메뉴 건너뛰기




Volumn 37, Issue , 2003, Pages 197-219

Genetics of Lactase Persistence and Lactose Intolerance

Author keywords

Developmental decline; Functional DNA element; Milk; Polymorphism; Population distribution

Indexed keywords

GLUCOSIDE; GLYCOSYLCERAMIDASE; LACTASE; MESSENGER RNA; MICROSATELLITE DNA; PLANT GLYCOSIDE;

EID: 0347416709     PISSN: 00664197     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.genet.37.110801.143820     Document Type: Review
Times cited : (410)

References (91)
  • 1
    • 0027959330 scopus 로고
    • Did malaria select for primary adult lactase deficiency?
    • Anderson B, Vullo C. 1994. Did malaria select for primary adult lactase deficiency? Gut 35:1487-89
    • (1994) Gut , vol.35 , pp. 1487-1489
    • Anderson, B.1    Vullo, C.2
  • 3
    • 0034531969 scopus 로고    scopus 로고
    • Differential mechanism-based labeling and unequivocal activity assignment of the two active sites of intestinal lactase/phlorizin hydrolase
    • Arribas JC, Herrero AG, Martin-Lomas M, Canada FJ, He S, et al. 2000. Differential mechanism-based labeling and unequivocal activity assignment of the two active sites of intestinal lactase/phlorizin hydrolase. Eur. J. Biochem. 267:6996-7005
    • (2000) Eur. J. Biochem. , vol.267 , pp. 6996-7005
    • Arribas, J.C.1    Herrero, A.G.2    Martin-Lomas, M.3    Canada, F.J.4    He, S.5
  • 5
    • 0024227252 scopus 로고
    • Effect of lactose hydrolysis on calcium absorption during duodenal milk perfusion
    • Birlouez-Aragon I. 1988. Effect of lactose hydrolysis on calcium absorption during duodenal milk perfusion. Reprod. Nutr. Dev. 28:1465-72
    • (1988) Reprod. Nutr. Dev. , vol.28 , pp. 1465-1472
    • Birlouez-Aragon, I.1
  • 7
    • 0025882118 scopus 로고
    • Structure of the chromosomal gene and cDNAs coding for lactase-phlorizin hydrolase in humans with adult-type hypolactasia or persistence of lactase
    • Boll W, Wagner P, Mantei N. 1991. Structure of the chromosomal gene and cDNAs coding for lactase-phlorizin hydrolase in humans with adult-type hypolactasia or persistence of lactase. Am. J. Hum. Genet. 48:889-902
    • (1991) Am. J. Hum. Genet. , vol.48 , pp. 889-902
    • Boll, W.1    Wagner, P.2    Mantei, N.3
  • 8
    • 0010106732 scopus 로고    scopus 로고
    • Regulation of human lactase phlorizin hydrolase (LPH) gene by proteins binding to sites 5′ to the Alu sequence
    • Chitkara DK, Krasinski SD, Grand RJ, Montgomery RK. 2001. Regulation of human lactase phlorizin hydrolase (LPH) gene by proteins binding to sites 5′ to the Alu sequence. Gastroenterology 120:A304
    • (2001) Gastroenterology , vol.120
    • Chitkara, D.K.1    Krasinski, S.D.2    Grand, R.J.3    Montgomery, R.K.4
  • 9
    • 0142069606 scopus 로고
    • Did persistence of intestinal lactase into adult life originate in the Arabian peninsula?
    • Cook GC. 1978. Did persistence of intestinal lactase into adult life originate in the Arabian peninsula? Man 13:418-27
    • (1978) Man , vol.13 , pp. 418-427
    • Cook, G.C.1
  • 10
    • 0016781834 scopus 로고
    • High intestinal lactase concentrations in adult Arabs in Saudi Arabia
    • Cook GC, Al-Torki MT. 1975. High intestinal lactase concentrations in adult Arabs in Saudi Arabia. Br. Med. J. 3:135-36
    • (1975) Br. Med. J. , vol.3 , pp. 135-136
    • Cook, G.C.1    Al-Torki, M.T.2
  • 14
    • 0028327817 scopus 로고
    • The polymorphic expression of lactase in adults is regulated at the messenger RNA level
    • Fajardo O, Naim HY, Lacey SW. 1994. The polymorphic expression of lactase in adults is regulated at the messenger RNA level. Gastroenterology 106:1233-41
    • (1994) Gastroenterology , vol.106 , pp. 1233-1241
    • Fajardo, O.1    Naim, H.Y.2    Lacey, S.W.3
  • 16
    • 0000215804 scopus 로고
    • On the theory of evolution under genetic and cultural transmission with application to the lactose absorption problem
    • ed. MW Feldman, Princeton: Princeton Univ. Press
    • Feldman MW, Cavalli-Svorza LL. 1989. On the theory of evolution under genetic and cultural transmission with application to the lactose absorption problem. In Mathematical Evolutionary Theory, ed. MW Feldman, pp. 145. Princeton: Princeton Univ. Press
    • (1989) Mathematical Evolutionary Theory , pp. 145
    • Feldman, M.W.1    Cavalli-Svorza, L.L.2
  • 17
    • 0031951707 scopus 로고    scopus 로고
    • GATA-6 stimulates a cell line-specific activation element in the human lactase promoter
    • Fitzgerald K, Bazar L, Avigan MI. 1998. GATA-6 stimulates a cell line-specific activation element in the human lactase promoter. Am. J. Physiol. 274:G314-24
    • (1998) Am. J. Physiol. , vol.274
    • Fitzgerald, K.1    Bazar, L.2    Avigan, M.I.3
  • 18
    • 0021332361 scopus 로고
    • Gene dosage effect on intestinal lactase activity demonstrated in vivo
    • Flatz G. 1984. Gene dosage effect on intestinal lactase activity demonstrated in vivo. Am. J. Hum. Genet. 36:306-10
    • (1984) Am. J. Hum. Genet. , vol.36 , pp. 306-310
    • Flatz, G.1
  • 19
    • 0015178343 scopus 로고
    • Evidence against nutritional adaption to tolerance to lactase
    • Flatz G, Rotthauwe HW. 1971. Evidence against nutritional adaption to tolerance to lactase. Humangenetik 13:118-25
    • (1971) Humangenetik , vol.13 , pp. 118-125
    • Flatz, G.1    Rotthauwe, H.W.2
  • 21
    • 0023808609 scopus 로고
    • Expression of the ABH, Lewis, related antigens on the glycoproteins of the human jejunal brush border
    • Green FR, Greenwell P, Dickson L, Griffiths B, Noades J, et al. 1988. Expression of the ABH, Lewis, related antigens on the glycoproteins of the human jejunal brush border. Subcell. Biochem. 12:119-53
    • (1988) Subcell. Biochem. , vol.12 , pp. 119-153
    • Green, F.R.1    Greenwell, P.2    Dickson, L.3    Griffiths, B.4    Noades, J.5
  • 22
    • 0023942909 scopus 로고
    • Use of immunocytochemical analysis of a duodenal biopsy specimen to identify a carrier of ornithine transcarbamylase deficiency
    • Hamano Y, Kodama H, Fujikawa Y, Tanaka Y, Nishimura K, et al. 1988. Use of immunocytochemical analysis of a duodenal biopsy specimen to identify a carrier of ornithine transcarbamylase deficiency. New Engl. J. Med. 318:1521-23
    • (1988) New Engl. J. Med. , vol.318 , pp. 1521-1523
    • Hamano, Y.1    Kodama, H.2    Fujikawa, Y.3    Tanaka, Y.4    Nishimura, K.5
  • 23
    • 0027421312 scopus 로고
    • Regional localization of the lactase-phlorizin hydrolase gene, LCT, to chromosome 2q21
    • Harvey CB, Fox MF, Jeggo PA, Mantei N, Povey S, et al. 1993. Regional localization of the lactase-phlorizin hydrolase gene, LCT, to chromosome 2q21. Ann. Hum. Genet. 57:179-85
    • (1993) Ann. Hum. Genet. , vol.57 , pp. 179-185
    • Harvey, C.B.1    Fox, M.F.2    Jeggo, P.A.3    Mantei, N.4    Povey, S.5
  • 24
    • 0031717707 scopus 로고    scopus 로고
    • Lactase haplotype frequencies in Caucasians: Association with the lactase persistence/non-persistence polymorphism
    • Harvey CB, Hollox EJ, Poulter M, Wang Y, Rossi M, et al. 1998. Lactase haplotype frequencies in Caucasians: association with the lactase persistence/non-persistence polymorphism. Ann. Hum. Genet. 62:215-23
    • (1998) Ann. Hum. Genet. , vol.62 , pp. 215-223
    • Harvey, C.B.1    Hollox, E.J.2    Poulter, M.3    Wang, Y.4    Rossi, M.5
  • 26
    • 0030566803 scopus 로고    scopus 로고
    • Characterisation of a human homologue of a yeast cell division cycle gene, MCM6, located adjacent to the 5′ end of the lactase gene on chromosome 2q21
    • Harvey CB, Wang Y, Darmoul D, Phillips A, Mantei N, et al. 1996. Characterisation of a human homologue of a yeast cell division cycle gene, MCM6, located adjacent to the 5′ end of the lactase gene on chromosome 2q21. FEBS Lett. 398:135-40
    • (1996) FEBS Lett. , vol.398 , pp. 135-140
    • Harvey, C.B.1    Wang, Y.2    Darmoul, D.3    Phillips, A.4    Mantei, N.5
  • 27
    • 0028815914 scopus 로고
    • Studies on the expression of intestinal lactase in different individuals
    • Harvey CB, Wang Y, Hughes LA, Swallow DM, Thurrell WP, et al. 1995. Studies on the expression of intestinal lactase in different individuals. Gut 36:28-33
    • (1995) Gut , vol.36 , pp. 28-33
    • Harvey, C.B.1    Wang, Y.2    Hughes, L.A.3    Swallow, D.M.4    Thurrell, W.P.5
  • 28
    • 0019973492 scopus 로고
    • Lactase polymorphism in adult British natives: Estimating allele frequencies by enzyme assays in autopsy samples
    • Ho MW, Povey S, Swallow D. 1982. Lactase polymorphism in adult British natives: estimating allele frequencies by enzyme assays in autopsy samples. Am. J. Hum. Genet. 34:650-57
    • (1982) Am. J. Hum. Genet. , vol.34 , pp. 650-657
    • Ho, M.W.1    Povey, S.2    Swallow, D.3
  • 29
    • 0031259976 scopus 로고    scopus 로고
    • Phylogenetic analysis of the evolution of lactose digestion in adults
    • Holden C, Mace R. 1997. Phylogenetic analysis of the evolution of lactose digestion in adults. Hum. Biol. 69:605-28
    • (1997) Hum. Biol. , vol.69 , pp. 605-628
    • Holden, C.1    Mace, R.2
  • 30
    • 0032722506 scopus 로고    scopus 로고
    • Common polymorphism in a highly variable region upstream of the human lactase gene affects DNA-protein interactions
    • Hollox EJ, Poulter M, Wang Y, Krause A, Swallow DM. 1999. Common polymorphism in a highly variable region upstream of the human lactase gene affects DNA-protein interactions. Eur. J. Hum. Genet. 7:791-800
    • (1999) Eur. J. Hum. Genet. , vol.7 , pp. 791-800
    • Hollox, E.J.1    Poulter, M.2    Wang, Y.3    Krause, A.4    Swallow, D.M.5
  • 32
    • 0015256928 scopus 로고
    • A simple screening method for lactose malabsorption
    • Isokoski M, Jussila J, Sarna S. 1972. A simple screening method for lactose malabsorption. Gastroenterology 62:28-32
    • (1972) Gastroenterology , vol.62 , pp. 28-32
    • Isokoski, M.1    Jussila, J.2    Sarna, S.3
  • 33
    • 0029155988 scopus 로고
    • Folding of human intestinal lactase-phlorizin hydrolase
    • Jacob R, Bulleid NJ, Naim HY. 1995. Folding of human intestinal lactase-phlorizin hydrolase. J. Biol. Chem. 270:18678-84
    • (1995) J. Biol. Chem. , vol.270 , pp. 18678-18684
    • Jacob, R.1    Bulleid, N.J.2    Naim, H.Y.3
  • 34
    • 0037040930 scopus 로고    scopus 로고
    • The prosequence of human lactase-phlorizin hydrolase modulates the folding of the mature enzyme
    • Jacob R, Peters K, Naim HY. 2002. The prosequence of human lactase-phlorizin hydrolase modulates the folding of the mature enzyme. J. Biol. Chem. 277:8217-25
    • (2002) J. Biol. Chem. , vol.277 , pp. 8217-8225
    • Jacob, R.1    Peters, K.2    Naim, H.Y.3
  • 35
    • 1642586712 scopus 로고    scopus 로고
    • Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene
    • Jarvela I, Enattah NS, Kokkonen J, Varilo T, Savilahti E, et al. 1998. Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene. Am. J. Hum. Genet. 63:1078-85
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 1078-1085
    • Jarvela, I.1    Enattah, N.S.2    Kokkonen, J.3    Varilo, T.4    Savilahti, E.5
  • 36
    • 0028818924 scopus 로고
    • Furin, PC1/3, and/or PC6A process rabbit, but not human, prolactase-phlorizin hydrolase to the 180-kDa intermediate
    • Keller P, Zecca L, Boukamel R, Zwicker E, Gloor S, et al. 1995. Furin, PC1/3, and/or PC6A process rabbit, but not human, prolactase-phlorizin hydrolase to the 180-kDa intermediate. J. Biol. Chem. 270:25722-28
    • (1995) J. Biol. Chem. , vol.270 , pp. 25722-25728
    • Keller, P.1    Zecca, L.2    Boukamel, R.3    Zwicker, E.4    Gloor, S.5
  • 38
    • 0030752589 scopus 로고    scopus 로고
    • Rat lactase-phlorizin hydrolase/human growth hormone transgene is expressed on small intestinal villi in transgenic mice
    • Krasinski SD, Upchurch BH, Irons SJ, June RM, Mishra K, et al. 1997. Rat lactase-phlorizin hydrolase/human growth hormone transgene is expressed on small intestinal villi in transgenic mice. Gastroenterology 113:844-55
    • (1997) Gastroenterology , vol.113 , pp. 844-855
    • Krasinski, S.D.1    Upchurch, B.H.2    Irons, S.J.3    June, R.M.4    Mishra, K.5
  • 40
    • 0038476614 scopus 로고    scopus 로고
    • Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia
    • Kuokkanen M, Enattah NS, Oksanen A, Savilahti E, Orpana A, et al. 2003. Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia. Gut 52:647-52
    • (2003) Gut , vol.52 , pp. 647-652
    • Kuokkanen, M.1    Enattah, N.S.2    Oksanen, A.3    Savilahti, E.4    Orpana, A.5
  • 41
    • 0037066758 scopus 로고    scopus 로고
    • Regulation of intestine-specific spatiotemporal expression by the rat lactase promoter
    • Lee SY, Wang Z, Lin CK, Contag CH, Olds LC, et al. 2002. Regulation of intestine-specific spatiotemporal expression by the rat lactase promoter. J. Biol. Chem. 277:13099-105
    • (2002) J. Biol. Chem. , vol.277 , pp. 13099-13105
    • Lee, S.Y.1    Wang, Z.2    Lin, C.K.3    Contag, C.H.4    Olds, L.C.5
  • 42
    • 0016839521 scopus 로고
    • Recessive inheritance of the adult type of intestinal lactase deficiency
    • Lisker R, Gonzalez B, Daltabuit M. 1975. Recessive inheritance of the adult type of intestinal lactase deficiency. Am. J. Hum. Genet. 27:662-64
    • (1975) Am. J. Hum. Genet. , vol.27 , pp. 662-664
    • Lisker, R.1    Gonzalez, B.2    Daltabuit, M.3
  • 44
    • 0037178825 scopus 로고    scopus 로고
    • Enzymatic hydrolysis of pyridoxine-5′-beta-D-glucoside is catalyzed by intestinal lactase-phlorizin hydrolase
    • Mackey AD, Henderson GN, Gregory JF 3rd. 2002. Enzymatic hydrolysis of pyridoxine-5′-beta-D-glucoside is catalyzed by intestinal lactase-phlorizin hydrolase. J. Biol. Chem. 277:26858-64
    • (2002) J. Biol. Chem. , vol.277 , pp. 26858-26864
    • Mackey, A.D.1    Henderson, G.N.2    Gregory III, J.F.3
  • 45
    • 0026069545 scopus 로고
    • Mosaic pattern of lactase expression by villous enterocytes in human adult-type hypolactasia
    • Maiuri L, Raia V, Potter J, Swallow D, Ho MW, et al. 1991. Mosaic pattern of lactase expression by villous enterocytes in human adult-type hypolactasia. Gastroenterology 100:359-69
    • (1991) Gastroenterology , vol.100 , pp. 359-369
    • Maiuri, L.1    Raia, V.2    Potter, J.3    Swallow, D.4    Ho, M.W.5
  • 47
    • 0024076253 scopus 로고
    • Complete primary structure of human and rabbit lactase-phlorizin hydrolase: Implications for biosynthesis, membrane anchoring and evolution of the enzyme
    • Mantei N, Villa M, Enzler T, Wacker H, Boll W, et al. 1988. Complete primary structure of human and rabbit lactase-phlorizin hydrolase: implications for biosynthesis, membrane anchoring and evolution of the enzyme. EMBO J. 7:2705-13
    • (1988) EMBO J. , vol.7 , pp. 2705-2713
    • Mantei, N.1    Villa, M.2    Enzler, T.3    Wacker, H.4    Boll, W.5
  • 48
    • 0033358667 scopus 로고    scopus 로고
    • Assessment of linkage disequilibrium by the decay of haplotype sharing, with application to finescale genetic mapping
    • McPeek MS, Strahs A. 1999. Assessment of linkage disequilibrium by the decay of haplotype sharing, with application to finescale genetic mapping. Am. J. Hum. Genet. 65:858-75
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 858-875
    • McPeek, M.S.1    Strahs, A.2
  • 49
    • 0032491591 scopus 로고    scopus 로고
    • Processing of human intestinal prolactase to an intermediate form by furin or by a furin-like proprotein convertase
    • Mesonero JE, Gloor SM, Semenza G. 1998. Processing of human intestinal prolactase to an intermediate form by furin or by a furin-like proprotein convertase. J. Biol. Chem. 273:29430-36
    • (1998) J. Biol. Chem. , vol.273 , pp. 29430-29436
    • Mesonero, J.E.1    Gloor, S.M.2    Semenza, G.3
  • 50
    • 0021690042 scopus 로고
    • A study of lactose absorption capacity in twins
    • Metneki J, Czeizel A, Flatz S, Flatz G. 1984. A study of lactose absorption capacity in twins. Hum. Genet. 67:296-300
    • (1984) Hum. Genet. , vol.67 , pp. 296-300
    • Metneki, J.1    Czeizel, A.2    Flatz, S.3    Flatz, G.4
  • 51
    • 0034163801 scopus 로고    scopus 로고
    • Interaction between the homeodomain proteins Cdx2 and HNF1 alpha mediates expression of the lactase-phlorizin hydrolase gene
    • Mitchelmore C, Troelsen JT, Spodsberg N, Sjostrom H, Noren O. 2000. Interaction between the homeodomain proteins Cdx2 and HNF1 alpha mediates expression of the lactase-phlorizin hydrolase gene. Biochem. J. 346(Part 2):529-35
    • (2000) Biochem. J. , vol.346 , Issue.2 PART , pp. 529-535
    • Mitchelmore, C.1    Troelsen, J.T.2    Spodsberg, N.3    Sjostrom, H.4    Noren, O.5
  • 52
    • 0025876183 scopus 로고
    • Lactose intolerance and the genetic regulation of intestinal lactase-phlorizin hydrolase
    • Montgomery RK, Büller HA, Rings EHHM, Grand RJ. 1991. Lactose intolerance and the genetic regulation of intestinal lactase-phlorizin hydrolase. FASEB J. 5:2824-32
    • (1991) FASEB J. , vol.5 , pp. 2824-2832
    • Montgomery, R.K.1    Büller, H.A.2    Rings, E.H.H.M.3    Grand, R.J.4
  • 53
    • 0029281959 scopus 로고
    • The pro-region of human intestinal lactase-phlorizin hydrolase is enzymatically inactive towards lactose
    • Naim HY. 1995. The pro-region of human intestinal lactase-phlorizin hydrolase is enzymatically inactive towards lactose. Biol. Chem. Hoppe-Seyler 376:255-58
    • (1995) Biol. Chem. Hoppe-Seyler , vol.376 , pp. 255-258
    • Naim, H.Y.1
  • 55
    • 0026491215 scopus 로고
    • Impact of O-glycosylation on the function of human intestinal lactase-phlorizin hydrolase. Characterization of glycoforms varying in enzyme activity and localization of O-glycoside addition
    • Naim HY, Lentze MJ. 1992. Impact of O-glycosylation on the function of human intestinal lactase-phlorizin hydrolase. Characterization of glycoforms varying in enzyme activity and localization of O-glycoside addition. J. Biol. Chem. 267:25494-504
    • (1992) J. Biol. Chem. , vol.267 , pp. 25494-25504
    • Naim, H.Y.1    Lentze, M.J.2
  • 56
    • 0022511288 scopus 로고
    • Genetic relationship of human populations and ethnic differences in relation to drugs and food
    • ed. W Kalow, HW Goedde, DP Agarwal, New York: Alan R Liss
    • Nei M, Saitou N. 1986. Genetic relationship of human populations and ethnic differences in relation to drugs and food. In Ethnic Differences in Reactions to Drugs and Other Xenobiotics, ed. W Kalow, HW Goedde, DP Agarwal, pp. 21-37. New York: Alan R Liss
    • (1986) Ethnic Differences in Reactions to Drugs and Other Xenobiotics , pp. 21-37
    • Nei, M.1    Saitou, N.2
  • 57
    • 0037219688 scopus 로고    scopus 로고
    • Deglycosylation by small intestinal epithelial cell beta-glucosidases is a critical step in the absorption and metabolism of dietary flavonoid glycosides in humans
    • Nemeth K, Plumb GW, Berrin JG, Juge N, Jacob R, et al. 2003. Deglycosylation by small intestinal epithelial cell beta-glucosidases is a critical step in the absorption and metabolism of dietary flavonoid glycosides in humans. Eur. J. Nutr. 42:29-42
    • (2003) Eur. J. Nutr. , vol.42 , pp. 29-42
    • Nemeth, K.1    Plumb, G.W.2    Berrin, J.G.3    Juge, N.4    Jacob, R.5
  • 58
    • 0013963615 scopus 로고
    • Distribution of disaccharidase activity in the small bowel of normal and lactase-deficient subjects
    • Newcomer A, McGill D. 1966. Distribution of disaccharidase activity in the small bowel of normal and lactase-deficient subjects. Gastroenterology 51:481-88
    • (1966) Gastroenterology , vol.51 , pp. 481-488
    • Newcomer, A.1    McGill, D.2
  • 59
    • 0027497114 scopus 로고
    • The pro sequence of lactase-phlorizin hydrolase is required for the enzyme to reach the plasma membrane. An intramolecular chaperone?
    • Oberholzer T, Mantei N, Semenza G. 1993. The pro sequence of lactase-phlorizin hydrolase is required for the enzyme to reach the plasma membrane. An intramolecular chaperone? FEBS Lett. 333:127-31
    • (1993) FEBS Lett. , vol.333 , pp. 127-131
    • Oberholzer, T.1    Mantei, N.2    Semenza, G.3
  • 61
    • 0031801662 scopus 로고    scopus 로고
    • Comparison of a portable breath hydrogen analyser (Micro H2) with a Quintron MicroLyzer in measuring lactose maldigestion, and the evaluation of a Micro H2 for diagnosing hypolactasia
    • Peuhkuri K, Poussa T, Korpela R. 1998. Comparison of a portable breath hydrogen analyser (Micro H2) with a Quintron MicroLyzer in measuring lactose maldigestion, and the evaluation of a Micro H2 for diagnosing hypolactasia. Scand. J. Clin. Lab. Invest. 58:217-24
    • (1998) Scand. J. Clin. Lab. Invest. , vol.58 , pp. 217-224
    • Peuhkuri, K.1    Poussa, T.2    Korpela, R.3
  • 62
    • 0344375110 scopus 로고    scopus 로고
    • The causal element for the lactase persistence/non-persistence polymorphism is located in a 1Mb region of linkage disequilibrium in Europeans
    • Poulter M, Hollox E, Harvey CB, Mulcare CM, Peuhkuri K, et al. 2003. The causal element for the lactase persistence/non-persistence polymorphism is located in a 1Mb region of linkage disequilibrium in Europeans. Ann. Hum. Genet. 67:298-311
    • (2003) Ann. Hum. Genet. , vol.67 , pp. 298-311
    • Poulter, M.1    Hollox, E.2    Harvey, C.B.3    Mulcare, C.M.4    Peuhkuri, K.5
  • 63
    • 25344474886 scopus 로고
    • Über die Resorption und die fermentative Spaltung der Disaccharide im Dünndarm des ausgewachsenen Hundes
    • Röhmann F, Nagano J. 1903. Über die Resorption und die fermentative Spaltung der Disaccharide im Dünndarm des ausgewachsenen Hundes. Arch. Ges. Physiol. 95:533-605
    • (1903) Arch. Ges. Physiol. , vol.95 , pp. 533-605
    • Röhmann, F.1    Nagano, J.2
  • 64
    • 0030936284 scopus 로고    scopus 로고
    • Lactase persistence versus decline in human adults: Multifactorial events are involved in down-regulation after weaning
    • Rossi M, Maiuri L, Fusco MI, Salvati VM, Fuccio A, et al. 1997. Lactase persistence versus decline in human adults: Multifactorial events are involved in down-regulation after weaning. Gastroenterology 112:1506-14
    • (1997) Gastroenterology , vol.112 , pp. 1506-1514
    • Rossi, M.1    Maiuri, L.2    Fusco, M.I.3    Salvati, V.M.4    Fuccio, A.5
  • 65
    • 0346191779 scopus 로고    scopus 로고
    • Deleted in proof
    • Deleted in proof
  • 66
    • 0016200992 scopus 로고
    • The inheritance of selective adult-type lactose malabsorption
    • Sahi T. 1974. The inheritance of selective adult-type lactose malabsorption. Scand. J. Gastroenterol. 9:1-73
    • (1974) Scand. J. Gastroenterol. , vol.9 , pp. 1-73
    • Sahi, T.1
  • 67
    • 0020565593 scopus 로고
    • Hypolactasia in a fixed cohort of young Finnish adults, a follow-up study
    • Sahi T, Launiala K, Laitinen H. 1983. Hypolactasia in a fixed cohort of young Finnish adults, a follow-up study. Scand. J. Gastroenterol. 18:865-70
    • (1983) Scand. J. Gastroenterol. , vol.18 , pp. 865-870
    • Sahi, T.1    Launiala, K.2    Laitinen, H.3
  • 68
    • 0020534236 scopus 로고
    • Congenital lactase deficiency. A clinical study on 16 patients
    • Savilahti E, Launiala K, Kuitunen P. 1983. Congenital lactase deficiency. A clinical study on 16 patients. Arch. Dis. Child. 58:246-52
    • (1983) Arch. Dis. Child. , vol.58 , pp. 246-252
    • Savilahti, E.1    Launiala, K.2    Kuitunen, P.3
  • 69
    • 0024421045 scopus 로고
    • Control of lactase in human adult-type hypolactasia and in weaning rabbits and rats
    • Sebastio G, Villa M, Sartorio R, Guzzetta V, Poggi V et al. 1989. Control of lactase in human adult-type hypolactasia and in weaning rabbits and rats. Am. J. Hum. Genet. 45:489-97
    • (1989) Am. J. Hum. Genet. , vol.45 , pp. 489-497
    • Sebastio, G.1    Villa, M.2    Sartorio, R.3    Guzzetta, V.4    Poggi, V.5
  • 70
    • 0034038294 scopus 로고    scopus 로고
    • Possible connection between milk and coronary heart disease: The calcium hypothesis
    • Seely S. 2000. Possible connection between milk and coronary heart disease: the calcium hypothesis. Med. Hypotheses 54:701-3
    • (2000) Med. Hypotheses , vol.54 , pp. 701-703
    • Seely, S.1
  • 71
    • 0019073964 scopus 로고
    • Age of onset of lactose malabsorption
    • Simoons F. 1980. Age of onset of lactose malabsorption. Pediatrics 66:646-48
    • (1980) Pediatrics , vol.66 , pp. 646-648
    • Simoons, F.1
  • 72
    • 0034089033 scopus 로고    scopus 로고
    • Balancing selection at closely linked, overdominant loci in a finite population
    • Slatkin M. 2000. Balancing selection at closely linked, overdominant loci in a finite population. Genetics 154:1367-78
    • (2000) Genetics , vol.154 , pp. 1367-1378
    • Slatkin, M.1
  • 73
    • 0034976976 scopus 로고    scopus 로고
    • The use of intraallelic variability for testing neutrality and estimating population growth rate
    • Slatkin M, Bertorelle G. 2001. The use of intraallelic variability for testing neutrality and estimating population growth rate. Genetics 158:865-74
    • (2001) Genetics , vol.158 , pp. 865-874
    • Slatkin, M.1    Bertorelle, G.2
  • 74
    • 0032999058 scopus 로고    scopus 로고
    • Transcriptional regulation of pig lactasephlorizin hydrolase: Involvement of HNF-1 and FREACs
    • Spodsberg N, Troelsen JT, Carlsson P, Enerback S, Sjostrom H, et al. 1999. Transcriptional regulation of pig lactasephlorizin hydrolase: involvement of HNF-1 and FREACs. Gastroenterology 116:842-54
    • (1999) Gastroenterology , vol.116 , pp. 842-854
    • Spodsberg, N.1    Troelsen, J.T.2    Carlsson, P.3    Enerback, S.4    Sjostrom, H.5
  • 75
    • 0025066272 scopus 로고
    • Biogenesis of intestinal lactase-phlorizin hydrolase in adults with lactose intolerance. Evidence for reduced biosynthesis and slowed-down maturation in enterocytes
    • Sterchi E, Mills P, Fransen J, Hauri H, Lentze M, et al. 1990. Biogenesis of intestinal lactase-phlorizin hydrolase in adults with lactose intolerance. Evidence for reduced biosynthesis and slowed-down maturation in enterocytes. J. Clin. Invest. 86:1329-37
    • (1990) J. Clin. Invest. , vol.86 , pp. 1329-1337
    • Sterchi, E.1    Mills, P.2    Fransen, J.3    Hauri, H.4    Lentze, M.5
  • 76
    • 0005264308 scopus 로고    scopus 로고
    • The genetic polymorphism of intestinal lactose activity in adult humans
    • ed. CR Scriver, AL Beaudet, WS Sly, D Valle, New York: McGraw-Hill
    • Swallow DM, Hollox EJ. 2000. The genetic polymorphism of intestinal lactose activity in adult humans. In The Metabolic and Molecular Basis of Inherited Disease, ed. CR Scriver, AL Beaudet, WS Sly, D Valle, pp. 1651-62. New York: McGraw-Hill
    • (2000) The Metabolic and Molecular Basis of Inherited Disease , pp. 1651-1662
    • Swallow, D.M.1    Hollox, E.J.2
  • 77
    • 0025353609 scopus 로고
    • Age dependency of the lactase persistence and lactase restriction phenotypes among children in Sri Lanka and Britain
    • Thomas S, Walker-Smith JA, Senewiratne B, Hjelm M. 1990. Age dependency of the lactase persistence and lactase restriction phenotypes among children in Sri Lanka and Britain. J. Trop. Pediatr. 36:80-85
    • (1990) J. Trop. Pediatr. , vol.36 , pp. 80-85
    • Thomas, S.1    Walker-Smith, J.A.2    Senewiratne, B.3    Hjelm, M.4
  • 78
    • 0028350976 scopus 로고
    • 1 kb of the lactase-phlorizin hydrolase promoter directs post-weaning decline and small intestinal-specific expression in transgenic mice
    • Troelsen JT, Mehlum A, Olsen J, Spodsberg N, Hansen GH, et al. 1994. 1 kb of the lactase-phlorizin hydrolase promoter directs post-weaning decline and small intestinal-specific expression in transgenic mice. FEES Lett. 342:291-96
    • (1994) FEES Lett. , vol.342 , pp. 291-296
    • Troelsen, J.T.1    Mehlum, A.2    Olsen, J.3    Spodsberg, N.4    Hansen, G.H.5
  • 79
    • 0037434625 scopus 로고    scopus 로고
    • An enhancer activates the pig lactase phlorizin hydrolase promoter in intestinal cells
    • Troelsen JT, Mitchelmore C, Olsen J. 2003. An enhancer activates the pig lactase phlorizin hydrolase promoter in intestinal cells. Gene 305:101-11
    • (2003) Gene , vol.305 , pp. 101-111
    • Troelsen, J.T.1    Mitchelmore, C.2    Olsen, J.3
  • 80
    • 0028354491 scopus 로고
    • Two intestinal specific nuclear factors binding to the lactase-phlorizin hydrolase and sucrase-somaltase promoters are functionally related oligomeric molecules
    • Troelsen JT, Olsen J, Mitchelmore C, Hansen GH, Sjostrom H, et al. 1994. Two intestinal specific nuclear factors binding to the lactase-phlorizin hydrolase and sucrase-somaltase promoters are functionally related oligomeric molecules. FEBS Lett. 342:297-301
    • (1994) FEBS Lett. , vol.342 , pp. 297-301
    • Troelsen, J.T.1    Olsen, J.2    Mitchelmore, C.3    Hansen, G.H.4    Sjostrom, H.5
  • 81
    • 0037008768 scopus 로고    scopus 로고
    • Physical interaction between GATA-5 and hepatocyte nuclear factor-1alpha results in synergistic activation of the human lactase-phlorizin hydrolase promoter
    • van Wering HM, Huibregtse IL, van der Zwan SM, de Bie MS, Dowling LN, et al. 2002. Physical interaction between GATA-5 and hepatocyte nuclear factor-1alpha results in synergistic activation of the human lactase-phlorizin hydrolase promoter. J. Biol. Chem, 277:27659-67
    • (2002) J. Biol. Chem , vol.277 , pp. 27659-27667
    • Van Wering, H.M.1    Huibregtse, I.L.2    Van Der Zwan, S.M.3    De Bie, M.S.4    Dowling, L.N.5
  • 84
    • 0028111954 scopus 로고
    • Expression of human intestinal mRNA transcripts during development: Analysis by a semiquantitative RNA polymerase chain reaction method
    • Wang Y, Harvey C, Rousset M, Swallow DM. 1994. Expression of human intestinal mRNA transcripts during development: analysis by a semiquantitative RNA polymerase chain reaction method. Pediatr. Res. 36:514-21
    • (1994) Pediatr. Res. , vol.36 , pp. 514-521
    • Wang, Y.1    Harvey, C.2    Rousset, M.3    Swallow, D.M.4
  • 86
    • 0028969249 scopus 로고
    • The lactase persistence/non-persistence polymorphism is controlled by a cis-acting element
    • Wang Y, Harvey CB, Pratt WS, Sams VR, Sarner M, et al. 1995. The lactase persistence/non-persistence polymorphism is controlled by a cis-acting element. Hum. Mol. Genet. 4:657-62
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 657-662
    • Wang, Y.1    Harvey, C.B.2    Pratt, W.S.3    Sams, V.R.4    Sarner, M.5
  • 87
    • 0032478305 scopus 로고    scopus 로고
    • Evolutionary matches of enzyme and transporter capacities to dietary substrate loads in the intestinal brush border
    • Weiss SL, Lee EA, Diamond J. 1998. Evolutionary matches of enzyme and transporter capacities to dietary substrate loads in the intestinal brush border. Proc. Natl. Acad. Sci. USA 95:2117-21
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 2117-2121
    • Weiss, S.L.1    Lee, E.A.2    Diamond, J.3
  • 89
    • 0025711634 scopus 로고
    • Lactose maldigestion - Age specific prevalence in black and Indian children
    • Wittenberg D, Moosa A. 1990. Lactose maldigestion - age specific prevalence in black and Indian children. S. Afr. Med. J. 78:470-72
    • (1990) S. Afr. Med. J. , vol.78 , pp. 470-472
    • Wittenberg, D.1    Moosa, A.2
  • 90
    • 0032725550 scopus 로고    scopus 로고
    • Species differences in the sites of cleavage of pro-lactase to lactase supports lack of selective pressure
    • Zecca L, Mesonero JE, Gloor SM, Semenza G. 1999. Species differences in the sites of cleavage of pro-lactase to lactase supports lack of selective pressure. Biochim. Biophys. Acta 1435:51-60
    • (1999) Biochim. Biophys. Acta , vol.1435 , pp. 51-60
    • Zecca, L.1    Mesonero, J.E.2    Gloor, S.M.3    Semenza, G.4
  • 91
    • 0032544605 scopus 로고    scopus 로고
    • Intestinal lactasephlorizin hydrolase (LPH): The two catalytic sites; the role of the pancreas in pro-LPH maturation
    • Zecca L, Mesonero JE, Stutz A, Poiree JC, Giudicelli J, et al. 1998. Intestinal lactasephlorizin hydrolase (LPH): the two catalytic sites; the role of the pancreas in pro-LPH maturation. FEBS Lett. 435:225-28
    • (1998) FEBS Lett. , vol.435 , pp. 225-228
    • Zecca, L.1    Mesonero, J.E.2    Stutz, A.3    Poiree, J.C.4    Giudicelli, J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.