Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.
| References: | J Cell Biol. 1987 Sep;105(3):1253-65. (PMID: 3308906) Acta Neuropathol. 1991;81(3):354-8. (PMID: 2058369) Arch Neurol. 1984 Sep;41(9):1001-2. (PMID: 6477224) Nature. 1996 Jan 25;379(6563):311-9. (PMID: 8552184) J Cell Biol. 1975 Dec;67(3):774-88. (PMID: 408) Blood. 1996 May 15;87(10):4424-32. (PMID: 8639804) Genomics. 1989 Nov;5(4):874-9. (PMID: 2687159) Proc Natl Acad Sci U S A. 1987 Apr;84(7):1921-5. (PMID: 3550801) Proc Natl Acad Sci U S A. 1984 Apr;81(7):1991-5. (PMID: 6326095) Res Commun Chem Pathol Pharmacol. 1974 Feb;7(2):375-80. (PMID: 4818380) Oncogene. 1995 Nov 16;11(10):2039-45. (PMID: 7478523) Lab Invest. 1994 Jul;71(1):25-34. (PMID: 8041115) Arch Biochem Biophys. 1995 Nov 10;323(2):361-6. (PMID: 7487099) N Engl J Med. 1968 Nov 7;279(19):1009-15. (PMID: 5681251) Trends Biochem Sci. 1991 Aug;16(8):301-5. (PMID: 1957351) Am J Med Genet. 1987 Oct;28(2):455-70. (PMID: 3322007) Anal Biochem. 1982 Nov 1;126(2):374-80. (PMID: 6186158) FEBS Lett. 1996 Mar 4;381(3):191-4. (PMID: 8601453) Biochim Biophys Acta. 1983 Dec 19;763(4):368-76. (PMID: 6652115) Nat Genet. 1996 Nov;14(3):307-11. (PMID: 8896560) Am J Hum Genet. 1996 Sep;59(3):620-4. (PMID: 8751863) Medicine (Baltimore). 1972 Jul;51(4):247-80. (PMID: 5064229) J Investig Med. 1996 Oct;44(8):454-61. (PMID: 8952226) Proc Natl Acad Sci U S A. 1996 Jun 11;93(12):5905-9. (PMID: 8650191) Mamm Genome. 1996 Oct;7(10):773-5. (PMID: 8854868) J Mol Biol. 1990 Oct 5;215(3):403-10. (PMID: 2231712) Nucleic Acids Res. 1984 Jan 11;12(1 Pt 1):387-95. (PMID: 6546423) Genomics. 1995 Dec 10;30(3):439-44. (PMID: 8825628) Ann Intern Med. 1972 Feb;76(2):293-306. (PMID: 4550589) J Clin Invest. 1972 Mar;51(3):649-65. (PMID: 4400956) Immunology. 1982 Jul;46(3):555-60. (PMID: 6212535) Nat Genet. 1996 Jul;13(3):303-8. (PMID: 8673129) Mol Cell Biol. 1996 Mar;16(3):745-52. (PMID: 8622675) J Cell Sci. 1992 Sep;103 ( Pt 1):201-9. (PMID: 1429905) J Immunol. 1995 Jun 1;154(11):6122-31. (PMID: 7751653) EMBO J. 1996 Oct 1;15(19):5290-8. (PMID: 8895574) Mol Cell Biol. 1996 May;16(5):2378-86. (PMID: 8628305) Nature. 1996 Jul 18;382(6588):262-5. (PMID: 8717042) Nature. 1975 Feb 6;253(5491):471-3. (PMID: 163013) Cell. 1996 Feb 23;84(4):623-31. (PMID: 8598048) J Invest Dermatol. 1968 Jan;50(1):9-18. (PMID: 4169890) J Exp Med. 1993 Dec 1;178(6):1845-56. (PMID: 7902407) Trends Cell Biol. 1996 Sep;6(9):329-32. (PMID: 15157429) Pathol Res Pract. 1989 Aug;185(2):231-7. (PMID: 2798223) Am J Hum Genet. 1996 Sep;59(3):625-32. (PMID: 8751864) |
|---|---|
| Grant Information: | AI39824 United States AI NIAID NIH HHS; U19 HD077693 United States HD NICHD NIH HHS; AI39651 United States AI NIAID NIH HHS; P01 AI039824 United States AI NIAID NIH HHS; P01 AI039824-050002 United States AI NIAID NIH HHS; United Kingdom WT_ Wellcome Trust; P30 AR041943 United States AR NIAMS NIH HHS; 5P30-AR 41943 United States AR NIAMS NIH HHS |
| Substance Nomenclature: | 0 (DNA, Complementary) 0 (Intracellular Signaling Peptides and Proteins) 0 (LYST protein, human) 0 (Lyst protein, mouse) 0 (Proteins) 0 (RNA, Messenger) 0 (Vesicular Transport Proteins) |
| Entry Date(s): | Date Created: 19970701 Date Completed: 19970828 Latest Revision: 20240922 |
| Update Code: | 20240922 |
| PubMed Central ID: | PMC2871070 |
| DOI: | 10.1093/hmg/6.7.1091 |
| PMID: | 9215680 |
| Autor: | Barbosa MD; Department of Medicine, Center for Mammalian Genetics, University of Florida, Gainesville 32610-0221, USA., Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, Pastural E, Dufourcq-Lagelouse R, Fischer A, Holcombe RF, Wallace MR, Brandt SJ, de Saint Basile G, Kingsmore SF |
| Jazyk: | angličtina |
| Zdroj: | Human molecular genetics [Hum Mol Genet] 1997 Jul; Vol. 6 (7), pp. 1091-8. |
| DOI: | 10.1093/hmg/6.7.1091 |
| Abstrakt: | Chediak-Higashi syndrome is an autosomal recessive, immune deficiency disorder of human (CHS) and mouse (beige, bg) that is characterized by abnormal intracellular protein transport to, and from, the lysosome. Recent reports have described the identification of homologous genes that are mutated in human CHS and bg mice. Here we report the sequences of two major mRNA isoforms of the CHS gene in human and mouse. These isoforms differ both in size and in sequence at the 3' end of their coding domains, with the smaller isoform (approximately 5.8 kb) arising from incomplete splicing and reading through an intron. These mRNAs also differ in tissue distribution of transcription and in predicted biological properties. Novel mutations were identified within the region of the coding domain common to both isoforms in three CHS patients: C-->T transitions that generated stop codons (R50X and Q1029X) were found in two patients, and a novel frameshift mutation (deletion of nucleotides 3073 and 3074 of the coding domain) was found in a third. Northern blots of lymphoblastoid mRNA from CHS patients revealed loss of the largest transcript (approximately 13.5 kb) in two of seven CHS patients, while the small mRNA was undiminished in abundance. These results suggest that the small isoform alone cannot complement Chediak-Higashi syndrome. |
| Databáze: | MEDLINE |
| Externí odkaz: |
|