Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome

Human Molecular Genetics

Volumn 6, Issue 2, 1997, Pages 157-164

  Lo Nigro, Cristiana ^a,b   Chong, Samuel S ^c,d   Smith, Ann C M ^c   Dobyns, William B ^e   Carrozzo, Romeo ^b   Ledbetter, David H ^c,f  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

^e UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^f UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

AGYRIA; AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 17P; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EXON; GENE DELETION; GENE STRUCTURE; HUMAN; HUMAN CELL; MALFORMATION SYNDROME; POINT MUTATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

1-ALKYL-2-ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; ABNORMALITIES, MULTIPLE; BASE SEQUENCE; BRAIN; CHILD; DNA, COMPLEMENTARY; EXONS; FACE; GENE DELETION; HUMANS; MICROTUBULE-ASSOCIATED PROTEINS; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; RNA SPLICING; SYNDROME;

ACRONICTA LEPORINA;

EID: 0031040866     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.2.157     Document Type: Article

References (29)

1. Barkovich,A.J., Koch,T.K. and Carrol,C.L. (1991) The spectrum of lissencephaly: report of ten patients analyzed by magnetic resonance imaging. Ann. Neurol., 30, 139-146.
2. Dobyns,W.B., Elias,E.R., Newlin,A.C., Pagon,A. and Ledbetter,D.H. (1992) Causal heterogeneity in isolated lissencephaly. Neurology, 42, 1375-1388.
3. Dobyns,W.B. and Truwit,C.L. (1995) Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics, 26, 132-147.
4. Dobyns,W.B., Andermann,E., Andermann,F., Czapansky-Beilman,D., Dubeau,F., Dulac,O., Guerrini,R., Hirsch,B., Ledbetter,D.H., Lee,N.S., Motte,J., Pinard J-M., Radtke,R.A., Ross,M.E., Tampieri,D., Walsh,C.A. and Truwit,C.L. (1996) X-linked malformations of neuronal migration. Neurology, 47, 331-339.
5. Dobyns,W.B., Curry,C.J.R., Hoyme,H.E., Turlington,L. and Ledbetter,D.H. (1991) Clinical and molecular diagnosis of Miller-Dieker syndrome. Am. J. Hum. Genet., 48, 584-594.
6. Dobyns,W.B., Reiner,O., Carrozzo,R. and Ledbetter,D.H. (1993) Lissencephaly, a human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. J. Am. Med. Assoc., 270, 2838-2842.
7. Reiner,O., Carrozzo,R., Shen,Y., Wehnert,M., Faustinella,F., Dobyns,W.B., Caskey,C.T. and Ledbetter,D.H. (1993) Isolation of a Miller-Dieker lissencephaly gene containing G protein β-subunit-like repeats. Nature, 364, 717-721.
8. Chong,S.S., Tanigami,A., Roschke,A.V., and Ledbetter,D.H. (1996) 14-3-3ε has no homology to LIS1 and lies telomeric to it on chromosome 17p13.3 outside the Miller-Dieker syndrome chromosome region. Genome Res., 6, 735-741.
9. Chong,S.S., Pack,S.D., Roschke,A.V., Tanigami,A., Carrozzo,R., Smith,A.C.M., Dobyns,W.B., and Ledbetter,D.H. (1997) A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol. Genet., 6, 147-155.
10. Shapiro,M.B. and Senapathy,P. (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res., 15, 7155-7174.
11. Ohshima,Y. and Gotoh,Y. (1987) Signals for the selection of a splice site in pre-mRNA. Computer analysis of splice junction sequences and like sequences. J Mol. Biol., 195, 247-259.
12. Reiner,O., Bar-Am,I., Sapir,T., Shmueli,O., Carrozzo,R., Lindsay,E.A., Baldini,A., Ledbetter,D.H. and Cahana,A. (1995) LIS2, gene and pseudogene. homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2. Genomics 30, 251-256.
13. Hakwins,J.D. (1988) A survey on intron and exon length. Nucleic Acids Res., 16, 9893-9908.
14. Weil,D., Bernard,M., Combates,N., Wirtz,M.K., Hollister,D.W., Steinmann,B. and Raminez,F. (1988) Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in a Ehlers-Danlos syndrome variant. J. Biol. Chem., 263, 8561-8564.
15. Weil,D., D'Alessio,M., Raminez,F. and Eyre,D.R. (1990) Structural and functional characterization of a splicing mutation in the pro-alpha 2(I) collagen gene of an Ehlers-Danlos type VII patient. J. Biol. Chem., 265, 16007-16011.
16. Grandchamp,B., Picat,C., de Rooji,F., Beaumont,F., Wilson,P., Deybach,J.C. and Nordmann,Y. (1989) A point mutation G to A in exon 12 of the PBGD gene results in exon skipping and is responsible for acute intermittent porphyria. Nucleic Acids Res., 17, 6637-6649.
17. Carstens,R.P., Fenton,W.A. and Rosenberg,L.R. (1991) Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency. Am. J. Hum. Genet. 48, 1105-1114.
18. Marvit,J., DiLella,A.G., Brayton,K., Ledley,F.D., Robson,K.J.H. and Woo,S.L.C. (1987) GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria. Nucleic Acids Res., 15, 5613-5628.
19. Hattori,M., Adachi,H., Tsujimoto,M., Arai,H. and Inoue,K. (1994) Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor. Nature, 370, 216-218.
20. Kornecki,E. and Ehrlich,Y.H. (1988) Neuroregulatory and neuropathological actions of the ether-phospholipid platelet-activating factor. Science, 240, 1792-1794.
21. Clark,G.D., McNeil,R.S., Bix,G.J. and Swann,J.W. (1995) Platelet-Activating Factor produces neuronal growth cone collapse. NeuroReport, 6, 2569-2575.
22. Fisher,E. and Scambler,P. (1994) Human haploinsufficiency, one for sorrow, two for joy. Nature Genet., 7, 5-7.
23. Kenwrick,S., Jouet,M. and Donnai,D. (1996) X Linked hydrocephalus and MASA syndrome. J. Med. Genet., 33, 59-65.
24. Brunelli,S., Faiella,A., Capra,V., Nigro,V., Simeone,A., Cama,A. and Boncinelli,E. (1996) Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nature Genet., 12, 94-96.
25. Franco,B., Guioli,S., Pragliola,A. Incerti,B., Bardoni,B., Tonlorenzi,R., Carrozzo,R., Maestrini,E., Pieretti,M., Taillon-Miller,P., Brown,C.J., Willard,H.F., Lawrence,C., Persico,M.G., Camerino,G. and Ballabio,A. (1991) A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature, 353, 529-536.
26. Hardelin,J.-P., Levilliers,J., Blanchard,S., Carel,J.C., Leutenegger,M., Pinard-Bertelletto,J.-P., Bouloux,P. and Petit,C. (1993) Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. Hum. Mol. Genet., 2, 373-377.
27. Chomczynsky,P. and Sacchi,N. (1987) Single step method of RNA isolation by acid guanidium thiocyanate-phenol-chloiophorm extraction. Anal. Biochem., 162, 156-159.
28. Sambrook,J., Fritsch,E.F. and Maniatis,T. (1989) Molecular Cloning: A Laboratory Manual. 2nd ed. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
29. Grace,M., Buzard,G.S. and Weintraub,B.D. (1995) Allele-Specific Associated Polymorphism analysis: novel modification of SSCP for mutation detection in heterozygous alleles using the paradigm of resistance of thyroid hormone. Hum. Mutat., 6, 232-242.