Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families.
| References: | Cell. 1990 Nov 2;63(3):579-90. (PMID: 1977522) Cell. 1992 May 29;69(5):719-22. (PMID: 1591773) Gene. 1991 Feb 15;98(2):253-7. (PMID: 1673109) EMBO J. 1991 May;10(5):1135-47. (PMID: 2022185) Mech Dev. 1990 Dec;33(1):27-37. (PMID: 1982921) Cell. 1991 Nov 1;67(3):517-28. (PMID: 1682054) Oncogene. 1992 Sep;7(9):1721-8. (PMID: 1354346) Otolaryngol Clin North Am. 1992 Oct;25(5):935-51. (PMID: 1408197) Proc Natl Acad Sci U S A. 1993 Jan 15;90(2):532-6. (PMID: 8421686) Am J Hum Genet. 1993 Mar;52(3):455-62. (PMID: 8447316) Nat Genet. 1993 Jan;3(1):26-30. (PMID: 8490648) Hum Mol Genet. 1992 Jul;1(4):243-7. (PMID: 1303193) Nat Genet. 1993 Feb;3(2):113-7. (PMID: 8098985) Genomics. 1993 Aug;17(2):355-63. (PMID: 8406486) Genomics. 1993 Aug;17(2):364-9. (PMID: 8406487) Nat Genet. 1993 Sep;5(1):8. (PMID: 8220430) Nature. 1981 Jan 22;289(5795):244-50. (PMID: 6256656) Proc Natl Acad Sci U S A. 1981 Sep;78(9):5759-63. (PMID: 6272317) Nature. 1984 Mar 29-Apr 4;308(5958):428-33. (PMID: 6323992) Cell. 1984 Oct;38(3):675-80. (PMID: 6091896) Proc Natl Acad Sci U S A. 1984 Nov;81(21):6812-6. (PMID: 6093122) Cell. 1986 Dec 26;47(6):1033-40. (PMID: 2877747) Nucleic Acids Res. 1988 Aug 25;16(16):8186. (PMID: 3047679) Genetics. 1988 Nov;120(3):621-3. (PMID: 2852134) EMBO J. 1989 Apr;8(4):1183-90. (PMID: 2501086) Biochim Biophys Acta. 1989 Jul 28;989(1):25-48. (PMID: 2568852) J Lab Clin Med. 1989 Aug;114(2):105-13. (PMID: 2787825) Cell. 1990 Feb 9;60(3):375-86. (PMID: 2302733) Nature. 1990 Apr 26;344(6269):876-9. (PMID: 1970421) J Mol Biol. 1990 Jul 5;214(1):183-97. (PMID: 2164583) Science. 1990 Jul 27;249(4967):374-9. (PMID: 1974085) EMBO J. 1990 Oct;9(10):3085-92. (PMID: 1976507) Hum Mol Genet. 1993 Sep;2(9):1487-8. (PMID: 7902163) Nat Genet. 1993 Nov;5(3):230-5. (PMID: 8275086) Hum Mol Genet. 1994 Jan;3(1):197-8. (PMID: 8162027) Nat Genet. 1992 Nov;2(3):232-9. (PMID: 1345175) Am J Hum Genet. 1994 Oct;55(4):728-37. (PMID: 7942851) Am J Hum Genet. 1951 Sep;3(3):195-253. (PMID: 14902764) Genes Dev. 1991 Apr;5(4):594-604. (PMID: 1672661) Cell. 1991 Nov 15;67(4):767-74. (PMID: 1682057) Nature. 1992 Feb 13;355(6361):635-6. (PMID: 1347148) Nature. 1992 Feb 13;355(6361):637-8. (PMID: 1347149) Cell. 1989 Aug 25;58(4):741-53. (PMID: 2504497) |
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| Gene Symbol: | PAX3; Pax-3 |
| Substance Nomenclature: | 0 (DNA, Complementary) 0 (DNA-Binding Proteins) 0 (PAX3 Transcription Factor) 0 (PAX3 protein, human) 0 (Paired Box Transcription Factors) 0 (Transcription Factors) 138016-91-8 (Pax3 protein, mouse) |
| Entry Date(s): | Date Created: 19950101 Date Completed: 19950213 Latest Revision: 20200824 |
| Update Code: | 20240829 |
| PubMed Central ID: | PMC1801294 |
| PMID: | 7825605 |
| Autor: | Lalwani AK; Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda., Brister JR, Fex J, Grundfast KM, Ploplis B, San Agustin TB, Wilcox ER |
| Jazyk: | angličtina |
| Zdroj: | American journal of human genetics [Am J Hum Genet] 1995 Jan; Vol. 56 (1), pp. 75-83. |
| Abstrakt: | Waardenburg syndrome is an autosomal dominant disorder characterized by sensorineural deafness and pigmentary disturbances. Previous work has linked the disease to PAX3 on chromosome 2, and several mutations within the highly conserved paired-box and octapeptide motifs, but not the homeobox, have been reported. In this report, we have used the published cDNA sequence to further define the genomic structure of PAX3, using inverse PCR. We have identified exon/intron boundaries between exons 5 and 6 and between exons 6 and 7. Further, we have identified the first two mutations within the homeobox in two different families with type 1 Waardenburg syndrome. The first is a point mutation (G-->T) at the first base of exon 6, which substitutes phenylalanine for valine. In another family, we have identified a point mutation (C-->G) within the homebox, in exon 6, which substitutes a glycine for arginine at a highly conserved site. The homeodomain is important in binding of DNA and in effecting transcriptional control. These mutations likely result in structural change within the homeodomain that either change the DNA-binding specificity of the homedomain or reduce the affinity of the PAX3 protein for DNA. These homeodomain mutations should aid in elucidating the role of the homeodomain in the function of the PAX3 protein. |
| Databáze: | MEDLINE |
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