FISH mapping of three ammonia metabolism genes (Glul, Cps1, Glud1) in rat, and the chromosomal localization of GLUL in human and Cps1 in mouse

Helou, Khalil; Das, Atze T.; Lamers, Wouter H.; Hoovers, J. M. N.; Szpirer, Claude; Szpirer, Josiane; Klinga-Levan, Karin; Levan, Göran

doi:10.1007/s003359900442

Cited by 15 publications

(6 citation statements)

References 12 publications

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“…We have recently shown localization of human and mouse TN-R genes to chromosomes 1q24 and 4E, respectively (Arrigo et al, 1997). The rat TN-R gene mapping to 13q23 corroborated the observations that RNO 13-HSA 1q represents a conserved chromosome segment (Helou et al, 1997;Remmers et al, 1993), and suggested a possible synteny between human 1q24, mouse 4E, and rat 13q23 chromosomes.…”

Section: Discussionsupporting

confidence: 61%

Rat tenascin-R gene: structure, chromosome location and transcriptional activity of promoter and exon 1

Leprini¹,

Gherzi²,

Vecchi³

et al. 1998

Cytogenet Genome Res

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Tenascin-R is an extracellular matrix protein expressed exclusively in the central nervous system where it is thought to play a relevant role in regulating neurite outgrowth. We have i) cloned the cDNA of the rat tenascin-R 5′ region; ii) defined its genomic organization, obtaining the sequence of two novel untranslated exons; iii) mapped the gene to rat chromosome 13q23 and suggested a previously unreported synteny between rat chromosome 13q23, human chromosome 1q24, and mouse chromosome 4E; and iv) sequenced and characterized the elements responsible for its neural cell-restricted transcription. We found that two discrete regions of the rat gene (the first in the proximal promoter, the second in the first exon) are independently able to activate to a high degree the transcription of a reporter gene in either human or rat neuroblastoma cell lines but not in other cell lines. Based on this observation, we re-evaluated the arrangement of transcriptionally active regions in the human tenascin-R gene we recently cloned and found that the human gene also contains an exon sequence able to initiate and sustain transcription independently of promoter sequences.

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Section: Discussionsupporting

confidence: 61%

Rat tenascin-R gene: structure, chromosome location and transcriptional activity of promoter and exon 1

Leprini¹,

Gherzi²,

Vecchi³

et al. 1998

Cytogenet Genome Res

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“…In humans, GLUL maps to 1q31 [59], and covers 10 kb (Ensembl, ENSG00000135821). One pseudogene and three GLUL -like genes have been described, but their function is not fully understood [60].…”

Section: Molecular Genetics Of Glutamine Synthetase Deficiencymentioning

confidence: 99%

Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis

Spodenkiewicz

Dı́ez-Fernández

Rüfenacht

et al. 2016

Biology

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Glutamine synthetase (GS) is a cytosolic enzyme that produces glutamine, the most abundant free amino acid in the human body. Glutamine is a major substrate for various metabolic pathways, and is thus an important factor for the functioning of many organs; therefore, deficiency of glutamine due to a defect in GS is incompatible with normal life. Mutations in the human GLUL gene (encoding for GS) can cause an ultra-rare recessive inborn error of metabolism—congenital glutamine synthetase deficiency. This disease was reported until now in only three unrelated patients, all of whom suffered from neonatal onset severe epileptic encephalopathy. The hallmark of GS deficiency in these patients was decreased levels of glutamine in body fluids, associated with chronic hyperammonemia. This review aims at recapitulating the clinical history of the three known patients with congenital GS deficiency and summarizes the findings from studies done along with the work-up of these patients. It is the aim of this paper to convince the reader that (i) this disorder is possibly underdiagnosed, since decreased concentrations of metabolites do not receive the attention they deserve; and (ii) early detection of GS deficiency may help to improve the outcome of patients who could be treated early with metabolites that are lacking in this condition.

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“…Also in this case the issue was complicated by the fact that LB210 and sublines were positive for some genes and negative for others known to be located on these two chromosomes (WALTER et al 1996). Thus, LB210 and sublines were negative for markers on the short arm of RN016 (including Gludl mapping to RNO16p16;HELOU et al 1997). Similarly, LB210 and sublines were negative for markers on the short arm of RNO17, including members of the histone cluster, which is located very close to the centromere on the short arm of RN017 (RN017p12-pll; WALTER et al 1996).…”

Section: Resultsmentioning

confidence: 99%

Karyotype Analysis of Interspecific Rat/Mouse Somatic Cell Hybrids by Reverse Chromosome Painting

2004

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FISH mapping of three ammonia metabolism genes (Glul, Cps1, Glud1) in rat, and the chromosomal localization of GLUL in human and Cps1 in mouse

Abstract: FISH mapping of three ammonia metabolism genes (Glul, Cps1, Glud1) in rat, and the chromosomal localization of GLUL in human and Cps1 in mouse Helou, K.; Das, A.T.; Lamers, W.H.; Hoovers, J.M.N.; Szpirer, C.; Szpirer, J.; Klinga-Levan, K.; Levan, G.

Cited by 15 publications

References 12 publications

Rat tenascin-R gene: structure, chromosome location and transcriptional activity of promoter and exon 1

Rat tenascin-R gene: structure, chromosome location and transcriptional activity of promoter and exon 1

Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis

Karyotype Analysis of Interspecific Rat/Mouse Somatic Cell Hybrids by Reverse Chromosome Painting

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