The molecular basis of Sanfilippo syndrome type B
(1996) In Proceedings of the National Academy of Sciences 93(12). p.6101-6105- Abstract
- The Sanfilippo syndrome type B is a lysosomal storage disorder caused by deficiency of alpha-N-acetylglucosaminidase; it is characterized by profound mental deterioration in childhood and death in the second decade. For understanding the molecular genetics of the disease and for future development of DNA-based therapy, we have cloned the cDNA and gene encoding alpha-N-acetylglucosaminidase. Cloning started with purification of the bovine enzyme and use of a conserved oligonucleotide sequence to probe a human cDNA library. The cDNA sequence was found to encode a protein of 743 amino acids, with a 20- to 23-aa signal peptide immediately preceding the amino terminus of the tissue enzyme and with six potential N-glycosylation sites. The 8.5-kb... (More)
- The Sanfilippo syndrome type B is a lysosomal storage disorder caused by deficiency of alpha-N-acetylglucosaminidase; it is characterized by profound mental deterioration in childhood and death in the second decade. For understanding the molecular genetics of the disease and for future development of DNA-based therapy, we have cloned the cDNA and gene encoding alpha-N-acetylglucosaminidase. Cloning started with purification of the bovine enzyme and use of a conserved oligonucleotide sequence to probe a human cDNA library. The cDNA sequence was found to encode a protein of 743 amino acids, with a 20- to 23-aa signal peptide immediately preceding the amino terminus of the tissue enzyme and with six potential N-glycosylation sites. The 8.5-kb gene (NAGLU), interrupted by 5 introns, was localized to the 5'-flanking sequence of a known gene, EDH17B, on chromosome 17q21. Five mutations were identified in cells of patients with Sanfilippo syndrome type B: 503del10, R297X, R626X, R643H, and R674H. The occurrence of a frameshift and a nonsense mutation in homozygous form confirms the identity of the NAGLU gene. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1110817
- author
- Zhao, H G ; Li, H H ; Bach, G ; Schmidtchen, Artur LU and Neufeld, E F
- publishing date
- 1996
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Proceedings of the National Academy of Sciences
- volume
- 93
- issue
- 12
- pages
- 6101 - 6105
- publisher
- National Academy of Sciences
- external identifiers
-
- pmid:8650226
- scopus:15844423859
- ISSN
- 1091-6490
- language
- English
- LU publication?
- no
- id
- d54bcc75-d70f-4664-ac6e-f604d162e1d4 (old id 1110817)
- alternative location
- http://www.pnas.org/content/93/12/6101.full.pdf+html
- date added to LUP
- 2016-04-01 11:59:51
- date last changed
- 2022-03-13 03:44:44
@article{d54bcc75-d70f-4664-ac6e-f604d162e1d4,
abstract = {{The Sanfilippo syndrome type B is a lysosomal storage disorder caused by deficiency of alpha-N-acetylglucosaminidase; it is characterized by profound mental deterioration in childhood and death in the second decade. For understanding the molecular genetics of the disease and for future development of DNA-based therapy, we have cloned the cDNA and gene encoding alpha-N-acetylglucosaminidase. Cloning started with purification of the bovine enzyme and use of a conserved oligonucleotide sequence to probe a human cDNA library. The cDNA sequence was found to encode a protein of 743 amino acids, with a 20- to 23-aa signal peptide immediately preceding the amino terminus of the tissue enzyme and with six potential N-glycosylation sites. The 8.5-kb gene (NAGLU), interrupted by 5 introns, was localized to the 5'-flanking sequence of a known gene, EDH17B, on chromosome 17q21. Five mutations were identified in cells of patients with Sanfilippo syndrome type B: 503del10, R297X, R626X, R643H, and R674H. The occurrence of a frameshift and a nonsense mutation in homozygous form confirms the identity of the NAGLU gene.}},
author = {{Zhao, H G and Li, H H and Bach, G and Schmidtchen, Artur and Neufeld, E F}},
issn = {{1091-6490}},
language = {{eng}},
number = {{12}},
pages = {{6101--6105}},
publisher = {{National Academy of Sciences}},
series = {{Proceedings of the National Academy of Sciences}},
title = {{The molecular basis of Sanfilippo syndrome type B}},
url = {{http://www.pnas.org/content/93/12/6101.full.pdf+html}},
volume = {{93}},
year = {{1996}},
}