Isolation and characterization of the complete mouse emerin gene

Mammalian Genome

Volumn 8, Issue 5, 1997, Pages 337-341

  Small, Kersten ^a   Wagener, Maylene ^a   Warren, Stephen T ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA BINDING PROTEIN; EMERIN; LAMINA ASSOCIATED POLYPEPTIDE 2; LAMINA-ASSOCIATED POLYPEPTIDE 2; MEMBRANE PROTEIN; NUCLEAR PROTEIN; PRIMER DNA; THYMOPOIETIN;

AMINO ACID SEQUENCE; ANIMAL; ANIMAL MUSCULAR DYSTROPHY; ARTICLE; BAGG ALBINO MOUSE; CHROMOSOME MAP; COMPARATIVE STUDY; DISEASE MODEL; GENETIC LINKAGE; GENETICS; HUMAN; MOLECULAR GENETICS; MOUSE; MUSCULAR DYSTROPHY; NUCLEOTIDE SEQUENCE; RAT; SEQUENCE HOMOLOGY; SPECIES DIFFERENCE; X CHROMOSOME;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHROMOSOME MAPPING; CONSERVED SEQUENCE; DISEASE MODELS, ANIMAL; DNA PRIMERS; DNA, COMPLEMENTARY; DNA-BINDING PROTEINS; HUMANS; LINKAGE (GENETICS); MEMBRANE PROTEINS; MICE; MICE, INBRED BALB C; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHY, ANIMAL; NUCLEAR PROTEINS; RATS; SEQUENCE HOMOLOGY, AMINO ACID; SEQUENCE HOMOLOGY, NUCLEIC ACID; SPECIES SPECIFICITY; THYMOPOIETINS; X CHROMOSOME;

ANIMALIA; MURINAE; RODENTIA;

EID: 0031133929     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003359900435     Document Type: Article

References (17)

1. Berger R, Theodor L, Shoham J, Gokkel E, Brok-Simoni F, Avraham KB, Copeland NG, Jenkins NA, Rechavi G, Simon AJ (1996) The characterization and localization of the mouse thymopoietin/lamina-associated polypeptide 2 gene and its alternatively spliced products. Genome Res 6, 361-370
2. Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D (1994) Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nature Genet 8, 323-327
3. Bione S, Small K, Aksmanovic VMA, D'Urso M, Ciccodicola A, Merlini L, Morandi L, Kress W, Yates JRW, Warren ST, Toniolo D (1995) Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Hum Mol Genet 4, 1859-1863
4. Borrelli E, Montmayeur JP, Foulkes NS, Paulo SC (1992) Signal transduction and gene control: the cAMP pathway. Crit Rev Oncog 3, 321-338
5. Consalez GG, Thomas NST, Stayton C, Knight SJL, Johnson M, Hopkins LC, Harper PS, Elsas LJ, Warren ST (1991) Assignment of Emery-Dreifuss muscular diptrophy to the distal region of xq28: the results of a collaborative study. Am J Hum Genet 48, 468-480
6. Faisst S, Meyer S (1992) Compilation of vertebrate-encoded transcription factors, Nucleic Acids Res 20, 3-26
7. Foisner R, Gerace L (1993) Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation. Cell 73, 1267-1279
8. Furukawa K, Pante N, Aebi U, Gerace L (1995) Cloning of a cDNA for lamina-associated polypeptide 2 (LAP2) and identification of regions that specify targeting to the nuclear envelope. EMBO J 14, 1626-1636
9. Harris CA, Andryuk PJ, Cline S, Chan HK, Natarajan A, Siekierka JJ, Goldstein G (1994) Three distinct human thymopoietins are derived from alternatively spiced mRNAs. Proc Natl Acad Sci USA 91, 6283-6287
10. Hopkins LC, Warren ST (1993) In Handbook of Clinical Neurobiology, LP Rowland, S DiMauro (eds) (Amsterdam: Elsevier Publishers) pp 145-160
11. Klauck SM, Wilgenbus P, Yates JRW, Muller C, Poutska A (1995) Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. Hum Mol Genet 4, 1853-1857
12. Manilal S, thi Man N, Sewry CA, Morris GE (1996) The Emery Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet 5, 801-808
13. McKusick VA (1994) Mendelian Inheritance in Man (Baltimore, Md.: Johns Hopkins University Press)
14. Nagano A, Ritsuko K, Ogawa M, Kurano Y, Kawada J, Okada R, Hayashi YK, Tsukahara T, Arahata K (1996) Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nature Genet 12, 254-259
15. Nigro V, Bruni P, Ciccodicola A, Politano L, Nigro G, Puliso G, Cappa V, Covone AE, Romeo G, D'Urso M (1995). SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. Hum. Mol Genet 4, 2003-2004
16. Ozawa E, Yoshida M, Suzuki A, Mizuno Y, Hagiwara Y. Noguchi S (1995) Dystrophin-associated proteins in muscular dystrophy. Hum Mol Genet 4, 1711-1716
17. Price DK, Zhang F, Ashley CT, Warren ST (1996) The chicken FMR1 gene is highly conserved with a 5′-untranslated repeat and encodes an RNA-binding protein. Genomics 31, 3-12.