Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues

European Journal of Human Genetics

Volumn 6, Issue 2, 1998, Pages 158-164

  Wakeling, Emma L ^a,b   Abu Amero, Sayeda N ^a   Stanier, Philip ^a   Preece, Michael A ^a,b   Moore, Gudrun E ^a  

^a QUEEN CHARLOTTE S AND CHELSEA HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Epidermal growth factor receptor; Fetal expression; Imprinting; Maternal uniparental disomy; Silver Russell syndrome

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR;

ALLELE; ARTICLE; CASE REPORT; CHROMOSOME 7P; CONTROLLED STUDY; FETUS; FIBROBLAST; GENE EXPRESSION; HUMAN; HUMAN TISSUE; LYMPHOBLAST; PRESCHOOL CHILD; PRIORITY JOURNAL; RECEPTOR GENE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SILVER RUSSELL SYNDROME; UNIPARENTAL DISOMY;

EID: 0031980399     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200179     Document Type: Article

References (34)

1. Spence JE, Perciaccante RG, Greig GM et al: Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 1988; 42: 217-226.
2. Voss R, Ben-Simon E, Avital A et al: Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? Am J Hum Genet 1989; 45: 373-380.
3. Langlois S, Yong SL, Wilson RD, Kwong LC, Kalousek DK: Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7. J Med Genet 1995; 32: 871-875.
4. Kotzot D, Schmitt S, Bernasconi F et al: Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 1995; 4: 583-587.
5. Preece MA, Price SM, Davies V et al: Maternal uniparental disomy 7 in Silver-Russell syndrome. J Med Genet 1997; 34: 6-9.
6. Beechey CV, Cattanach BM: Genetic imprinting map. Mouse Genome 1997; 95: 54-55.
7. Adamson ED: Developmental activities of the epidermal growth factor receptor. Curr Top Dev Biol 1990; 24: 1-29.
8. Adamson ED, Deller MJ, Warshaw JB: Functional EGF receptors are present on mouse embryo tissues.. Nature 1981; 291: 656-659.
9. Wood SA, Kaye PL: Effects of epidermal growth factor on preimplantation mouse embryos. J Reprod Fertil 1989; 85: 575-582.
10. Deal CL, Guyda HJ, Lai WH, Posner BI: Ontogeny of growth factor receptors in the human placenta. Pediatr Res 1982; 16: 820-826.
11. Yeh J, Osathanondh R, Villa-Komaroff L: Expression of messenger ribonucleic acid for epidermal growth factor receptor and its ligands, epidermal growth factor and transforming growth factor-α, in human first- and second-trimester fetal ovary and uterus. Am J Obstet Gynecol 1993; 168: 1569-1573.
12. Johnson MD, Gray ME, Carpenter G, Pepinsky RB, Stahlman MT: Ontogeny of epidermal growth factor receptor and lipocortin-1 in fetal and neonatal human lungs. Hum Pathol 1990; 21: 182-191.
13. Nanney LB, Stoscheck CM, King LJ, Underwood RA, Holbrook KA: Immunolocalization of epidermal growth factor receptors in normal developing human skin. J Invest Dermatol 1990; 94: 742-748.
14. Tebbs CA, Cumberland PFT, Pratten MK: Inhibition of the epidermal growth factor receptor during organogenesis of the rat embryo: a role in growth retardation? 51st Meeting of the Developmental Pathology Society: Programme and Abstracts 1996; 3. 3.
15. Fondacci C, Alsat E, Gabriel R, Blot P, Nessmann C, Evain BD: Alterations of human placental epidermal growth factor receptor in intrauterine growth retardation. J Clin Invest 1994; 93: 1149-155.
16. Luetteke NC, Phillips HK, Qiu TH et al: The mouse waved-2 phenotype results from a point mutation in the EGF receptor tyrosine kinase. Genes Dev 1994; 8: 399-113.
17. Threadgill DW, Dlugosz AA, Hansen LA et al: Targeted disruption of mouse EGF receptor: effect of genetic background on mutant phenotype. Science 1995; 269: 230-234.
18. Cattanach BM, Barr J, Jones J: Use of chromosome rearrangements for investigations into imprinting in the mouse. In: Ohlsson R, Hall K, Ritzen M (ed). Genomic imprinting. Cambridge University Press, 1995. pp 327-341.
19. DeChiara TM, Robertson EJ, Efstratiadis A: Parental imprinting of the mouse insulin-like growth factor II gene. Cell 1991; 64: 849-859.
20. Deltour L, Montagutelli X, Guenet JL, Jami J, Paldi A: Tissue- and developmental stage-specific imprinting of the mouse proinsulin gene, Ins2. Dev Biol 1995; 168: 686-688.
21. Kalscheuer VM, Mariman EC, Schepens MT, Rehder H, Ropers HH: The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans. Nat Genet 1993; 5: 74-78.
22. Kunkel LM, Smith KD, Boyer SH et al: Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 1977; 74: 1245-1249.
23. Chirgwin JM, Przybyla AE, Mac Donald RJ, Rutter WJ: Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry 1979; 18: 5294-5299.
24. Chia CM, Winston RM, Handyside AH: EGF, TGF-α and EGFR expression in human preimplantation embryos. Development 1995; 121: 299-307.
25. Moriai T, Kobrin MS, Korc M: Cloning of a variant epidermal growth factor receptor. Biochem Biophys Res Commun 1993; 191: 1034-1039.
26. Kishino T, Lalande M, Wagstaff J: UBEA/E6-AP mutations cause Angelman syndrome. Nat Genet 1997; 15: 70-73.
27. Riesewijk AM, Hu L, Schulz U et al: Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses. Genomics 1997; 42: 236-244.
28. Jones J, Clemmons D: Insulin-like growth factors and their binding proteins: biological actions. Endocr Rev 1995; 16: 3-34.
29. Carpenter G, Cohen S: Epidermal growth factor. Annu Rev Biochem 1979; 48: 193-216.
30. Partanen AM, Ekblom P, Thesleff I: Epidermal growth factor inhibits morphogenesis and cell differentiation in cultured mouse embryonic teeth. Dev Biol 1985; 111: 84-94.
31. Sundell HW, Gray ME, Serenius FS, Escobedo MB, Stahlman MT: Effects of epidermal growth factor on lung maturation in fetal lambs. Am J Pathol 1980; 100: 707-725.
32. Barrandon Y, Green H: Cell migration is essential for sustained growth of keratinocyte colonies: the roles of transforming growth factor- α and epidermal growth factor. Cell 1987; 50: 1131-1137.
33. Lembach KJ: Induction of human fibroblast proliferation by epidermal growth factor (EGF): enhancement by an EGF-binding arginine esterase and by ascorbate. Proc Natl Acad Sci USA 1976; 73: 183-187.
34. Schreiber AB, Winkler ME, Derynck R: Transforming growth factor- α: a more potent angiogenic mediator than epidermal growth factor. Science 1986; 232: 1250-1253.