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Titolo:
Human glycine decarboxylase gene (GLDC) and its highly conserved processedpseudogene (psi GLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia
Autore:
Takayanagi, M; Kure, S; Sakata, Y; Kurihara, Y; Ohya, Y; Kajita, M; Tada, K; Matsubara, Y; Narisawa, K;
Indirizzi:
Tohoku Univ, Sch Med, Dept Med Genet, Aoba Ku, Sendai, Miyagi 9808574, Japan Tohoku Univ Sendai Miyagi Japan 9808574 Ku, Sendai, Miyagi 9808574, Japan Nagoya Univ, Sch Med, Dept Pediat, Nagoya, Aichi 466, Japan Nagoya Univ Nagoya Aichi Japan 466 Dept Pediat, Nagoya, Aichi 466, Japan NTT Tohoku Hosp, Tohoku, Japan NTT Tohoku Hosp Tohoku JapanNTT Tohoku Hosp, Tohoku, Japan
Titolo Testata:
HUMAN GENETICS
fascicolo: 3, volume: 106, anno: 2000,
pagine: 298 - 305
SICI:
0340-6717(200003)106:3<298:HGDG(A>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
CLEAVAGE SYSTEM; PROTEIN GENE; TRANSCRIPTION; CHICKEN; PROMOTER; MUTATION; PATIENT;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
27
Recensione:
Indirizzi per estratti:
Indirizzo: Kure, S Tohoku Univ, Sch Med, Dept Med Genet, Aoba Ku, 1-1 Seiryo Machi, Sendai, Miyagi 9808574, Japan Tohoku Univ 1-1 Seiryo Machi Sendai Miyagi Japan 9808574 74, Japan
Citazione:
M. Takayanagi et al., "Human glycine decarboxylase gene (GLDC) and its highly conserved processedpseudogene (psi GLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia", HUM GENET, 106(3), 2000, pp. 298-305

Abstract

Mutations in the glycine decarboxylase gene (GLDC) cause nonketotic hyperglycinemia (NKH), an inborn error of metabolism characterized by severe neurological disturbance. We have determined the structure of GLDC and of its pseudogene (psi GLDC) and studied their expression for a molecular analysis of NKH. The GLDC gene spans at least 135 kb and consists of 25 exons. All donor and acceptor sites adhere to the canonical GT-AG rule, except for the donor site of intron 21, where a variant form GC is used instead of GT. Thetranscription initiation site has been assigned to a residue 163 bp upstream from the translation initiation triplet by primer extension analysis. The psi GLDC gene has no intron and shares 97.5% homology with the coding region of functional GLDC, suggesting that psi GLDC is a processed pseudogene that arose from the GLDC transcript about 4-8 million years ago. RNA blotting analysis has revealed that GLDC is expressed in human liver, kidney, brain, and placenta. We have also examined a patient with NKH with no detectable GLDC mRNA in his lymphoblasts. Exons 1-3 of the functional GLDC gene from this patient are not amplified by polymerase chain reaction (PCR), whereas those from control subjects are. These results suggest a large homozygousdeletion (at least 30 kb) in the patient. Furthermore, we have devised a semi-quantitative PCR to estimate the number of GLDC alleles by using psi GLDC as an internal control and have confirmed the homozygosity and heterozygosity of the deletion in the patient and his parents, respectively. Structural information of GLDC and psi GLDC should facilitate the molecular analysis of NKH.

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Documento generato il 15/07/20 alle ore 05:30:40