Structural Heterogeneity of Caucasian N-Acetyltransferase at the NAT1 Gene Locus
dc.contributor.author | Vatsis K. P. , | en_US |
dc.contributor.author | Weber W. W. , | en_US |
dc.date.accessioned | 2006-04-10T15:52:58Z | |
dc.date.available | 2006-04-10T15:52:58Z | |
dc.date.issued | 1993-02-15 | en_US |
dc.identifier.citation | Vatsis K. P., , Weber W. W., (1993/02/15)."Structural Heterogeneity of Caucasian N-Acetyltransferase at the NAT1 Gene Locus." Archives of Biochemistry and Biophysics 301(1): 71-76. <http://hdl.handle.net/2027.42/30962> | en_US |
dc.identifier.uri | http://www.sciencedirect.com/science/article/B6WB5-45PTR01-CG/2/c54362017f68fb9455bc237d50e4c0ad | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/30962 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=8442668&dopt=citation | en_US |
dc.description.abstract | The human N-acetylation polymorphism is a genetic trait phenotypically reflected by differences in N-acetyltransferase (NAT) activity with therapeutic agents (rapid and slow acetylation), but a genetic invariability in N-acetylation of some arylamine drugs is also known. There are two highly similar human NAT genes: NAT1 is thought to encode a genetically invariant protein, whereas NAT2 has conclusively been shown to represent a polymorphic locus. This study demonstrates the presence of discrete NAT1 structural variants among Caucasians. These were detected by direct sequencing of 1.6-kilobase NAT1 fragments generated by the polymerase chain reaction with liver and leukocyte DNA from 13 subjects of established acetylator phenotype and NAT2 genotype. A prominent alteration in one of the variants was obliteration of the consensus polyadenylation signal (AATAAA-->AAAAAA). Several mutations were discernible in all regions of the second variant allele, including silent (codon 153) and nonsilent (Ser-214-->Ala) substitutions in the coding region and deletion of nine bases from an AT-rich segment in the 3' untranslated region. One-half of the unrelated subjects were either homozygous or heterozygous for the mutant NAT1 alleles, both of which obeyed a Mendelian inheritance pattern. These novel results unambiguously show that human NAT1, like NAT2, is a polymorphic locus. | en_US |
dc.format.extent | 610908 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Elsevier | en_US |
dc.title | Structural Heterogeneity of Caucasian N-Acetyltransferase at the NAT1 Gene Locus | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Public Health | en_US |
dc.subject.hlbsecondlevel | Chemistry | en_US |
dc.subject.hlbsecondlevel | Chemical Engineering | en_US |
dc.subject.hlbsecondlevel | Biological Chemistry | en_US |
dc.subject.hlbtoplevel | Engineering | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI 48109, USA. | en_US |
dc.contributor.affiliationum | Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI 48109, USA. | en_US |
dc.identifier.pmid | 8442668 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/30962/1/0000635.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1006/abbi.1993.1116 | en_US |
dc.identifier.source | Archives of Biochemistry and Biophysics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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