Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome

European Journal of Human Genetics

Volumn 9, Issue 2, 2001, Pages 82-90

  Hitchins, Megan P ^a   Monk, David ^a,b   Bell, Gillian M ^a   Ali, Zehra ^a   Preece, Michael A ^b   Stanier, Philip ^a   Moore, Gudrun E ^a  

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

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Genomic imprinting; GRB10; SRS; Tissue specific

Indexed keywords

GROWTH FACTOR RECEPTOR BOUND PROTEIN 10; GROWTH INHIBITOR; UNCLASSIFIED DRUG;

ADULT; ALLELE; ANIMAL EMBRYO; ARTICLE; BIRTH WEIGHT; BRAIN; CENTRAL NERVOUS SYSTEM; CHROMOSOME 11; CHROMOSOME 7P; CHROMOSOME MAP; CLINICAL ARTICLE; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; DISEASE ASSOCIATION; EMBRYO; EVALUATION; EXTRACHROMOSOMAL INHERITANCE; FEMALE; FETUS; FETUS (ANATOMY); GENE DUPLICATION; GENE EXPRESSION; GENE MUTATION; GENE REPRESSION; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC SCREENING; GENOME IMPRINTING; GROWTH DISORDER; GROWTH INHIBITION; HUMAN; HUMAN CELL; HUMAN TISSUE; HYBRIDIZATION; MOUSE; NERVOUS SYSTEM DEVELOPMENT; NONHUMAN; NUCLEOTIDE SEQUENCE; POSTNATAL GROWTH; PRENATAL EXPOSURE; PRENATAL GROWTH; PRIORITY JOURNAL; RECESSIVE GENE; SEQUENCE HOMOLOGY; SILVER RUSSELL SYNDROME; SPINAL CORD; TISSUE SPECIFICITY; UNIPARENTAL DISOMY;

ANIMALIA; MURINAE;

EID: 0035131431     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200583     Document Type: Article

References (38)

1. A syndrome of intrauterine dwarfism recognizable at birth with craniofacial dysostosis, disproportionate short arms and other anomalies
2. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotrophins
3. The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria
4. Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation
5. Maternal uniparental disomy 7 in Silver-Russell syndrome
6. Molecular studies in 37 Silver-Russell syndrome patients: Frequency and etiology of uniparental disomy
7. An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands
8. Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome
9. Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome
10. Biparental expression of IGFBP1 and IGFBP3 renders their involvement in the etiology of Silver-Russell syndrome unlikely
11. Biallelic expression of IGFBP1 and IGFBP3, two candidate genes for the Silver-Russell syndrome
12. Screening for mutations in the promoter and the coding region of the IGFBP1 and IGFBP3 genes in Silver-Russell syndrome patients
13. Identification of the Meg1/Grb10 imprinted gene on mouse proximal chromosome 11, a candidate for the Silver-Russell syndrome
14. Grb I.R.: A SH2-domain-containing protein that binds to the insulin receptor and inhibits its function
15. Interaction of a GRB-IR splice variant (a human GRB10 homologue) with the insulin-like growth factor I receptors
16. Human GRB-IRβ/GRB10
17. Cloning, chromosome localization, expression, and characterization of an Src homology 2 and pleckstrin homology domain-containing insulin receptor binding protein hGrb10γ
18. Grb10 interacts differentially with the insulin receptor, insulin-like growth factor I receptor, and epidermal growth factor receptor via the Grb10 Src homology 2 (SH2) domain and a second novel domain located homology and SH2 domains
19. The role of mGrb10α in insulin-like growth factor I-mediated growth
20. Grb10 identified as a potential regulator of growth hormone (GH) signaling by cloning of GH receptor target proteins
21. Assignment of growth factor receptor-bound protein 10 (GRB10) to human chromosome 7p11.2-p12
22. Differential activity of maternally and paternally derived chromosome regions in mice
23. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants
24. Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease
25. Genomic structure of the gene for the SH2 and pleckstrin homology domain-containing protein GRB10 and evaluation of its role in Hirschsprung disease
26. Promoter-specific imprinting of the human insulin-like growth factor II gene
27. Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses
28. Isoform-specific imprinting of the human PEG1/MEST gene
29. Imprinted expression of the Igf2r gene depends on an intronic CpG island
30. An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript
31. An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus
32. The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
33. Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain
34. Imprinted expression of the murine Angelman syndrome gene, beE3a, in hippocampal and Purkinje neurons
35. Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor p57KIP2, on chromosome 11p15
36. The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans
37. Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion
38. Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome