One of the two genomic copies of the glycine decarboxylase cDNA has been deleted at a 5′ region in a patient with nonketotic hyperglycinemia

Sakakibara, Toshihiro; Koyata, H; Ishiguro, Y; Kure, Shigeo; Kume, Akihiro; Tada, Keiya; Hiraga, Kenji

doi:10.1016/s0006-291x(05)80858-7

Cited by 5 publications

(6 citation statements)

References 7 publications

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“…The patient was the offspring of nonconsanguineous parents, suggesting that the deletion may be prevalent in Japanese population. On the basis of results obtained by Southern blot analysis, we have previously suggested a deletion in the 5' region of GLDC from a Caucasian patient with NKH (Sakakibara et al 1990;Tada et al 1990). We have re-examined a DNA sample from this patient by exon amplification and found that exons 1 and 2, but not exon 3, are deleted (data not shown).…”

Section: Discussionmentioning

confidence: 99%

Human glycine decarboxylase gene ( GLDC) and its highly conserved processed pseudogene ( ψ GLDC) : their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia

et al. 2000

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Mutations in the glycine decarboxylase gene (GLDC) cause nonketotic hyperglycinemia (NKH), an in-born error of metabolism characterized by severe neurological disturbance. We have determined the structure of GLDC and of its pseudogene (psiGLDC) 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. The transcription initiation site has been assigned to a residue 163 bp upstream from the translation initiation triplet by primer extension analysis. The psiGLDC gene has no intron and shares 97.5% homology with the coding region of functional GLDC, suggesting that psiGLDC 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 homozygous deletion (at least 30 kb) in the patient. Furthermore, we have devised a semi-quantitative PCR to estimate the number of GLDC alleles by using psiGLDC 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 psiGLDC should facilitate the molecular analysis of NKH.

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Section: Discussionmentioning

confidence: 99%

Human glycine decarboxylase gene ( GLDC) and its highly conserved processed pseudogene ( ψ GLDC) : their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia

et al. 2000

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“…Of the genes for the three intrinsic components of the glycine cleavage system, the GDC gene is most prevalently responsible for defective glycine cleavage activity in patients with nonketotic hyperglycinemia (Kume et al, 1988;Sakakibara et al, 1990;Kure et al, 1991aKure et al, ,b, 2006Kanno et al, 2007). The deletion at 5′-regions of this gene has been assigned as a major cause of this disease (Sakakibara et al, 1990;Kanno et al, 2007). The present study suggested that the 5′-region of the chicken GDC gene by nature is likely flexible and mobile to accomplish the KXdependent and UpR-mediated regulation.…”

Section: Discussionmentioning

confidence: 99%

“…The isolation of chicken GDC cDNA clones helped to clone a human version of GDC cDNA (Kume et al, 1991). Sakakibara et al (1990) further clarified that the human genome possesses true and processed GDC genes, which were respectively assigned to 9p23-24 and 4q12 (Isobe et al, 1994). In humans, a defective glycine cleavage system causes nonketotic hyperglycinemia (Kikuchi, 1973;Kikuchi and Hiraga, 1982;Nyhan, 1989;Kikuchi et al, 2008).…”

Section: Introductionmentioning

confidence: 99%

“…In humans, a defective glycine cleavage system causes nonketotic hyperglycinemia (Kikuchi, 1973;Kikuchi and Hiraga, 1982;Nyhan, 1989;Kikuchi et al, 2008). Most patients with this disease had a molecular lesion in GDC and therefore in its genes (Kume et al, 1988;Sakakibara et al, 1990;Kure et al, 1991a,b;Takayanagi et al, 2000;Kure et al, 2006;Kanno et al, 2007). Notably, Sakakibara et al (1990) identified for the first time that the GDC gene of a patient with this disease had been deleted at a 5′-region.…”

Section: Introductionmentioning

confidence: 99%

“…Most patients with this disease had a molecular lesion in GDC and therefore in its genes (Kume et al, 1988;Sakakibara et al, 1990;Kure et al, 1991a,b;Takayanagi et al, 2000;Kure et al, 2006;Kanno et al, 2007). Notably, Sakakibara et al (1990) identified for the first time that the GDC gene of a patient with this disease had been deleted at a 5′-region. A recent study has confirmed that the deletion including a 5′-region of the human GDC gene is a major cause of nonketotic hyperglycinemia (Kanno et al, 2007).…”

Section: Introductionmentioning

confidence: 99%

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