46, 111-138 (1971).
    • (1971) Q. Rev. Biol , vol.46 , pp. 111-138
    • Britten, R.J.1    Davidson, E.H.2
  • 4
    • 0016669094 scopus 로고    scopus 로고
    • King, M. C. & Wilson, A. C. Evolution at two levels in humans and chimpanzees. Science 188, 107-116 (1975). This classic paper proposed that phenotypic differences between humans and chimpanzees are largely due to cis-regulatory mutations.
    • King, M. C. & Wilson, A. C. Evolution at two levels in humans and chimpanzees. Science 188, 107-116 (1975). This classic paper proposed that phenotypic differences between humans and chimpanzees are largely due to cis-regulatory mutations.
  • 6
    • 0034251814 scopus 로고    scopus 로고
    • Evolutionary developmental biology and the problem of variation
    • Stern, D. L. Evolutionary developmental biology and the problem of variation. Evolution 54, 1079-1091 (2000).
    • (2000) Evolution , vol.54 , pp. 1079-1091
    • Stern, D.L.1
  • 8
    • 0042697343 scopus 로고    scopus 로고
    • The evolution of transcriptional regulation in eukaryotes
    • Wray, G. A. et al. The evolution of transcriptional regulation in eukaryotes. Mol. Biol. Evol. 20, 1377-1419 (2003).
    • (2003) Mol. Biol. Evol , vol.20 , pp. 1377-1419
    • Wray, G.A.1
  • 11
    • 0026299703 scopus 로고
    • Dominant gain-of-function mutations that lead to misregulation of the C. elegans heterochronic gene lin-14, and the evolutionary implications of dominant mutations in pattern-formation genes
    • Ruvkun, G., Wightman, B., Burglin, T. & Arasu, P. Dominant gain-of-function mutations that lead to misregulation of the C. elegans heterochronic gene lin-14, and the evolutionary implications of dominant mutations in pattern-formation genes. Dev. Suppl. 1, 47-54 (1991).
    • (1991) Dev. Suppl , vol.1 , pp. 47-54
    • Ruvkun, G.1    Wightman, B.2    Burglin, T.3    Arasu, P.4
  • 12
    • 10744224159 scopus 로고    scopus 로고
    • A survey of genetic and epigenetic variation affecting human gene expression
    • Pastinen, T. et al. A survey of genetic and epigenetic variation affecting human gene expression. Physiol. Genomics 16, 184-193 (2003).
    • (2003) Physiol. Genomics , vol.16 , pp. 184-193
    • Pastinen, T.1
  • 13
    • 48949094754 scopus 로고    scopus 로고
    • Ronald, J., Brem, R. B., Whittle, J. & Kruglyak, L. Local regulatory variation in Saccharomyces cerevisiae. PLoS Genet. 1, e25 (2005).
    • Ronald, J., Brem, R. B., Whittle, J. & Kruglyak, L. Local regulatory variation in Saccharomyces cerevisiae. PLoS Genet. 1, e25 (2005).
  • 14
    • 3042722019 scopus 로고    scopus 로고
    • Evolutionary changes in cis and trans gene regulation
    • Wittkopp, P. J., Haerum, B. K. & Clark, A. G. Evolutionary changes in cis and trans gene regulation. Nature 430, 85-88 (2004).
    • (2004) Nature , vol.430 , pp. 85-88
    • Wittkopp, P.J.1    Haerum, B.K.2    Clark, A.G.3
  • 15
    • 33847042782 scopus 로고    scopus 로고
    • Li, W. H. Molecular Evolution (Sinauer Associates, Sunderland, 1997). References 13-15 measured the relative contributions of mutations in cis and trans to differences in transcription.
    • Li, W. H. Molecular Evolution (Sinauer Associates, Sunderland, 1997). References 13-15 measured the relative contributions of mutations in cis and trans to differences in transcription.
  • 16
    • 0032893932 scopus 로고    scopus 로고
    • Preservation of duplicate genes by complementary, degenerative mutations
    • Force, A. et al. Preservation of duplicate genes by complementary, degenerative mutations. Genetics 151, 1531-1545 (1999).
    • (1999) Genetics , vol.151 , pp. 1531-1545
    • Force, A.1
  • 17
    • 0041858033 scopus 로고    scopus 로고
    • Genetic mechanisms and constraints governing the evolution of correlated traits in drosophilid flies
    • Gompel, N. & Carroll, S. B. Genetic mechanisms and constraints governing the evolution of correlated traits in drosophilid flies. Nature 424, 931-935 (2003).
    • (2003) Nature , vol.424 , pp. 931-935
    • Gompel, N.1    Carroll, S.B.2
  • 18
    • 0034503506 scopus 로고    scopus 로고
    • Genetic and developmental analysis of abdominal pigmentation differences across species in the Drosophila dunni subgroup
    • Hollocher, H., Hatcher, J. L. & Dyreson, E. G. Genetic and developmental analysis of abdominal pigmentation differences across species in the Drosophila dunni subgroup. Evolution 54, 2057-2071 (2000).
    • (2000) Evolution , vol.54 , pp. 2057-2071
    • Hollocher, H.1    Hatcher, J.L.2    Dyreson, E.G.3
  • 19
    • 0034735810 scopus 로고    scopus 로고
    • Genetic control and evolution of sexually dimorphic characters in Drosophila
    • Kopp, A., Duncan, I., Godt, D. & Carroll, S. B. Genetic control and evolution of sexually dimorphic characters in Drosophila. Nature 408, 553-559 (2000).
    • (2000) Nature , vol.408 , pp. 553-559
    • Kopp, A.1    Duncan, I.2    Godt, D.3    Carroll, S.B.4
  • 20
    • 0035992327 scopus 로고    scopus 로고
    • Evolution of male sexual characters in the Oriental Drosophila melanogaster species group
    • Kopp, A. & True, J. R. Evolution of male sexual characters in the Oriental Drosophila melanogaster species group. Evol. Dev. 4, 278-291 (2002).
    • (2002) Evol. Dev , vol.4 , pp. 278-291
    • Kopp, A.1    True, J.R.2
  • 21
    • 0042033365 scopus 로고
    • Tissue specific expression of the ebony gene
    • Hovemann, B. Tissue specific expression of the ebony gene. J. Neurogenet. 7, 128-128 (1991).
    • (1991) J. Neurogenet , vol.7 , pp. 128-128
    • Hovemann, B.1
  • 22
    • 0032500899 scopus 로고    scopus 로고
    • The Drosophila ebony gene is closely related to microbial peptide synthetases and shows specific cuticle and nervous system expression
    • Hovemann, B. T. et al. The Drosophila ebony gene is closely related to microbial peptide synthetases and shows specific cuticle and nervous system expression. Gene 221, 1-9 (1998).
    • (1998) Gene , vol.221 , pp. 1-9
    • Hovemann, B.T.1
  • 23
    • 33646350686 scopus 로고    scopus 로고
    • Drosophila tan encodes a novel hydrolase required in pigmentation and vision
    • True, J. R. et al. Drosophila tan encodes a novel hydrolase required in pigmentation and vision. PLoS Genet. 1, e63 (2005).
    • (2005) PLoS Genet , vol.1
    • True, J.R.1
  • 24
    • 0026009985 scopus 로고
    • Temporal and spatial expression of the yellow gene in correlation with cuticle formation and dopa decarboxylase activity in Drosophila development
    • Walter, M. F. et al. Temporal and spatial expression of the yellow gene in correlation with cuticle formation and dopa decarboxylase activity in Drosophila development. Dev. Biol. 147, 32-45 (1991).
    • (1991) Dev. Biol , vol.147 , pp. 32-45
    • Walter, M.F.1
  • 25
    • 0036337804 scopus 로고    scopus 로고
    • Reciprocal functions of the Drosophila yellow and ebony proteins in the development and evolution of pigment patterns
    • Wittkopp, P. J., True, J. R. & Carroll, S. B. Reciprocal functions of the Drosophila yellow and ebony proteins in the development and evolution of pigment patterns. Development 129, 1849-1858 (2002).
    • (2002) Development , vol.129 , pp. 1849-1858
    • Wittkopp, P.J.1    True, J.R.2    Carroll, S.B.3
  • 26
    • 13444304173 scopus 로고    scopus 로고
    • Chance caught on the wing: Cis-regulatory evolution and the origin of pigment patterns in Drosophila
    • Gompel, N., Prud'homme, B., Wittkopp, P. J., Kassner, V. A. & Carroll, S. B. Chance caught on the wing: cis-regulatory evolution and the origin of pigment patterns in Drosophila. Nature 433, 481-487 (2005).
    • (2005) Nature , vol.433 , pp. 481-487
    • Gompel, N.1    Prud'homme, B.2    Wittkopp, P.J.3    Kassner, V.A.4    Carroll, S.B.5
  • 27
    • 33745227338 scopus 로고    scopus 로고
    • Jeong, S., Rokas, A. & Carroll, S. B. Regulation of body pigmentation by the Abdominal-B Hox protein and its gain and loss in Drosophila evolution. Cell 125, 1387-1399 (2006). This study illustrates the power of using a combination of detailed molecular genetic analyses with an in-depth sampling of related species.
    • Jeong, S., Rokas, A. & Carroll, S. B. Regulation of body pigmentation by the Abdominal-B Hox protein and its gain and loss in Drosophila evolution. Cell 125, 1387-1399 (2006). This study illustrates the power of using a combination of detailed molecular genetic analyses with an in-depth sampling of related species.
  • 28
    • 33646191543 scopus 로고    scopus 로고
    • Prud'homme, B. et al. Repeated morphological evolution through cis-regulatory changes in a pleiotropic gene. Nature 440, 1050-1053 (2006). References 26 and 28 illustrate a remarkable case of similar genetic bases for a parallel change in wing pigmentation in flies.
    • Prud'homme, B. et al. Repeated morphological evolution through cis-regulatory changes in a pleiotropic gene. Nature 440, 1050-1053 (2006). References 26 and 28 illustrate a remarkable case of similar genetic bases for a parallel change in wing pigmentation in flies.
  • 29
    • 0037125954 scopus 로고    scopus 로고
    • Evolution of yellow gene regulation and pigmentation in Drosophila
    • Wittkopp, P. J., Vaccaro, K. & Carroll, S. B. Evolution of yellow gene regulation and pigmentation in Drosophila. Curr. Biol. 12, 1547-1556 (2002).
    • (2002) Curr. Biol , vol.12 , pp. 1547-1556
    • Wittkopp, P.J.1    Vaccaro, K.2    Carroll, S.B.3
  • 30
    • 0021723167 scopus 로고
    • Molecular evolution in Drosophila and the higher Diptera II. A time scale for fly evolution
    • Beverley, S. M. & Wilson, A. C. Molecular evolution in Drosophila and the higher Diptera II. A time scale for fly evolution. J. Mol. Evol. 21, 1-13 (1984).
    • (1984) J. Mol. Evol , vol.21 , pp. 1-13
    • Beverley, S.M.1    Wilson, A.C.2
  • 31
    • 0030809663 scopus 로고    scopus 로고
    • A framework physical map of Drosophila virilis based on P1 clones: Applications in genome evolution
    • Vieira, J., Vieira, C. P., Hartl, D. L. & Lozovskaya, E. R. A framework physical map of Drosophila virilis based on P1 clones: applications in genome evolution. Chromosoma 106, 99-107 (1997).
    • (1997) Chromosoma , vol.106 , pp. 99-107
    • Vieira, J.1    Vieira, C.P.2    Hartl, D.L.3    Lozovskaya, E.R.4
  • 32
    • 0037452588 scopus 로고    scopus 로고
    • Wittkopp, P. J., Williams, B. L., Selegue, J. E. & Carroll, S. B. Drosophila pigmentation evolution: divergent genotypes underlying convergent phenotypes. Proc. Natl Acad. Sci. USA 100, 1808-1813 (2003). This study demonstrated that parallel morphological changes do not always have a similar underlying genetic basis.
    • Wittkopp, P. J., Williams, B. L., Selegue, J. E. & Carroll, S. B. Drosophila pigmentation evolution: divergent genotypes underlying convergent phenotypes. Proc. Natl Acad. Sci. USA 100, 1808-1813 (2003). This study demonstrated that parallel morphological changes do not always have a similar underlying genetic basis.
  • 33
    • 0032937401 scopus 로고    scopus 로고
    • The development and evolution of bristle patterns in Diptera
    • Simpson, P., Woehl, R. & Usui, K. The development and evolution of bristle patterns in Diptera. Development 126, 1349-1364 (1999).
    • (1999) Development , vol.126 , pp. 1349-1364
    • Simpson, P.1    Woehl, R.2    Usui, K.3
  • 34
    • 0034712834 scopus 로고    scopus 로고
    • Divergence of larval morphology between Drosophila sechellia and its sibling species caused by cis-regulatory evolution of ovo/shaven-baby
    • Sucena, E. & Stern, D. L. Divergence of larval morphology between Drosophila sechellia and its sibling species caused by cis-regulatory evolution of ovo/shaven-baby. Proc. Natl Acad. Sci. USA 97, 4530-4534 (2000).
    • (2000) Proc. Natl Acad. Sci. USA , vol.97 , pp. 4530-4534
    • Sucena, E.1    Stern, D.L.2
  • 35
    • 0034193303 scopus 로고    scopus 로고
    • Genetic analysis of bristle loss in hybrids between Drosophila melanogaster and D. simulans provides evidence for divergence of cis-regulatory sequences in the achaete-scute gene complex
    • Skaer, N. & Simpson, P. Genetic analysis of bristle loss in hybrids between Drosophila melanogaster and D. simulans provides evidence for divergence of cis-regulatory sequences in the achaete-scute gene complex. Dev. Biol. 221, 148-167 (2000).
    • (2000) Dev. Biol , vol.221 , pp. 148-167
    • Skaer, N.1    Simpson, P.2
  • 36
    • 0038517876 scopus 로고    scopus 로고
    • Regulatory evolution of shavenbaby/ovo underlies multiple cases of morphological parallelism
    • Sucena, E., Delon, I., Jones, I., Payre, F. & Stern, D. L. Regulatory evolution of shavenbaby/ovo underlies multiple cases of morphological parallelism. Nature 424, 935-938 (2003).
    • (2003) Nature , vol.424 , pp. 935-938
    • Sucena, E.1    Delon, I.2    Jones, I.3    Payre, F.4    Stern, D.L.5
  • 37
    • 0035924332 scopus 로고    scopus 로고
    • The genetic architecture of divergence between threespine stickleback species
    • Peichel, C. L. et al. The genetic architecture of divergence between threespine stickleback species. Nature 414, 901-905 (2001).
    • (2001) Nature , vol.414 , pp. 901-905
    • Peichel, C.L.1
  • 39
    • 1942469390 scopus 로고    scopus 로고
    • Parallel genetic basis for repeated evolution of armor loss in Alaskan threespine stickleback populations
    • Cresko, W. A. et al. Parallel genetic basis for repeated evolution of armor loss in Alaskan threespine stickleback populations. Proc. Natl Acad. Sci. USA 101, 6050-6055 (2004).
    • (2004) Proc. Natl Acad. Sci. USA , vol.101 , pp. 6050-6055
    • Cresko, W.A.1
  • 40
    • 1942455815 scopus 로고    scopus 로고
    • Shapiro, M. D. et al. Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks. Nature 428, 717-723 (2004). This study used a combination of genetic mapping and expression analyses to demonstrate that cis-regulatory mutation(s) constitute the primary genetic basis for loss of pelvic armour in sticklebacks.
    • Shapiro, M. D. et al. Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks. Nature 428, 717-723 (2004). This study used a combination of genetic mapping and expression analyses to demonstrate that cis-regulatory mutation(s) constitute the primary genetic basis for loss of pelvic armour in sticklebacks.
  • 41
    • 0031003751 scopus 로고    scopus 로고
    • Backfoot is a novel homeobox gene expressed in the mesenchyme of developing hind limb
    • Shang, J., Luo, Y. & Clayton, D. A. Backfoot is a novel homeobox gene expressed in the mesenchyme of developing hind limb. Dev. Dyn. 209, 242-253 (1997).
    • (1997) Dev. Dyn , vol.209 , pp. 242-253
    • Shang, J.1    Luo, Y.2    Clayton, D.A.3
  • 43
    • 0035016840 scopus 로고    scopus 로고
    • The phylogeny of the Gasterosteidae: Combining behavioral and morphological data sets
    • McLennan, D. A. & Mattern, M. Y. The phylogeny of the Gasterosteidae: combining behavioral and morphological data sets. Cladistics 17, 11-27 (2001).
    • (2001) Cladistics , vol.17 , pp. 11-27
    • McLennan, D.A.1    Mattern, M.Y.2
  • 44
    • 0022178883 scopus 로고
    • Patterns of temporal change in single morphological characters of a miocene stickleback fish
    • Bell, M. A., Baumgartner, J. V. & Olson, E. C. Patterns of temporal change in single morphological characters of a miocene stickleback fish. Paleobiology 11, 258-271 (1985).
    • (1985) Paleobiology , vol.11 , pp. 258-271
    • Bell, M.A.1    Baumgartner, J.V.2    Olson, E.C.3
  • 46
    • 19344373920 scopus 로고    scopus 로고
    • Tanaka, M. et al. Developmental genetic basis for the evolution of pelvic fin loss in the pufferfish Takifugu rubripes. Dev. Biol. 281, 227-239 (2005).
    • Tanaka, M. et al. Developmental genetic basis for the evolution of pelvic fin loss in the pufferfish Takifugu rubripes. Dev. Biol. 281, 227-239 (2005).
  • 47
    • 0037464547 scopus 로고    scopus 로고
    • Genetics and the making of Homo sapiens
    • Carroll, S. B. Genetics and the making of Homo sapiens. Nature 422, 849-857 (2003).
    • (2003) Nature , vol.422 , pp. 849-857
    • Carroll, S.B.1
  • 48
    • 5444236355 scopus 로고    scopus 로고
    • Positive selection on the human genome
    • Vallender, E. J. & Lahn, B. T. Positive selection on the human genome. Hum. Mol. Genet. 13, R245-R254 (2004).
    • (2004) Hum. Mol. Genet , vol.13
    • Vallender, E.J.1    Lahn, B.T.2
  • 49
    • 0028343387 scopus 로고
    • Expression of the Duffy antigen in K562 cells. Evidence that it is the human erythrocyte chemokine receptor
    • Chaudhuri, A. et al. Expression of the Duffy antigen in K562 cells. Evidence that it is the human erythrocyte chemokine receptor. J. Biol. Chem. 269, 7835-7838 (1994).
    • (1994) J. Biol. Chem , vol.269 , pp. 7835-7838
    • Chaudhuri, A.1
  • 50
    • 0027372505 scopus 로고
    • A receptor for the malarial parasite Plasmodium vivax: The erythrocyte chemokine receptor
    • Horuk, R. et al. A receptor for the malarial parasite Plasmodium vivax: the erythrocyte chemokine receptor. Science 261, 1182-1184 (1993).
    • (1993) Science , vol.261 , pp. 1182-1184
    • Horuk, R.1
  • 51
    • 1242292368 scopus 로고    scopus 로고
    • Sequence, evolution and ligand binding properties of mammalian Duffy antigen/receptor for chemokines
    • Tournamille, C. et al. Sequence, evolution and ligand binding properties of mammalian Duffy antigen/receptor for chemokines. Immunogenetics 55, 682-694 (2004).
    • (2004) Immunogenetics , vol.55 , pp. 682-694
    • Tournamille, C.1
  • 52
    • 0034093078 scopus 로고    scopus 로고
    • The Duffy protein: A malarial and chemokine receptor
    • Pogo, A. O. & Chaudhuri, A. The Duffy protein: a malarial and chemokine receptor. Semin. Hematol. 37, 122-129 (2000).
    • (2000) Semin. Hematol , vol.37 , pp. 122-129
    • Pogo, A.O.1    Chaudhuri, A.2
  • 53
    • 0030917736 scopus 로고    scopus 로고
    • From malaria to chemokine receptor: The emerging physiologic role of the Duffy blood group antigen
    • Hadley, T. J. & Peiper, S. C. From malaria to chemokine receptor: the emerging physiologic role of the Duffy blood group antigen. Blood 89, 3077-3091 (1997).
    • (1997) Blood , vol.89 , pp. 3077-3091
    • Hadley, T.J.1    Peiper, S.C.2
  • 54
    • 0017077503 scopus 로고
    • The resistance factor to Plasmodium vivax in blacks. The Duffy-blood-group genotype, FyFy
    • Miller, L. H., Mason, S. J., Clyde, D. F. & McGinniss, M. H. The resistance factor to Plasmodium vivax in blacks. The Duffy-blood-group genotype, FyFy. N. Engl. J. Med. 295, 302-304 (1976).
    • (1976) N. Engl. J. Med , vol.295 , pp. 302-304
    • Miller, L.H.1    Mason, S.J.2    Clyde, D.F.3    McGinniss, M.H.4
  • 55
    • 0028985434 scopus 로고
    • The coding sequence of Duffy blood group gene in humans and simians: Restriction fragment length polymorphism, antibody and malarial parasite specificities, and expression in nonerythroid tissues in Duffy-negative individuals
    • Chaudhuri, A., Polyakova, J., Zbrzezna, V. & Pogo, A. O. The coding sequence of Duffy blood group gene in humans and simians: restriction fragment length polymorphism, antibody and malarial parasite specificities, and expression in nonerythroid tissues in Duffy-negative individuals. Blood 85, 615-621 (1995).
    • (1995) Blood , vol.85 , pp. 615-621
    • Chaudhuri, A.1    Polyakova, J.2    Zbrzezna, V.3    Pogo, A.O.4
  • 56
    • 0028943949 scopus 로고
    • The Duffy antigen/receptor for chemokines (DARC) is expressed in endothelial cells of Duffy negative individuals who lack the erythrocyte receptor
    • Peiper, S. C. et al. The Duffy antigen/receptor for chemokines (DARC) is expressed in endothelial cells of Duffy negative individuals who lack the erythrocyte receptor. J. Exp. Med. 181, 1311-1317 (1995).
    • (1995) J. Exp. Med , vol.181 , pp. 1311-1317
    • Peiper, S.C.1
  • 57
    • 0029946194 scopus 로고    scopus 로고
    • Characterization of the Duffy gene promoter: Evidence for tissue-specific abolishment of expression in Fy(a-b-) of black individuals
    • Iwamoto, S., Li, J., Sugimoto, N., Okuda, H. & Kajii, E. Characterization of the Duffy gene promoter: evidence for tissue-specific abolishment of expression in Fy(a-b-) of black individuals. Biochem. Biophys. Res. Commun. 222, 852-859 (1996).
    • (1996) Biochem. Biophys. Res. Commun , vol.222 , pp. 852-859
    • Iwamoto, S.1    Li, J.2    Sugimoto, N.3    Okuda, H.4    Kajii, E.5
  • 58
    • 0029001881 scopus 로고    scopus 로고
    • Tournamille, C., Colin, Y., Cartron, J. P. & Le Van Kim, C. Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. Nature Genet. 10, 224-228 (1995).
    • Tournamille, C., Colin, Y., Cartron, J. P. & Le Van Kim, C. Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. Nature Genet. 10, 224-228 (1995).
  • 59
    • 0033911892 scopus 로고    scopus 로고
    • Hamblin, M. T. & Di Rienzo, A. Detection of the signature of natural selection in humans: evidence from the Duffy blood group locus. Am. J. Hum. Genet. 66, 1669-1679 (2000). References 58 and 59 provided evidence regarding the molecular and evolutionary mechanisms, respectively, for adaptive evolution of a regulatory SNP that provides protection from malarial infection.
    • Hamblin, M. T. & Di Rienzo, A. Detection of the signature of natural selection in humans: evidence from the Duffy blood group locus. Am. J. Hum. Genet. 66, 1669-1679 (2000). References 58 and 59 provided evidence regarding the molecular and evolutionary mechanisms, respectively, for adaptive evolution of a regulatory SNP that provides protection from malarial infection.
  • 60
    • 0036157464 scopus 로고    scopus 로고
    • Complex signatures of natural selection at the Duffy blood group locus
    • Hamblin, M. T., Thompson, E. E. & Di Rienzo, A. Complex signatures of natural selection at the Duffy blood group locus. Am. J. Hum. Genet. 70, 369-383 (2002).
    • (2002) Am. J. Hum. Genet , vol.70 , pp. 369-383
    • Hamblin, M.T.1    Thompson, E.E.2    Di Rienzo, A.3
  • 61
    • 0347416709 scopus 로고    scopus 로고
    • Genetics of lactase persistence and lactose intolerance
    • Swallow, D. M. Genetics of lactase persistence and lactose intolerance. Annu. Rev. Genet. 37, 197-219 (2003).
    • (2003) Annu. Rev. Genet , vol.37 , pp. 197-219
    • Swallow, D.M.1
  • 62
    • 2442677652 scopus 로고    scopus 로고
    • Genetic signatures of strong recent positive selection at the lactase gene
    • Bersaglieri, T. et al. Genetic signatures of strong recent positive selection at the lactase gene. Am. J. Hum. Genet. 74, 1111-1120 (2004).
    • (2004) Am. J. Hum. Genet , vol.74 , pp. 1111-1120
    • Bersaglieri, T.1
  • 63
    • 0141702274 scopus 로고    scopus 로고
    • Lactase persistence DNA variant enhances lactase promoter activity in vitro: Functional role as a cis regulatory element
    • Olds, L. C. & Sibley, E. Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element. Hum. Mol. Genet. 12, 2333-2340 (2003).
    • (2003) Hum. Mol. Genet , vol.12 , pp. 2333-2340
    • Olds, L.C.1    Sibley, E.2
  • 64
    • 33845900450 scopus 로고    scopus 로고
    • Tishkoff, S. A. et al. Convergent adaptation of human lactase persistence in Africa and Europe. Nature Genet. 39, 31-40 (2007). This study demonstrated a nearly parallel genetic basis for an important physiological adaptation during recent human evolution.
    • Tishkoff, S. A. et al. Convergent adaptation of human lactase persistence in Africa and Europe. Nature Genet. 39, 31-40 (2007). This study demonstrated a nearly parallel genetic basis for an important physiological adaptation during recent human evolution.
  • 65
    • 29244467422 scopus 로고    scopus 로고
    • The eloquent ape: Genes, brains and the evolution of language
    • Fisher, S. E. & Marcus, G. F. The eloquent ape: genes, brains and the evolution of language. Nature Rev. Genet. 7, 9-20 (2006).
    • (2006) Nature Rev. Genet , vol.7 , pp. 9-20
    • Fisher, S.E.1    Marcus, G.F.2
  • 66
    • 33646926418 scopus 로고    scopus 로고
    • The jewels of our genome: The search for the genomic changes underlying the evolutionarily unique capacities of the human brain
    • Sikela, J. M. The jewels of our genome: the search for the genomic changes underlying the evolutionarily unique capacities of the human brain. PLoS Genet. 2, e80 (2006).
    • (2006) PLoS Genet , vol.2
    • Sikela, J.M.1
  • 67
    • 0037066542 scopus 로고    scopus 로고
    • Enard, W. et al. Intra- and interspecific variation in primate gene expression patterns. Science 296, 340-343 (2002). The authors demonstrated an elevated rate of change in the expression of genes within the brain on the branch leading to humans relative to that leading to chimpanzees.
    • Enard, W. et al. Intra- and interspecific variation in primate gene expression patterns. Science 296, 340-343 (2002). The authors demonstrated an elevated rate of change in the expression of genes within the brain on the branch leading to humans relative to that leading to chimpanzees.
  • 68
    • 0242268390 scopus 로고    scopus 로고
    • Elevated gene expression levels distinguish human from non-human primate brains
    • Caceres, M. et al. Elevated gene expression levels distinguish human from non-human primate brains. Proc. Natl Acad. Sci. USA 100, 13030-13035 (2003).
    • (2003) Proc. Natl Acad. Sci. USA , vol.100 , pp. 13030-13035
    • Caceres, M.1
  • 69
    • 22144447840 scopus 로고    scopus 로고
    • Parallel patterns of evolution in the genomes and transcriptomes of humans and chimpanzees
    • Khaitovich, P. et al. Parallel patterns of evolution in the genomes and transcriptomes of humans and chimpanzees. Science 309, 1850-1854 (2005).
    • (2005) Science , vol.309 , pp. 1850-1854
    • Khaitovich, P.1
  • 70
    • 4444287699 scopus 로고    scopus 로고
    • Regional patterns of gene expression in human and chimpanzee brains
    • Khaitovich, P. et al. Regional patterns of gene expression in human and chimpanzee brains. Genome Res. 14, 1462-1473 (2004).
    • (2004) Genome Res , vol.14 , pp. 1462-1473
    • Khaitovich, P.1
  • 71
    • 29144492108 scopus 로고    scopus 로고
    • Rockman, M. V. et al. Ancient and recent positive selection transformed opioid cis-regulation in humans. PLoS Biol. 3, e387 (2005). This study found evidence of positive selection on specific cis-regulatory mutations at a locus encoding a neuropeptide with roles in human cognition.
    • Rockman, M. V. et al. Ancient and recent positive selection transformed opioid cis-regulation in humans. PLoS Biol. 3, e387 (2005). This study found evidence of positive selection on specific cis-regulatory mutations at a locus encoding a neuropeptide with roles in human cognition.
  • 73
    • 0027215626 scopus 로고
    • Endogenous dynorphins inhibit excitatory neurotransmission and block LTP induction in the hippocampus
    • Wagner, J. J., Terman, G. W. & Chavkin, C. Endogenous dynorphins inhibit excitatory neurotransmission and block LTP induction in the hippocampus. Nature 363, 451-454 (1993).
    • (1993) Nature , vol.363 , pp. 451-454
    • Wagner, J.J.1    Terman, G.W.2    Chavkin, C.3
  • 74
    • 0036150935 scopus 로고    scopus 로고
    • Subjects with major depression or bipolar disorder show reduction of prodynorphin mRNA expression in discrete nuclei of the amygdaloid complex
    • Hurd, Y. L. Subjects with major depression or bipolar disorder show reduction of prodynorphin mRNA expression in discrete nuclei of the amygdaloid complex. Mol. Psychiatry 7, 75-81 (2002).
    • (2002) Mol. Psychiatry , vol.7 , pp. 75-81
    • Hurd, Y.L.1
  • 75
    • 0035878179 scopus 로고    scopus 로고
    • Prodynorphin and ? opioid receptor mRNA expression in the cingulate and prefrontal cortices of subjects diagnosed with schizophrenia or affective disorders
    • Peckys, D. & Hurd, Y. L. Prodynorphin and ? opioid receptor mRNA expression in the cingulate and prefrontal cortices of subjects diagnosed with schizophrenia or affective disorders. Brain Res. Bull. 55, 619-624 (2001).
    • (2001) Brain Res. Bull , vol.55 , pp. 619-624
    • Peckys, D.1    Hurd, Y.L.2
  • 76
    • 0036156977 scopus 로고    scopus 로고
    • A functional polymorphisms in the prodynorphin gene promoter is associated with temporal lobe epilepsy
    • Stogmann, E. et al. A functional polymorphisms in the prodynorphin gene promoter is associated with temporal lobe epilepsy. Ann. Neurol. 51, 260-263 (2002).
    • (2002) Ann. Neurol , vol.51 , pp. 260-263
    • Stogmann, E.1
  • 77
    • 0036036648 scopus 로고    scopus 로고
    • Allelic variation in the human prodynorphin gene promoter and schizophrenia
    • Ventriglia, M. et al. Allelic variation in the human prodynorphin gene promoter and schizophrenia. Neuropsychobiology 46, 17-21 (2002).
    • (2002) Neuropsychobiology , vol.46 , pp. 17-21
    • Ventriglia, M.1
  • 79
    • 0035901605 scopus 로고    scopus 로고
    • The molecular basis of an avian plumage polymorphism in the wild: A melanocortin-1-receptor point mutation is perfectly associated with the melanic plumage morph of the bananaquit
    • Theron, E., Hawkins, K., Bermingham, E., Ricklefs, R. E. & Mundy, N. I. The molecular basis of an avian plumage polymorphism in the wild: a melanocortin-1-receptor point mutation is perfectly associated with the melanic plumage morph of the bananaquit, Coereba flaveola. Curr. Biol. 11, 550-557 (2001).
    • (2001) Coereba flaveola. Curr. Biol , vol.11 , pp. 550-557
    • Theron, E.1    Hawkins, K.2    Bermingham, E.3    Ricklefs, R.E.4    Mundy, N.I.5
  • 80
    • 33646393786 scopus 로고    scopus 로고
    • Basal relationships in the Drosophila melanogaster species group
    • Kopp, A. Basal relationships in the Drosophila melanogaster species group. Mol. Phylogenet. Evol. 39, 787-798 (2006).
    • (2006) Mol. Phylogenet. Evol , vol.39 , pp. 787-798
    • Kopp, A.1
  • 81
    • 0036479030 scopus 로고    scopus 로고
    • Identification of a variant associated with adult-type hypolactasia
    • Enattah, N. S. et al. Identification of a variant associated with adult-type hypolactasia. Nature Genet. 30, 233-237 (2002).
    • (2002) Nature Genet , vol.30 , pp. 233-237
    • Enattah, N.S.1
  • 82
    • 34547844793 scopus 로고    scopus 로고
    • AVPR1a and SLC6A4 gene polymorphisms are associated with creative dance performance
    • Bachner-Melman, R. et al. AVPR1a and SLC6A4 gene polymorphisms are associated with creative dance performance. PLoS Genet. 1, e42 (2005).
    • (2005) PLoS Genet , vol.1
    • Bachner-Melman, R.1
  • 83
    • 20644472668 scopus 로고    scopus 로고
    • Microsatellite instability generates diversity in brain and sociobehavioral traits
    • Hammock, E. A. & Young, L. J. Microsatellite instability generates diversity in brain and sociobehavioral traits. Science 308, 1630-1634 (2005).
    • (2005) Science , vol.308 , pp. 1630-1634
    • Hammock, E.A.1    Young, L.J.2
  • 84
    • 0037183880 scopus 로고    scopus 로고
    • A single p450 allele associated with insecticide resistance in Drosophila
    • Daborn, P. J. et al. A single p450 allele associated with insecticide resistance in Drosophila. Science 297, 2253-2256 (2002).
    • (2002) Science , vol.297 , pp. 2253-2256
    • Daborn, P.J.1
  • 85
    • 14544308018 scopus 로고    scopus 로고
    • Naturally occurring transposable elements disrupt hsp70 promoter function in Drosophila melanogaster
    • Lerman, D. N. & Feder, M. E. Naturally occurring transposable elements disrupt hsp70 promoter function in Drosophila melanogaster. Mol. Biol. Evol. 22, 776-783 (2005).
    • (2005) Mol. Biol. Evol , vol.22 , pp. 776-783
    • Lerman, D.N.1    Feder, M.E.2
  • 86
    • 0037226830 scopus 로고    scopus 로고
    • Modification of heat-shock gene expression in Drosophila melanogaster populations via transposable elements
    • Lerman, D. N., Michalak, P., Helin, A. B., Bettencourt, B. R. & Feder, M. E. Modification of heat-shock gene expression in Drosophila melanogaster populations via transposable elements. Mol. Biol. Evol. 20, 135-144 (2003).
    • (2003) Mol. Biol. Evol , vol.20 , pp. 135-144
    • Lerman, D.N.1    Michalak, P.2    Helin, A.B.3    Bettencourt, B.R.4    Feder, M.E.5
  • 87
    • 0032513763 scopus 로고    scopus 로고
    • 5-HT2A promoter polymorphism -1438G/A, anorexia nervosa, and obsessive-compulsive disorder
    • Enoch, M. A. et al. 5-HT2A promoter polymorphism -1438G/A, anorexia nervosa, and obsessive-compulsive disorder. Lancet 351, 1785-1786 (1998).
    • (1998) Lancet , vol.351 , pp. 1785-1786
    • Enoch, M.A.1
  • 88
    • 8844245601 scopus 로고    scopus 로고
    • Interleukin-10 promoter single-nucleotide polymorphisms as markers for disease susceptibility and disease severity in leprosy
    • Moraes, M. O. et al. Interleukin-10 promoter single-nucleotide polymorphisms as markers for disease susceptibility and disease severity in leprosy. Genes Immun. 5, 592-595 (2004).
    • (2004) Genes Immun , vol.5 , pp. 592-595
    • Moraes, M.O.1
  • 89
    • 14344269583 scopus 로고    scopus 로고
    • Genetic restriction of HIV-1 pathogenesis to AIDS by promoter alleles of IL10
    • Shin, H. D. et al. Genetic restriction of HIV-1 pathogenesis to AIDS by promoter alleles of IL10. Proc. Natl Acad. Sci. USA 97, 14467-14472 (2000).
    • (2000) Proc. Natl Acad. Sci. USA , vol.97 , pp. 14467-14472
    • Shin, H.D.1
  • 90
    • 30144439841 scopus 로고    scopus 로고
    • Interleukin-10 -1082 promoter polymorphism is associated with schizophrenia in a Han Chinese sib-pair study
    • He, G. et al. Interleukin-10 -1082 promoter polymorphism is associated with schizophrenia in a Han Chinese sib-pair study. Neurosci. Lett. 394, 1-4 (2006).
    • (2006) Neurosci. Lett , vol.394 , pp. 1-4
    • He, G.1
  • 91
    • 0033034855 scopus 로고    scopus 로고
    • Evolutionary analysis of TATA-less proximal promoter function
    • Crawford, D. L., Segal, J. A. & Barnett, J. L. Evolutionary analysis of TATA-less proximal promoter function. Mol. Biol. Evol. 16, 194-207 (1999).
    • (1999) Mol. Biol. Evol , vol.16 , pp. 194-207
    • Crawford, D.L.1    Segal, J.A.2    Barnett, J.L.3
  • 92
    • 0037008485 scopus 로고    scopus 로고
    • Role of genotype in the cycle of violence in maltreated children
    • Caspi, A. et al. Role of genotype in the cycle of violence in maltreated children. Science 297, 851-854 (2002).
    • (2002) Science , vol.297 , pp. 851-854
    • Caspi, A.1
  • 93
    • 33748927438 scopus 로고    scopus 로고
    • Kim-Cohen, J. et al. MAOA, maltreatment, and gene-environment interaction predicting children's mental health: new evidence and a meta-analysis. Mol. Psychiatry 11, 903-913 (2006).
    • Kim-Cohen, J. et al. MAOA, maltreatment, and gene-environment interaction predicting children's mental health: new evidence and a meta-analysis. Mol. Psychiatry 11, 903-913 (2006).
  • 94
    • 0038309412 scopus 로고    scopus 로고
    • Influences of matrix metalloproteinase-3 gene variation on extent of coronary atherosclerosis and risk of myocardial infarction
    • Beyzade, S. et al. Influences of matrix metalloproteinase-3 gene variation on extent of coronary atherosclerosis and risk of myocardial infarction. J. Am. Coll. Cardiol. 41, 2130-2137 (2003).
    • (2003) J. Am. Coll. Cardiol , vol.41 , pp. 2130-2137
    • Beyzade, S.1
  • 95
    • 15844406034 scopus 로고    scopus 로고
    • Progression of coronary atherosclerosis is associated with a common genetic variant of the human stromelysin-1 promoter which results in reduced gene expression
    • Ye, S. et al. Progression of coronary atherosclerosis is associated with a common genetic variant of the human stromelysin-1 promoter which results in reduced gene expression. J. Biol. Chem. 271, 13055-13060 (1996).
    • (1996) J. Biol. Chem , vol.271 , pp. 13055-13060
    • Ye, S.1
  • 96
    • 33845489511 scopus 로고    scopus 로고
    • Two or four bristles: Functional evolution of an enhancer of scute in drosophilidae
    • Marcellini, S. & Simpson, P. Two or four bristles: functional evolution of an enhancer of scute in drosophilidae. PLoS Biol. 4, e386 (2006).
    • (2006) PLoS Biol , vol.4
    • Marcellini, S.1    Simpson, P.2
  • 97
    • 0037135137 scopus 로고    scopus 로고
    • Serotonin transporter genetic variation and the response of the human amygdala
    • Hariri, A. R. et al. Serotonin transporter genetic variation and the response of the human amygdala. Science 297, 400-403 (2002).
    • (2002) Science , vol.297 , pp. 400-403
    • Hariri, A.R.1
  • 98
    • 0034486068 scopus 로고    scopus 로고
    • Natal dispersal in rhesus macaques is related to serotonin transporter gene promoter variation
    • Trefilov, A., Berard, J., Krawczak, M. & Schmidtke, J. Natal dispersal in rhesus macaques is related to serotonin transporter gene promoter variation. Behav. Genet. 30, 295-301 (2000).
    • (2000) Behav. Genet , vol.30 , pp. 295-301
    • Trefilov, A.1    Berard, J.2    Krawczak, M.3    Schmidtke, J.4
  • 99
    • 33646368697 scopus 로고    scopus 로고
    • A distant upstream enhancer at the maize domestication gene tb1 has pleiotropic effects on plant and inflorescent architecture
    • Clark, R. M., Wagler, T. N., Quijada, P. & Doebley, J. A distant upstream enhancer at the maize domestication gene tb1 has pleiotropic effects on plant and inflorescent architecture. Nature Genet. 38, 594-597 (2006).
    • (2006) Nature Genet , vol.38 , pp. 594-597
    • Clark, R.M.1    Wagler, T.N.2    Quijada, P.3    Doebley, J.4
  • 100
    • 0033580401 scopus 로고    scopus 로고
    • The limits of selection during maize domestication
    • Wang, R. L., Stec, A., Hey, J., Lukens, L. & Doebley, J. The limits of selection during maize domestication. Nature 398, 236-239 (1999).
    • (1999) Nature , vol.398 , pp. 236-239
    • Wang, R.L.1    Stec, A.2    Hey, J.3    Lukens, L.4    Doebley, J.5
  • 101
    • 0032480981 scopus 로고    scopus 로고
    • A role of Ultrabithorax in morphological differences between Drosophila species
    • Stern, D. L. A role of Ultrabithorax in morphological differences between Drosophila species. Nature 396, 463-466 (1998).
    • (1998) Nature , vol.396 , pp. 463-466
    • Stern, D.L.1
  • 102
    • 33644766962 scopus 로고    scopus 로고
    • cis-regulatory sequence within the yellow locus of Drosophila melanogaster required for normal male mating success
    • Drapeau, M. D., Cyran, S. A., Viering, M. M., Geyer, P. K. & Long, A. D. A cis-regulatory sequence within the yellow locus of Drosophila melanogaster required for normal male mating success. Genetics 172, 1009-1030 (2006).
    • (2006) Genetics , vol.172 , pp. 1009-1030
    • Drapeau, M.D.1    Cyran, S.A.2    Viering, M.M.3    Geyer, P.K.4    Long, A.D.A.5
  • 103
    • 15044364239 scopus 로고    scopus 로고
    • Regulatory polymorphisms underlying complex disease traits
    • Knight, J. C. Regulatory polymorphisms underlying complex disease traits. J. Mol. Med. 83, 97-109 (2005).
    • (2005) J. Mol. Med , vol.83 , pp. 97-109
    • Knight, J.C.1
  • 104
    • 0036855185 scopus 로고    scopus 로고
    • Abundant raw material for cis-regulatory evolution in humans
    • Rockman, M. V. & Wray, G. A. Abundant raw material for cis-regulatory evolution in humans. Mol. Biol. Evol. 19, 1991-2004 (2002).
    • (2002) Mol. Biol. Evol , vol.19 , pp. 1991-2004
    • Rockman, M.V.1    Wray, G.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.