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Volumn 59, Issue 7, 2007, Pages 427-435

Let's stick together: The role of the Fras1 and Frem proteins in epidermal adhesion

Author keywords

Basement membrane; Bleb mice; Epidermal blistering; Fras1; Fraser syndrome; Frem; Grip1; Kidney defects

Indexed keywords

BLEB PROTEIN; FRAS1 PROTEIN; FREM PROTEIN; SCLEROPROTEIN; UNCLASSIFIED DRUG;

EID: 34547236209     PISSN: 15216543     EISSN: 15216551     Source Type: Journal    
DOI: 10.1080/15216540701510581     Document Type: Review
Times cited : (47)

References (46)
  • 1
    • 33748582926 scopus 로고    scopus 로고
    • Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome
    • Slavotinek, A., Li, C., Sherr, E. H., and Chudley, A. E. (2006) Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. Am. J. Med. Genet. A. 140, 1909-1914.
    • (2006) Am. J. Med. Genet. A , vol.140 , pp. 1909-1914
    • Slavotinek, A.1    Li, C.2    Sherr, E.H.3    Chudley, A.E.4
  • 3
    • 0023767119 scopus 로고
    • Fraser syndrome (cryptophthalmos-syndactyly syndrome): A review of eleven cases with postmortem findings
    • Boyd, P. A., Keeling, J. W., and Lindenbaum, R. H. (1988) Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings. Am. J. Med. Genet. A. 31, 159-168.
    • (1988) Am. J. Med. Genet. A , vol.31 , pp. 159-168
    • Boyd, P.A.1    Keeling, J.W.2    Lindenbaum, R.H.3
  • 4
    • 0025309267 scopus 로고
    • Fraser syndrome and mouse 'bleb' mutants
    • Winter, R. M. (1990) Fraser syndrome and mouse 'bleb' mutants. Clin. Genet. 37, 494-495.
    • (1990) Clin. Genet , vol.37 , pp. 494-495
    • Winter, R.M.1
  • 5
    • 0005015546 scopus 로고
    • The occurrence of two heritable types of abnormality among descendants of X-rayed mice
    • Little, C. C., and Bagg, H. J. (1923) The occurrence of two heritable types of abnormality among descendants of X-rayed mice. Am. J. Roentgenol. 10, 975-989.
    • (1923) Am. J. Roentgenol , vol.10 , pp. 975-989
    • Little, C.C.1    Bagg, H.J.2
  • 7
    • 0008183972 scopus 로고
    • Development of a mutant with abnormalities of the eye and extremities
    • Beasley, A. B., and Crutchfield, F. L. (1969) Development of a mutant with abnormalities of the eye and extremities. Anat. Rec. 163, 293.
    • (1969) Anat. Rec , vol.163 , pp. 293
    • Beasley, A.B.1    Crutchfield, F.L.2
  • 9
    • 0033847998 scopus 로고    scopus 로고
    • Developmental eye and neural tube defects in the eye blebs mouse
    • Swiergiel, J. J., Funderburgh, J. L., Justice, M. J., and Conrad, G. W. (2000) Developmental eye and neural tube defects in the eye blebs mouse. Dev. Dyn. 219, 21-27.
    • (2000) Dev. Dyn , vol.219 , pp. 21-27
    • Swiergiel, J.J.1    Funderburgh, J.L.2    Justice, M.J.3    Conrad, G.W.4
  • 10
    • 23844445146 scopus 로고    scopus 로고
    • Tissue morphogenesis and vascular stability require the Frem2 protein, product of the mouse myelencephalic blebs gene
    • Timmer, J. R., Mak, T. W., Manova, K., Anderson, K. V., and Niswander, L. (2005) Tissue morphogenesis and vascular stability require the Frem2 protein, product of the mouse myelencephalic blebs gene. Proc. Natl. Acad. Sci. USA 102, 11746-11750.
    • (2005) Proc. Natl. Acad. Sci. USA , vol.102 , pp. 11746-11750
    • Timmer, J.R.1    Mak, T.W.2    Manova, K.3    Anderson, K.V.4    Niswander, L.5
  • 11
    • 0019793475 scopus 로고
    • Head blebs: A new mutation on chromosome 4 of the mouse
    • Varnum, D. S., and Fox, S. C. (1981) Head blebs: a new mutation on chromosome 4 of the mouse. J. Hered. 72, 293.
    • (1981) J. Hered , vol.72 , pp. 293
    • Varnum, D.S.1    Fox, S.C.2
  • 12
    • 0037872680 scopus 로고    scopus 로고
    • McGregor, L., Makela, V., Darling, S. M., Vrontou, S., Chalepakis, G., Roberts, C., Smart, N., Rutland, P., Prescott, N., Hopkins, J., Bentley, E., Shaw, A., Roberts, E., Mueller, R., Jadeja, S., Philip, N., Nelson, J., Francannet, C., Perez-Aytes, A., Megarbane, A., Kerr, B., Wainwright, B., Woolf, A. S., Winter, R. M., and Scambler, P. J. (2003) Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat. Genet. 34, 203-208.
    • McGregor, L., Makela, V., Darling, S. M., Vrontou, S., Chalepakis, G., Roberts, C., Smart, N., Rutland, P., Prescott, N., Hopkins, J., Bentley, E., Shaw, A., Roberts, E., Mueller, R., Jadeja, S., Philip, N., Nelson, J., Francannet, C., Perez-Aytes, A., Megarbane, A., Kerr, B., Wainwright, B., Woolf, A. S., Winter, R. M., and Scambler, P. J. (2003) Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat. Genet. 34, 203-208.
  • 13
    • 33846828781 scopus 로고    scopus 로고
    • Fraser and Ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated FRAS1
    • Cavalcanti, D. P., Matejas, V., Luquetti, D., Mello, M. F., and Zenker, M. (2007) Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1. Am. J. Med. Genet. A. 143, 241-247.
    • (2007) Am. J. Med. Genet. A , vol.143 , pp. 241-247
    • Cavalcanti, D.P.1    Matejas, V.2    Luquetti, D.3    Mello, M.F.4    Zenker, M.5
  • 15
    • 4544312319 scopus 로고    scopus 로고
    • The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis
    • Smyth, I., Du, X., Taylor, M. S., Justice, M. J., Beutler, B., and Jackson, I. J. (2004) The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis. Proc. Natl. Acad. Sci. USA 101, 13560-13565.
    • (2004) Proc. Natl. Acad. Sci. USA , vol.101 , pp. 13560-13565
    • Smyth, I.1    Du, X.2    Taylor, M.S.3    Justice, M.J.4    Beutler, B.5    Jackson, I.J.6
  • 17
    • 33747051471 scopus 로고    scopus 로고
    • Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects
    • Kiyozumi, D., Sugimoto, N., and Sekiguchi, K. (2006) Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects. Proc. Natl. Acad. Sci. USA 103, 11981-11986.
    • (2006) Proc. Natl. Acad. Sci. USA , vol.103 , pp. 11981-11986
    • Kiyozumi, D.1    Sugimoto, N.2    Sekiguchi, K.3
  • 19
    • 0033567072 scopus 로고    scopus 로고
    • Characterization of the glutamate receptor-interacting proteins GRIP1 and GRIP2
    • Dong, H., Zhang, P., Song, I., Petralia, R. S., Liao, D., and Huganir, R. L. (1999) Characterization of the glutamate receptor-interacting proteins GRIP1 and GRIP2. J. Neurosci. 19, 6930-6941.
    • (1999) J. Neurosci , vol.19 , pp. 6930-6941
    • Dong, H.1    Zhang, P.2    Song, I.3    Petralia, R.S.4    Liao, D.5    Huganir, R.L.6
  • 20
    • 0037076403 scopus 로고    scopus 로고
    • Epidermolysis bullosa and embryonic lethality in mice lacking the multi-PDZ domain protein GRIP1
    • Bladt, F., Tafuri, A., Gelkop, S., Langille, L., and Pawson, T. (2002) Epidermolysis bullosa and embryonic lethality in mice lacking the multi-PDZ domain protein GRIP1. Proc. Natl. Acad. Sci. USA 99, 6816-6821.
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 6816-6821
    • Bladt, F.1    Tafuri, A.2    Gelkop, S.3    Langille, L.4    Pawson, T.5
  • 21
    • 0242552255 scopus 로고    scopus 로고
    • The NG2 proteoglycan: Past insights and future prospects
    • Stallcup, W. B. (2002) The NG2 proteoglycan: past insights and future prospects. J. Neurocytol. 31, 423-435.
    • (2002) J. Neurocytol , vol.31 , pp. 423-435
    • Stallcup, W.B.1
  • 22
    • 0037063357 scopus 로고    scopus 로고
    • A novel repeat in the melanoma-associated chondroitin sulfate proteoglycan defines a new protein family
    • Staub, E., Hinzmann, B., and Rosenthal, A. (2002) A novel repeat in the melanoma-associated chondroitin sulfate proteoglycan defines a new protein family. FEBS Lett. 527, 114-118.
    • (2002) FEBS Lett , vol.527 , pp. 114-118
    • Staub, E.1    Hinzmann, B.2    Rosenthal, A.3
  • 23
    • 0029921945 scopus 로고    scopus 로고
    • Binding of the NG2 proteoglycan to type VI collagen and other extracellular matrix molecules
    • Burg, M. A., Tillet, E., Timpl, R., and Stallcup, W. B. (1996) Binding of the NG2 proteoglycan to type VI collagen and other extracellular matrix molecules. J. Biol. Chem. 271, 26110-26116.
    • (1996) J. Biol. Chem , vol.271 , pp. 26110-26116
    • Burg, M.A.1    Tillet, E.2    Timpl, R.3    Stallcup, W.B.4
  • 24
    • 0036022140 scopus 로고    scopus 로고
    • NG2 proteoglycan mediates beta1 integrin-independent cell adhesion and spreading on collagen VI
    • Tillet, E., Gential, B., Garrone, R., and Stallcup, W. B. (2002) NG2 proteoglycan mediates beta1 integrin-independent cell adhesion and spreading on collagen VI. J. Cell Biochem. 86, 726-736.
    • (2002) J. Cell Biochem , vol.86 , pp. 726-736
    • Tillet, E.1    Gential, B.2    Garrone, R.3    Stallcup, W.B.4
  • 25
    • 0033546441 scopus 로고    scopus 로고
    • High-affinity binding of basic fibroblast growth factor and platelet-derived growth factor-AA to the core protein of the NG2 proteoglycan
    • Goretzki, L., Burg, M. A., Grako, K. A., and Stallcup, W. B. (1999) High-affinity binding of basic fibroblast growth factor and platelet-derived growth factor-AA to the core protein of the NG2 proteoglycan. J. Biol. Chem. 274, 16831-16837.
    • (1999) J. Biol. Chem , vol.274 , pp. 16831-16837
    • Goretzki, L.1    Burg, M.A.2    Grako, K.A.3    Stallcup, W.B.4
  • 27
    • 0030808324 scopus 로고    scopus 로고
    • The PDGF alpha receptor is required for neural crest cell development and for normal patterning of the somites
    • Soriano, P. (1997) The PDGF alpha receptor is required for neural crest cell development and for normal patterning of the somites. Development 124, 2691-2700.
    • (1997) Development , vol.124 , pp. 2691-2700
    • Soriano, P.1
  • 28
    • 0030955318 scopus 로고    scopus 로고
    • Calx, a Na-Ca exchanger gene of Drosophila melanogaster
    • Schwarz, E. M., and Benzer, S. (1997) Calx, a Na-Ca exchanger gene of Drosophila melanogaster. Proc. Natl. Acad. Sci. USA 94, 10249-10254.
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 10249-10254
    • Schwarz, E.M.1    Benzer, S.2
  • 29
    • 18844448193 scopus 로고    scopus 로고
    • Identification of a novel cell-adhesive protein spatiotemporally expressed in the basement membrane of mouse developing hair follicle
    • Kiyozumi, D., Osada, A., Sugimoto, N., Weber, C. N., Ono, Y., Imai, T., Okada, A., and Sekiguchi, K. (2005) Identification of a novel cell-adhesive protein spatiotemporally expressed in the basement membrane of mouse developing hair follicle. Exp. Cell Res. 306, 9-23.
    • (2005) Exp. Cell Res , vol.306 , pp. 9-23
    • Kiyozumi, D.1    Osada, A.2    Sugimoto, N.3    Weber, C.N.4    Ono, Y.5    Imai, T.6    Okada, A.7    Sekiguchi, K.8
  • 31
    • 33847080075 scopus 로고    scopus 로고
    • Overlapping and divergent localization of Frem1 and Fras1 and its functional implications during mouse embryonic development
    • Petrou, P., Chiotaki, R., Dalezios, Y., and Chalepakis, G. (2007) Overlapping and divergent localization of Frem1 and Fras1 and its functional implications during mouse embryonic development. Exp. Cell Res. 313, 910-920.
    • (2007) Exp. Cell Res , vol.313 , pp. 910-920
    • Petrou, P.1    Chiotaki, R.2    Dalezios, Y.3    Chalepakis, G.4
  • 32
    • 27744516069 scopus 로고    scopus 로고
    • The genetics of Fraser syndrome and the blebs mouse mutants
    • Smyth, I., and Scambler, P. (2005) The genetics of Fraser syndrome and the blebs mouse mutants. Hum. Mol. Genet. 14 Spec No. 2, R269-274.
    • (2005) Hum. Mol. Genet , vol.14 , Issue.SPEC 2
    • Smyth, I.1    Scambler, P.2
  • 33
    • 34447545502 scopus 로고    scopus 로고
    • Frem3, a member of the 12 CSPG repeats-containing extracellular matrix protein family, is a basement membrane protein with tissue distribution patterns distinct from those of Fras1, Frem2, and QBRICK/Frem1
    • DOI:10.1016/j.matbio.2007.03.001
    • Kiyozumi, D., Sugimoto, N., Nakano, I., and Sekiguchi, K. (2007) Frem3, a member of the 12 CSPG repeats-containing extracellular matrix protein family, is a basement membrane protein with tissue distribution patterns distinct from those of Fras1, Frem2, and QBRICK/Frem1. Matrix Biol. DOI:10.1016/j.matbio.2007.03.001.
    • (2007) Matrix Biol
    • Kiyozumi, D.1    Sugimoto, N.2    Nakano, I.3    Sekiguchi, K.4
  • 34
    • 0030829724 scopus 로고    scopus 로고
    • Integrators of epidermal growth and differentiation: Distinct functions for beta 1 and beta 4 integrins
    • Fuchs, E., Dowling, J., Segre, J., Lo, S. H., and Yu, Q. C. (1997) Integrators of epidermal growth and differentiation: distinct functions for beta 1 and beta 4 integrins. Curr. Opin. Genet. Dev. 7, 672-682.
    • (1997) Curr. Opin. Genet. Dev , vol.7 , pp. 672-682
    • Fuchs, E.1    Dowling, J.2    Segre, J.3    Lo, S.H.4    Yu, Q.C.5
  • 35
    • 33745947286 scopus 로고    scopus 로고
    • Current insights into the formation and breakdown of hemidesmosomes
    • Litjens, S. H., de Pereda, J. M., and Sonnenberg, A. (2006) Current insights into the formation and breakdown of hemidesmosomes. Trends Cell Biol. 16, 376-383.
    • (2006) Trends Cell Biol , vol.16 , pp. 376-383
    • Litjens, S.H.1    de Pereda, J.M.2    Sonnenberg, A.3
  • 36
    • 4644245680 scopus 로고    scopus 로고
    • Epidermolysis bullosa: The expanding mutation database
    • Uitto, J. (2004) Epidermolysis bullosa: the expanding mutation database. J. Invest. Dermatol. 123, xii-xiii.
    • (2004) J. Invest. Dermatol , vol.123
    • Uitto, J.1
  • 37
    • 0345517972 scopus 로고    scopus 로고
    • Biology of anchoring fibrils: Lessons from dystrophic epidermolysis bullosa
    • Bruckner-Tuderman, L., Hopfner, B., and Hammami-Hauasli, N. (1999) Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa. Matrix Biol. 18, 43-54.
    • (1999) Matrix Biol , vol.18 , pp. 43-54
    • Bruckner-Tuderman, L.1    Hopfner, B.2    Hammami-Hauasli, N.3
  • 38
    • 0032717715 scopus 로고    scopus 로고
    • Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: A model for recessive dystrophic epidermolysis bullosa
    • Heinonen, S., Mannikko, M., Klement, J. F., Whitaker-Menezes, D., Murphy, G. F., and Uitto, J. (1999) Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa. J. Cell Sci. 112 (Pt 21), 3641-3648.
    • (1999) J. Cell Sci , vol.112 , Issue.PART 21 , pp. 3641-3648
    • Heinonen, S.1    Mannikko, M.2    Klement, J.F.3    Whitaker-Menezes, D.4    Murphy, G.F.5    Uitto, J.6
  • 39
    • 15444381262 scopus 로고    scopus 로고
    • Basement membrane distortions impair lung lobation and capillary organization in the mouse model for fraser syndrome
    • Petrou, P., Pavlakis, E., Dalezios, Y., Galanopoulos, V. K., and Chalepakis, G. (2005) Basement membrane distortions impair lung lobation and capillary organization in the mouse model for fraser syndrome. J. Biol. Chem. 280, 10350-10356.
    • (2005) J. Biol. Chem , vol.280 , pp. 10350-10356
    • Petrou, P.1    Pavlakis, E.2    Dalezios, Y.3    Galanopoulos, V.K.4    Chalepakis, G.5
  • 41
    • 0030614865 scopus 로고    scopus 로고
    • Integrin alpha8beta1 is critically important for epithelial-mesenchymal interactions during kidney morphogenesis
    • Muller, U., Wang, D., Denda, S., Meneses, J. J., Pedersen, R. A., and Reichardt, L. F. (1997) Integrin alpha8beta1 is critically important for epithelial-mesenchymal interactions during kidney morphogenesis. Cell 88, 603-613.
    • (1997) Cell , vol.88 , pp. 603-613
    • Muller, U.1    Wang, D.2    Denda, S.3    Meneses, J.J.4    Pedersen, R.A.5    Reichardt, L.F.6
  • 42
    • 0032514841 scopus 로고    scopus 로고
    • Extensive vasculogenesis, angiogenesis, and organogenesis precede lethality in mice lacking all alpha v integrins
    • Bader, B. L., Rayburn, H., Crowley, D., and Hynes, R. O. (1998) Extensive vasculogenesis, angiogenesis, and organogenesis precede lethality in mice lacking all alpha v integrins. Cell 95, 507-519.
    • (1998) Cell , vol.95 , pp. 507-519
    • Bader, B.L.1    Rayburn, H.2    Crowley, D.3    Hynes, R.O.4
  • 43
    • 33847235717 scopus 로고    scopus 로고
    • Scratching the surface of skin development
    • Fuchs, E. (2007) Scratching the surface of skin development. Nature 445, 834-842.
    • (2007) Nature , vol.445 , pp. 834-842
    • Fuchs, E.1
  • 44
    • 0033594491 scopus 로고    scopus 로고
    • p63 is a p53 homologue required for limb and epidermal morphogenesis
    • Mills, A. A., Zheng, B., Wang, X. J., Vogel, H., Roop, D. R., and Bradley, A. (1999) p63 is a p53 homologue required for limb and epidermal morphogenesis. Nature 398, 708-713.
    • (1999) Nature , vol.398 , pp. 708-713
    • Mills, A.A.1    Zheng, B.2    Wang, X.J.3    Vogel, H.4    Roop, D.R.5    Bradley, A.6
  • 46
    • 33745594603 scopus 로고    scopus 로고
    • Lhx2 maintains stem cell character in hair follicles
    • Rhee, H., Polak, L., and Fuchs, E. (2006) Lhx2 maintains stem cell character in hair follicles. Science 312, 1946-1949.
    • (2006) Science , vol.312 , pp. 1946-1949
    • Rhee, H.1    Polak, L.2    Fuchs, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.