Analysis of the human ornithine aminotransferase gene family

Carmelann B. Zintz, George Inana

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Ornithine aminotransferase is a mitochondrial matrix enzyme that is deficient in patients with gyrate atrophy, an autosomal recessive disease of the eye. Southern blots of human DNA probed with a previously characterized OAT cDNA showed a complex pattern of gene fragments, suggesting a gene family. Hybridization of these blots with 5′ and 3′ OAT cDNA probes indicated that there are at least three to four copies of the OAT (approximately 22 kbp) and OAT-related gene sequence(s). We have isolated and partially characterized human OAT gene clones from total genomic and X-chromosome DNA libraries. Sequence analysis confirmed the following previously reported findings on the functional OAT gene: 11 exons, ten introns, an atypical TATA box (TTTAA), two CCAAT boxes, several GC-rich binding sites, 5′ sequence homologous to SV40 enhancer core sequence (GTGGA/GA/GA/GG) and promoter region of three urea cycle enzymes (GTATCCTGCCCTC). In addition, we extended the OAT gene sequence in both the 5′ and 3′ directions and found its promoter region also contained a sequence homologous to the progesterone receptor (TGTTCA/TCC/T), several of the glucocorticoid responsive element (AGAACA), a cyclic AMP-responsive element (TGACGTCG), and recognition motifs for transcription factors AP-2, NF1 and Sp1. Partial sequence analyses of X-chromosome clones demonstrated an intron-less pseudogene with 77% identity to the functional OAT gene. These results demonstrate that the OAT gene is a gene family that contains both functional and related OAT gene sequence(s).

Original languageEnglish
Pages (from-to)759-770
Number of pages12
JournalExperimental Eye Research
Volume50
Issue number6
DOIs
StatePublished - Jan 1 1990
Externally publishedYes

Fingerprint

Ornithine-Oxo-Acid Transaminase
Genes
X Chromosome
Sequence Homology
Genetic Promoter Regions
Introns
Sequence Analysis
Gyrate Atrophy
Transcription Factor AP-2
Complementary DNA
Clone Cells
TATA Box
Pseudogenes
Eye Diseases
Progesterone Receptors
Enzymes
Southern Blotting
Gene Library
Cyclic AMP
Glucocorticoids

Keywords

  • gyrate atrophy
  • human ornithine aminotransferase (OAT) gene
  • mitochondrial ketoacid transaminase
  • ornithine aminotransferase promoter
  • processed pseudogene
  • X-chromosome ornithine aminotransferase genes

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems

Cite this

Analysis of the human ornithine aminotransferase gene family. / Zintz, Carmelann B.; Inana, George.

In: Experimental Eye Research, Vol. 50, No. 6, 01.01.1990, p. 759-770.

Research output: Contribution to journalArticle

@article{7a9a1faf46d8484ea6118f7070c8ad4c,
title = "Analysis of the human ornithine aminotransferase gene family",
abstract = "Ornithine aminotransferase is a mitochondrial matrix enzyme that is deficient in patients with gyrate atrophy, an autosomal recessive disease of the eye. Southern blots of human DNA probed with a previously characterized OAT cDNA showed a complex pattern of gene fragments, suggesting a gene family. Hybridization of these blots with 5′ and 3′ OAT cDNA probes indicated that there are at least three to four copies of the OAT (approximately 22 kbp) and OAT-related gene sequence(s). We have isolated and partially characterized human OAT gene clones from total genomic and X-chromosome DNA libraries. Sequence analysis confirmed the following previously reported findings on the functional OAT gene: 11 exons, ten introns, an atypical TATA box (TTTAA), two CCAAT boxes, several GC-rich binding sites, 5′ sequence homologous to SV40 enhancer core sequence (GTGGA/GA/GA/GG) and promoter region of three urea cycle enzymes (GTATCCTGCCCTC). In addition, we extended the OAT gene sequence in both the 5′ and 3′ directions and found its promoter region also contained a sequence homologous to the progesterone receptor (TGTTCA/TCC/T), several of the glucocorticoid responsive element (AGAACA), a cyclic AMP-responsive element (TGACGTCG), and recognition motifs for transcription factors AP-2, NF1 and Sp1. Partial sequence analyses of X-chromosome clones demonstrated an intron-less pseudogene with 77{\%} identity to the functional OAT gene. These results demonstrate that the OAT gene is a gene family that contains both functional and related OAT gene sequence(s).",
keywords = "gyrate atrophy, human ornithine aminotransferase (OAT) gene, mitochondrial ketoacid transaminase, ornithine aminotransferase promoter, processed pseudogene, X-chromosome ornithine aminotransferase genes",
author = "Zintz, {Carmelann B.} and George Inana",
year = "1990",
month = "1",
day = "1",
doi = "10.1016/0014-4835(90)90126-F",
language = "English",
volume = "50",
pages = "759--770",
journal = "Experimental Eye Research",
issn = "0014-4835",
publisher = "Academic Press Inc.",
number = "6",

}

TY - JOUR

T1 - Analysis of the human ornithine aminotransferase gene family

AU - Zintz, Carmelann B.

AU - Inana, George

PY - 1990/1/1

Y1 - 1990/1/1

N2 - Ornithine aminotransferase is a mitochondrial matrix enzyme that is deficient in patients with gyrate atrophy, an autosomal recessive disease of the eye. Southern blots of human DNA probed with a previously characterized OAT cDNA showed a complex pattern of gene fragments, suggesting a gene family. Hybridization of these blots with 5′ and 3′ OAT cDNA probes indicated that there are at least three to four copies of the OAT (approximately 22 kbp) and OAT-related gene sequence(s). We have isolated and partially characterized human OAT gene clones from total genomic and X-chromosome DNA libraries. Sequence analysis confirmed the following previously reported findings on the functional OAT gene: 11 exons, ten introns, an atypical TATA box (TTTAA), two CCAAT boxes, several GC-rich binding sites, 5′ sequence homologous to SV40 enhancer core sequence (GTGGA/GA/GA/GG) and promoter region of three urea cycle enzymes (GTATCCTGCCCTC). In addition, we extended the OAT gene sequence in both the 5′ and 3′ directions and found its promoter region also contained a sequence homologous to the progesterone receptor (TGTTCA/TCC/T), several of the glucocorticoid responsive element (AGAACA), a cyclic AMP-responsive element (TGACGTCG), and recognition motifs for transcription factors AP-2, NF1 and Sp1. Partial sequence analyses of X-chromosome clones demonstrated an intron-less pseudogene with 77% identity to the functional OAT gene. These results demonstrate that the OAT gene is a gene family that contains both functional and related OAT gene sequence(s).

AB - Ornithine aminotransferase is a mitochondrial matrix enzyme that is deficient in patients with gyrate atrophy, an autosomal recessive disease of the eye. Southern blots of human DNA probed with a previously characterized OAT cDNA showed a complex pattern of gene fragments, suggesting a gene family. Hybridization of these blots with 5′ and 3′ OAT cDNA probes indicated that there are at least three to four copies of the OAT (approximately 22 kbp) and OAT-related gene sequence(s). We have isolated and partially characterized human OAT gene clones from total genomic and X-chromosome DNA libraries. Sequence analysis confirmed the following previously reported findings on the functional OAT gene: 11 exons, ten introns, an atypical TATA box (TTTAA), two CCAAT boxes, several GC-rich binding sites, 5′ sequence homologous to SV40 enhancer core sequence (GTGGA/GA/GA/GG) and promoter region of three urea cycle enzymes (GTATCCTGCCCTC). In addition, we extended the OAT gene sequence in both the 5′ and 3′ directions and found its promoter region also contained a sequence homologous to the progesterone receptor (TGTTCA/TCC/T), several of the glucocorticoid responsive element (AGAACA), a cyclic AMP-responsive element (TGACGTCG), and recognition motifs for transcription factors AP-2, NF1 and Sp1. Partial sequence analyses of X-chromosome clones demonstrated an intron-less pseudogene with 77% identity to the functional OAT gene. These results demonstrate that the OAT gene is a gene family that contains both functional and related OAT gene sequence(s).

KW - gyrate atrophy

KW - human ornithine aminotransferase (OAT) gene

KW - mitochondrial ketoacid transaminase

KW - ornithine aminotransferase promoter

KW - processed pseudogene

KW - X-chromosome ornithine aminotransferase genes

UR - http://www.scopus.com/inward/record.url?scp=0025340371&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025340371&partnerID=8YFLogxK

U2 - 10.1016/0014-4835(90)90126-F

DO - 10.1016/0014-4835(90)90126-F

M3 - Article

VL - 50

SP - 759

EP - 770

JO - Experimental Eye Research

JF - Experimental Eye Research

SN - 0014-4835

IS - 6

ER -