DOI: 10.1126/science.1546315. A Human Gene Responsible for Zellweger Syndrome That Affects Peroxisome Assembly

A Human Gene Responsible for Zellweger Syndrome That Affects Peroxisome Assembly

10.1126/science.1546315

Crossref journal-article

American Association for the Advancement of Science (AAAS)

Science (221)

Abstract

The primary defect arising from Zellweger syndrome appears to be linked to impaired assembly of peroxisomes. A human complementary DNA has been cloned that complements the disease's symptoms (including defective peroxisome assembly) in fibroblasts from a patient with Zellweger syndrome. The cause of the syndrome in this patient was a point mutation that resulted in the premature termination of peroxisome assembly factor-1. The homozygous patient apparently inherited the mutation from her parents, each of whom was heterozygous for that mutation.

Authors 7

Nobuyuki Shimozawa (first)
Toshiro Tsukamoto (additional)
Yasuyuki Suzuki (additional)
Tadao Orii (additional)
Yasuaki Shirayoshi (additional)
Takeshi Mori (additional)
Yukio Fujiki (additional)

References 20 Referenced 283

BOWEN, P, FAMILIAL SYNDROME OF MULTIPLE CONGENITAL DEFECTS, BULLETIN OF THE JOHNS HOPKINS HOSPITAL 114: 402 (1964). / BULLETIN OF THE JOHNS HOPKINS HOSPITAL (1964)
BRUL, S, GENETIC-HETEROGENEITY IN THE CEREBROHEPATORENAL (ZELLWEGER) SYNDROME AND OTHER INHERITED DISORDERS WITH A GENERALIZED IMPAIRMENT OF PEROXISOMAL FUNCTIONS - A STUDY USING COMPLEMENTATION ANALYSIS, JOURNAL OF CLINICAL INVESTIGATION 81: 1710 (1988). (10.1172/JCI113510) / JOURNAL OF CLINICAL INVESTIGATION (1988)
CHEN, C, HIGH-EFFICIENCY TRANSFORMATION OF MAMMALIAN-CELLS BY PLASMID DNA, MOLECULAR AND CELLULAR BIOLOGY 7: 2745 (1987). / MOLECULAR AND CELLULAR BIOLOGY (1987)
10.1021/bi00591a005
GOLDBERG, D.A., ISOLATION AND PARTIAL CHARACTERIZATION OF THE DROSOPHILA ALCOHOL-DEHYDROGENASE GENE, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES 77: 5794 (1980). / PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES (1980)
10.1126/science.182.4107.62
Lazarow P. B. The Metabolic Basis of Inherited Disease 6: 1479 (1989).
McKusick, V. A., Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive and X-linked Phenotypes: 1087 (1990). / Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive and X-linked Phenotypes (1990)
ROSCHER, A.A., GENETIC AND PHENOTYPIC HETEROGENEITY IN DISORDERS OF PEROXISOME BIOGENESIS - A COMPLEMENTATION STUDY INVOLVING CELL-LINES FROM 19 PATIENTS, PEDIATRIC RESEARCH 26: 67 (1989). (10.1203/00006450-198907000-00019) / PEDIATRIC RESEARCH (1989)
10.1126/science.2448875
Sambrook J. Molecular Cloning: A Laboratory Manual 2 (1989).
10.1126/science.3281254
SHIMOZAWA N unpublished data.
SUZUKI, Y, NONSPECIFIC LIPID TRANSFER PROTEIN (STEROL CARRIER PROTEIN-2) DEFECTIVE IN PATIENTS WITH DEFICIENT PEROXISOMES, CELL STRUCTURE AND FUNCTION 15: 301 (1990). (10.1247/csf.15.301) / CELL STRUCTURE AND FUNCTION (1990)
TSUKAMOTO, T, ISOLATION AND CHARACTERIZATION OF CHINESE HAMSTER OVARY CELL MUTANTS DEFECTIVE IN ASSEMBLY OF PEROXISOMES, JOURNAL OF CELL BIOLOGY 110: 651 (1990). (10.1083/jcb.110.3.651) / JOURNAL OF CELL BIOLOGY (1990)
TSUKAMOTO, T, RESTORATION BY A 35K MEMBRANE-PROTEIN OF PEROXISOME ASSEMBLY IN A PEROXISOME-DEFICIENT MAMMALIAN-CELL MUTANT, NATURE 350: 77 (1991). (10.1038/350077a0) / NATURE (1991)
WANDERS, RJA, PEROXISOMAL DISORDERS IN NEUROLOGY, JOURNAL OF THE NEUROLOGICAL SCIENCES 88: 1 (1988). (10.1016/0022-510X(88)90203-1) / JOURNAL OF THE NEUROLOGICAL SCIENCES (1988)
WIEMER, EAC, PRESENCE OF PEROXISOMAL MEMBRANE-PROTEINS IN LIVER AND FIBROBLASTS FROM PATIENTS WITH THE ZELLWEGER SYNDROME AND RELATED DISORDERS - EVIDENCE FOR THE EXISTENCE OF PEROXISOMAL GHOSTS, EUROPEAN JOURNAL OF CELL BIOLOGY 50: 407 (1989). / EUROPEAN JOURNAL OF CELL BIOLOGY (1989)
Yajima, S, Human Genetics 88: 491 (1992). (10.1007/BF00219334) / Human Genetics (1992)
ZOELLER, R.A., CHINESE-HAMSTER OVARY CELL MUTANTS DEFECTIVE IN PEROXISOME BIOGENESIS - COMPARISON TO ZELLWEGER SYNDROME, JOURNAL OF BIOLOGICAL CHEMISTRY 264: 21872 (1989). (10.1016/S0021-9258(20)88265-9) / JOURNAL OF BIOLOGICAL CHEMISTRY (1989)

Dates

Type	When
Created	18 years, 10 months ago (Oct. 5, 2006, 7:03 p.m.)
Deposited	1 year, 7 months ago (Jan. 11, 2024, 4:28 a.m.)
Indexed	3 weeks, 1 day ago (Aug. 5, 2025, 8:52 a.m.)
Issued	33 years, 6 months ago (Feb. 28, 1992)
Published	33 years, 6 months ago (Feb. 28, 1992)
Published Print	33 years, 6 months ago (Feb. 28, 1992)

Funders 0

None

BibTeX

@article{Shimozawa_1992, title={A Human Gene Responsible for Zellweger Syndrome That Affects Peroxisome Assembly}, volume={255}, ISSN={1095-9203}, url={http://dx.doi.org/10.1126/science.1546315}, DOI={10.1126/science.1546315}, number={5048}, journal={Science}, publisher={American Association for the Advancement of Science (AAAS)}, author={Shimozawa, Nobuyuki and Tsukamoto, Toshiro and Suzuki, Yasuyuki and Orii, Tadao and Shirayoshi, Yasuaki and Mori, Takeshi and Fujiki, Yukio}, year={1992}, month=feb, pages={1132–1134} }

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