Assignment of the genes for human lysosomal acid lipases A and B to chromosomes 10 and 16 View Full Text


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Article Info

DATE

1980-09

AUTHORS

Nguyen Van Cong, D. Weil, M. C. Hors-Cayla, M. S. Gross, S. Heuertz, C. Foubert, J. Frezal

ABSTRACT

Twenty-three independent man-hamster (CH/HGPRT-) hybrids were analysed for human acid lipases and for some other human enzyme markers (PP, GOT 1, PGP) and chromosomes. Eighteen independent man-mouse (LA/HGPRT-TK−) hybrids were analysed for human acid lipases, human enzyme marker PGP and human chromosomes. Three fibroblasts from unrelated patients with WD (Wolman's disease), one fibroblast from a heterozygote for WD, and 15 normal fibroblasts were analysed for acid lipases. The following results were obtained:A positive correlation was observed between acid lipase A and Chr. 10, and between acid lipase B and Chr. 16. In fact, among 23 independent man-hamster hybrids, 6 were Chr. 10+PP+GOT 1+LIP A+ and 17 were Chr. 10-PP-GOT 1-LIP A-, and among 41 independent man-rodent hybrids 23 were Chr. 16+ PGP+LIP B+ and 18 were Chr. 16-PGP-LIP B-. Except for Chr. 10, the other autosomes were observed in hybrids LIP A−, and except for Chr. 16, the other autosomes were observed in hybrids LIP B-.These results indicate that the gene for lipase A is on Chr. 10 and the gene for lipase B is on Chr. 16.The acid lipase A is deficient in WD fibroblasts. Therefore the mutation responsible for WD is on Chr. 10. The B, C and at least three additional lipases were observed in WD fibroblasts and in WD heterozygote fibroblasts at pH 4.0 and with 4-methylumbelliferyl oleate as substrate. The relationship between these different acid lipases are obscure. In the normal fibroblasts from healthy control subjects a considerable variation in acid lipase A activity was observed. In some normal fibroblasts from healthy control subjects, in which the lipase A is reduced, we observed the same acid lipase zymogram pattern as in WD heterozygote fibroblasts. A positive correlation was observed between acid lipase A and Chr. 10, and between acid lipase B and Chr. 16. In fact, among 23 independent man-hamster hybrids, 6 were Chr. 10+PP+GOT 1+LIP A+ and 17 were Chr. 10-PP-GOT 1-LIP A-, and among 41 independent man-rodent hybrids 23 were Chr. 16+ PGP+LIP B+ and 18 were Chr. 16-PGP-LIP B-. Except for Chr. 10, the other autosomes were observed in hybrids LIP A−, and except for Chr. 16, the other autosomes were observed in hybrids LIP B-. These results indicate that the gene for lipase A is on Chr. 10 and the gene for lipase B is on Chr. 16. The acid lipase A is deficient in WD fibroblasts. Therefore the mutation responsible for WD is on Chr. 10. The B, C and at least three additional lipases were observed in WD fibroblasts and in WD heterozygote fibroblasts at pH 4.0 and with 4-methylumbelliferyl oleate as substrate. The relationship between these different acid lipases are obscure. In the normal fibroblasts from healthy control subjects a considerable variation in acid lipase A activity was observed. In some normal fibroblasts from healthy control subjects, in which the lipase A is reduced, we observed the same acid lipase zymogram pattern as in WD heterozygote fibroblasts. More... »

PAGES

375-381

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00290221

DOI

http://dx.doi.org/10.1007/bf00290221

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1006759361

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/6937431


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41 schema:description Twenty-three independent man-hamster (CH/HGPRT-) hybrids were analysed for human acid lipases and for some other human enzyme markers (PP, GOT 1, PGP) and chromosomes. Eighteen independent man-mouse (LA/HGPRT-TK−) hybrids were analysed for human acid lipases, human enzyme marker PGP and human chromosomes. Three fibroblasts from unrelated patients with WD (Wolman's disease), one fibroblast from a heterozygote for WD, and 15 normal fibroblasts were analysed for acid lipases. The following results were obtained:A positive correlation was observed between acid lipase A and Chr. 10, and between acid lipase B and Chr. 16. In fact, among 23 independent man-hamster hybrids, 6 were Chr. 10+PP+GOT 1+LIP A+ and 17 were Chr. 10-PP-GOT 1-LIP A-, and among 41 independent man-rodent hybrids 23 were Chr. 16+ PGP+LIP B+ and 18 were Chr. 16-PGP-LIP B-. Except for Chr. 10, the other autosomes were observed in hybrids LIP A−, and except for Chr. 16, the other autosomes were observed in hybrids LIP B-.These results indicate that the gene for lipase A is on Chr. 10 and the gene for lipase B is on Chr. 16.The acid lipase A is deficient in WD fibroblasts. Therefore the mutation responsible for WD is on Chr. 10. The B, C and at least three additional lipases were observed in WD fibroblasts and in WD heterozygote fibroblasts at pH 4.0 and with 4-methylumbelliferyl oleate as substrate. The relationship between these different acid lipases are obscure. In the normal fibroblasts from healthy control subjects a considerable variation in acid lipase A activity was observed. In some normal fibroblasts from healthy control subjects, in which the lipase A is reduced, we observed the same acid lipase zymogram pattern as in WD heterozygote fibroblasts. A positive correlation was observed between acid lipase A and Chr. 10, and between acid lipase B and Chr. 16. In fact, among 23 independent man-hamster hybrids, 6 were Chr. 10+PP+GOT 1+LIP A+ and 17 were Chr. 10-PP-GOT 1-LIP A-, and among 41 independent man-rodent hybrids 23 were Chr. 16+ PGP+LIP B+ and 18 were Chr. 16-PGP-LIP B-. Except for Chr. 10, the other autosomes were observed in hybrids LIP A−, and except for Chr. 16, the other autosomes were observed in hybrids LIP B-. These results indicate that the gene for lipase A is on Chr. 10 and the gene for lipase B is on Chr. 16. The acid lipase A is deficient in WD fibroblasts. Therefore the mutation responsible for WD is on Chr. 10. The B, C and at least three additional lipases were observed in WD fibroblasts and in WD heterozygote fibroblasts at pH 4.0 and with 4-methylumbelliferyl oleate as substrate. The relationship between these different acid lipases are obscure. In the normal fibroblasts from healthy control subjects a considerable variation in acid lipase A activity was observed. In some normal fibroblasts from healthy control subjects, in which the lipase A is reduced, we observed the same acid lipase zymogram pattern as in WD heterozygote fibroblasts.
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