Literature DB >> 19345634

Quantitative RT-PCR comparison of the urea and nitric oxide cycle gene transcripts in adult human tissues.

Meaghan Anne Neill1, Judy Aschner, Frederick Barr, Marshall L Summar.   

Abstract

The urea cycle and nitric oxide cycle play significant roles in complex biochemical and physiologic reactions. These cycles have distinct biochemical goals including the clearance of waste nitrogen; the production of the intermediates ornithine, citrulline, and arginine for the urea cycle; and the production of nitric oxide for the nitric oxide pathway. Despite their disparate functions, the two pathways share two enzymes, argininosuccinic acid synthase and argininosuccinic acid lyase, and a transporter, citrin. Studying the gene expression of these enzymes is paramount in understanding these complex biochemical pathways. Here, we examine the expression of genes involved in the urea cycle and the nitric oxide cycle in a panel of eleven different tissue samples obtained from individual adults without known inborn errors of metabolism. In this study, the pattern of co-expressed enzymes provides a global view of the metabolic activity of the urea and nitric oxide cycles in human tissues. Our results show that these transcripts are differentially expressed in different tissues. Using the co-expression profiles, we discovered that the combination of expression of enzyme transcripts as detected in our study, might serve to fulfill specific physiologic function(s) including urea production/nitrogen removal, arginine/citrulline production, nitric oxide production, and ornithine production. Our study reveals the importance of studying not only the expression profile of an enzyme of interest, but also studying the expression profiles of the other enzymes involved in a particular pathway so as to better understand the context of expression. The tissue patterns we observed highlight the variety of important functions of these enzymes and provides insight into the many clinical observations that result from their disruption. These results have implications for the management of urea cycle patients and raise considerations for the care of those patients receiving liver transplants. Finally, this work reaffirms the concept that the co-expression of a few genes can significantly impact complex biochemical and physiologic processes.

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Year:  2009        PMID: 19345634      PMCID: PMC2680466          DOI: 10.1016/j.ymgme.2009.02.009

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN: 1096-7192            Impact factor:   4.797


  34 in total

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Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

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Journal:  Annu Rev Nutr       Date:  1992       Impact factor: 11.848

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Journal:  N Engl J Med       Date:  1989-06-01       Impact factor: 91.245

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Journal:  Annu Rev Genet       Date:  1986       Impact factor: 16.830

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Journal:  J Inherit Metab Dis       Date:  1998       Impact factor: 4.982

8.  Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I.

Authors:  Marshall L Summar; Lynn Hall; Brian Christman; Frederick Barr; Heidi Smith; Asha Kallianpur; Nancy Brown; Meeta Yadav; Alecia Willis; Angela Eeds; Emma Cermak; Samantha Summar; Ann Wilson; Molly Arvin; Allison Putnam; Melissa Wills; Gary Cunningham
Journal:  Mol Genet Metab       Date:  2004-04       Impact factor: 4.797

9.  Molecular studies on an ancient gene encoding for carbamoyl-phosphate synthetase.

Authors:  J P Schofield
Journal:  Clin Sci (Lond)       Date:  1993-02       Impact factor: 6.124

10.  Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function.

Authors:  Marshall L Summar; James V Gainer; Mias Pretorius; Hector Malave; Stephanie Harris; Lynn D Hall; Alec Weisberg; Douglas E Vaughan; Brian W Christman; Nancy J Brown
Journal:  Hypertension       Date:  2004-01-12       Impact factor: 10.190

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  17 in total

1.  Characterization of the human ornithine transcarbamylase 3' untranslated regulatory region.

Authors:  Monica Lopes-Marques; Isabel Pereira-Castro; António Amorim; Luisa Azevedo
Journal:  DNA Cell Biol       Date:  2011-11-04       Impact factor: 3.311

2.  Identification of temporal genes involved in the mechanisms of spinal cord injury.

Authors:  S Ma; J Wang; L Liu; L Xia; R Tao
Journal:  Spinal Cord       Date:  2017-01-10       Impact factor: 2.772

Review 3.  L-citrulline provides a novel strategy for treating chronic pulmonary hypertension in newborn infants.

Authors:  Candice D Fike; Marshall Summar; Judy L Aschner
Journal:  Acta Paediatr       Date:  2014-06-20       Impact factor: 2.299

4.  Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.

Authors:  Johannes Häberle; Oleg A Shchelochkov; Jing Wang; Panagiotis Katsonis; Lynn Hall; Sara Reiss; Angela Eeds; Alecia Willis; Meeta Yadav; Samantha Summar; Olivier Lichtarge; Vicente Rubio; Lee-Jun Wong; Marshall Summar
Journal:  Hum Mutat       Date:  2011-05-05       Impact factor: 4.878

5.  Carbamoyl phosphate synthetase-1 is a rapid turnover biomarker in mouse and human acute liver injury.

Authors:  Sujith V W Weerasinghe; You-Jin Jang; Robert J Fontana; M Bishr Omary
Journal:  Am J Physiol Gastrointest Liver Physiol       Date:  2014-06-12       Impact factor: 4.052

6.  Rescue Treatment with L-Citrulline Inhibits Hypoxia-Induced Pulmonary Hypertension in Newborn Pigs.

Authors:  Candice D Fike; Anna Dikalova; Mark R Kaplowitz; Gary Cunningham; Marshall Summar; Judy L Aschner
Journal:  Am J Respir Cell Mol Biol       Date:  2015-08       Impact factor: 6.914

Review 7.  Optimizing therapy for argininosuccinic aciduria.

Authors:  Sandesh C S Nagamani; Brendan Lee; Ayelet Erez
Journal:  Mol Genet Metab       Date:  2012-07-20       Impact factor: 4.797

8.  Effects of meals high in carbohydrate, protein, and fat on ghrelin and peptide YY secretion in prepubertal children.

Authors:  Jefferson P Lomenick; Maria S Melguizo; Sabrina L Mitchell; Marshall L Summar; James W Anderson
Journal:  J Clin Endocrinol Metab       Date:  2009-10-09       Impact factor: 5.958

9.  Infectious precipitants of acute hyperammonemia are associated with indicators of increased morbidity in patients with urea cycle disorders.

Authors:  Peter J McGuire; Hye-Seung Lee; Marshall L Summar
Journal:  J Pediatr       Date:  2013-09-29       Impact factor: 4.406

10.  Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.

Authors:  Liyan Hu; Amit V Pandey; Sandra Eggimann; Véronique Rüfenacht; Dorothea Möslinger; Jean-Marc Nuoffer; Johannes Häberle
Journal:  J Biol Chem       Date:  2013-10-17       Impact factor: 5.157

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