Evaluation of two X chromosomal candidate genes for Rett syndrome: Glutamate dehydrogenase-2 (GLUD2) and rab GDP-dissociation inhibitor (GDI1)

American Journal of Medical Genetics

Volumn 78, Issue 2, 1998, Pages 169-172

  Wan, Minghong ^a   Francke, Uta ^a,b  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b STANFORD UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

GDI1; GLUD2; RABGDIA; Rett syndrome; XAP 4

Indexed keywords

GLUTAMATE DEHYDROGENASE;

ARTICLE; CHROMOSOME XQ; GENE MAPPING; GENE MUTATION; HUMAN; HUMAN TISSUE; NERVE CELL DIFFERENTIATION; NEUROTRANSMITTER RELEASE; PRIORITY JOURNAL; RETT SYNDROME;

BLOTTING, SOUTHERN; GLUTAMATE DEHYDROGENASE; GTP-BINDING PROTEINS; GUANINE NUCLEOTIDE DISSOCIATION INHIBITORS; HUMANS; POLYMERASE CHAIN REACTION; RETT SYNDROME; X CHROMOSOME;

EID: 0032581048     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980630)78:2<169::AID-AJMG14>3.0.CO;2-L     Document Type: Article

References (18)

1. Anagnou NP, Seuanez H, Modi W, O'Brien SJ, Papamatheakis J, Moschonas NK (1993): Chromosomal mapping of two members of the human glutamate dehydrogenase (GLUD) gene family to chromosomes 10q22.3-q23 and Xq22-q23. Hum Hered 43:351-356.
2. Archidiacono N, Lerone M, Rocehi M, Anvret M, Ozcelik T, Francke U, Romeo G (1991): Rett syndrome: Exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations. Hum Genet 86:604-606.
3. Armstrong DD (1997): Review of Rett syndrome. J Neuropathol Exp Neurol 56:843-849.
4. Bachner D, Sedlacek Z, Korn B, Hameister H, Poustka A (1995): Expression patterns of two human genes coding for different rab GDP-dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport. Hum Mol Genet 4:701-708.
5. Boguski MS, McCormick F (1993): Proteins regulating Ras and its relatives. Nature 366:643-654.
6. Clarke A (1996): Rett syndrome. J Med Genet 33:693-699.
7. Curtis ARJ, Headland S, Lindsay S, Thomas NST, Boye E, Kamakari S, Roustan P, Anvret M, Wahlstrom J, McCarthy G, Clarke AJ, Bhattacharya S (1993): X chromosome linkage studies in familial Rett syndrome. Hum Genet 90:551-555.
8. Ellison KA, Fill CP, Terwilliger J, DeGennaro LJ, Martin-Gallardo A, Anvret M, Percy AK, Ott J, Zoghbi H (1992): Examination of X chromosome markers in Rett syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis. Am J Hum Genet 50:278-287.
9. Jung KY, Warter S, Rumpler Y (1989): Assignment of the GDH loci to human chromosomes 10q23 and Xq24 by in situ hybridization. Ann Genet 32:109-110.
10. Lappalainen R, Riikonen RS (1996): High levels of cerebrospinal fluid glutamate in Rett syndrome. Pediatr Neurol 15:213-216.
11. Michaelidis TM, Tzimagiorgis G, Moschonas NK, Papamatheakis J (1993): The human glutamate dehydrogenase gene family: Gene organization and structural characterization. Genomics 16:150-160.
12. Schanen NC, Dahle JR, Capozzoli F, Holm V, Zoghbi HY, Francke U (1997): A new Rett syndrome family consistent with X-linked inheritance expands the X chromosme exclusion map. Am J Hum Genet 61:634-641.
13. Sedlacek Z, Korn B, Konecki DS, Siebenhaar R, Coy JF, Kioschis P, Poustka A (1993). Construction of a transcription map of a 300 kb region around the human G6PD locus by direct cDNA selection. Hum Mol Genet 2:1865-1869.
14. Sedlacek Z, Konecki DS, Korn B, Klauck SM, Poustka A (1994): Evolutionary conservation and genomic organization of XAP-4, an Xq28 located gene coding for a human rab GDP-dissociation inhibitor (GDI). Mamm Genome 5:633-639.
15. Shashidharan P, Michaelidis TM, Robakis NK, Kresovali A, Papamatheakis J, Plaitakis A (1994): Novel human glutamate dehydrogenase expressed in neural and testicular tissues and encoded by an X-linked intronless gene. J Biol Chem 269:16971-16976.
16. Shashidharan P, Clarke DD, Ahmed N, Moschonas N, Plaitakis A (1997): Nerve tissue-specific human glutamate dehydrogenase that is therm labile and highly regulated by ADP. J Neurochem 68:1804-1811.
17. Simons K, Zerial M (1993): Rab proteins and road maps for intracellula transport. Neuron 11:789-799.
18. Sugano K, Kyogoku A, Fukayama N, Ohkura H, Shimosato Y, Sekiya Hayashi K (1993): Rapid and simple detection of c-Ki-ras2 gene condc 12 mutation by nonradioisotopic single-strand conformation polymorphism analysis. Methods Lab Invest 65:361-366.