ABCMdb

PMID: 7860075

Barcelo A, Giros M, Sarde CO, Pintos G, Mandel JL, Pampols T, Estivill X
De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene.
Hum Genet. 1995 Feb;95(2):235-7., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCD1 p.Tyr174Ser Hum Genet (1995) 95 :235-237 9 Springer-Verlag 1995 A. Barcel6 9M. Gir6s 9C. O. Sarde - G. Pintos J. L. Mandel 9T. P~tmpols 9X. Estivill De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene Received: 26 July 1994 / Revised: 9 September 1994 Abstract Adrenoleukodystrophy (ALD) is an X-linked disease, characterised by an alteration of the peroxisomal [3-oxidation of the very long chain fatty acids. Login to comment 2 ABCD1 p.Tyr174Ser ABCD1 p.Tyr174Ser We report here a new missense mutation in the ALD gene of a male patient, predicting a tyrosine to serine substitution at codon 174 (mutation Y174S). Login to comment 3 ABCD1 p.Tyr174Ser ABCD1 p.Tyr174Ser The mother of the ALD patient does not have the Y174S mutation in her leukocyte DNA, indicating that Y174S arose de novo in the patient. Login to comment 4 ABCD1 p.Tyr174Ser Y174S is the first reported de novo mutation in the ALD gene. Login to comment 34 ABCD1 p.Tyr174Ser Based on a modification of the PCR-mediated mutagenesis system (Gregersen et al. 1991), the 120-bp product was shown to contain two newly-created RsaI restriction sites on normal alleles, but only one in the product from alleles harbouring the Y174S mutation. Login to comment 41 ABCD1 p.Tyr174Ser The change was an A to a C, predicting a protein with serine at residue 174 instead of tyrosine (mutation Y174S) (Fig. l a, b). Login to comment 43 ABCD1 p.Tyr174Ser Missense mutation Y174S occurred in a conserved region of the ALDP (Mosser et al. 1993) and was not found in 80 normal X chromosomes or in 10 unrelated ALD X chromosomes analysed by PCR-mediated mutagenesis. Login to comment 44 ABCD1 p.Tyr174Ser Fig.la-c Missense mutation Y174S in the ALD gene. Login to comment 49 ABCD1 p.Tyr174Ser c Analysis of mutation Y174S by PCR-mediated mutagenesis. Login to comment 52 ABCD1 p.Tyr174Ser After Rsal digestion, mutation Y174S leads to a fragment of 99bp and a small one of 21 bp. Login to comment 53 ABCD1 p.Tyr174Ser ABCD1 p.Tyr174Ser Normal individuals give a fragment of 80bp and two small ones of 19 and 21 bp that co-migrate We studied the mother and sister of patient MC by direct sequencing and by PCR-mediated mutagenesis (Fig. l c), and they were found not to have mutation Y174S in their leukocytes, The negative data for mutation Y174S in the mother and sister of patient MC agree with their normal VLCFA levels in serum and fibroblasts. Login to comment 55 ABCD1 p.Tyr174Ser These results confirm that Y174S is a de novo mutation. Login to comment 58 ABCD1 p.Tyr174Ser As far as we know, Y174S is the first de novo mutation reported in the ALD gene. Login to comment