Literature DB >> 8188235

Structure and chromosomal localization of the aminomethyltransferase gene (AMT)

K Nanao1, G Takada, E Takahashi, N Seki, Y Komatsu, K Okamura-Ikeda, Y Motokawa, K Hayasaka.   

Abstract

The gene for human aminomethyltransferase (AMT), also known as the T-protein of the glycine cleavage system, was isolated from a human placental cosmid library and examined by restriction mapping, polymerase chain reaction analysis, and DNA sequencing. The gene is about 6 kb in length and consists of nine exons. The 5'-flanking region of the gene lacks typical TATAA sequence but has a single defined transcription initiation site detected by the primer extension method. Two putative glucocorticoid-responsive elements and a putative thyroid hormone-responsive element are present. The AMT gene was assigned to subband 3p21.2-p21.1 by fluorescence in situ hybridization.

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Year:  1994        PMID： 8188235     DOI： 10.1006/geno.1994.1007

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  10 in total

1.  Identification of Two Novel Mutations in Aminomethyltransferase Gene in Cases of Glycine Encephalopathy.

Authors:  Akella Radha Rama Devi; Lokesh Lingappa; Shaik Mohammad Naushad
Journal:  J Pediatr Genet       Date:  2018-07-06

2.  Genomic organization of the dog dystroglycan gene DAG1 locus on chromosome 20q15.1-q15.2.

Authors:  T Leeb; S Neumann; A Deppe; M Breen; B Brenig
Journal:  Genome Res       Date:  2000-03       Impact factor: 9.043

3.  Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia.

Authors:  Sarah L Nickerson; Shanti Balasubramaniam; Philippa A Dryland; Jennifer M Love; Maina P Kava; Donald R Love; Debra O Prosser
Journal:  J Pediatr Genet       Date:  2016-06-15

4.  Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.

Authors:  Junko Kanno; Tim Hutchin; Fumiaki Kamada; Ayumi Narisawa; Yoko Aoki; Yoichi Matsubara; Shigeo Kure
Journal:  J Med Genet       Date:  2007-03       Impact factor: 6.318

5.  Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.

Authors:  K Nanao; K Okamura-Ikeda; Y Motokawa; D M Danks; E R Baumgartner; G Takada; K Hayasaka
Journal:  Hum Genet       Date:  1994-06       Impact factor: 4.132

6.  Bioinformatic and genetic association analysis of microRNA target sites in one-carbon metabolism genes.

Authors:  Nicole Stone; Faith Pangilinan; Anne M Molloy; Barry Shane; John M Scott; Per Magne Ueland; James L Mills; Peader N Kirke; Praveen Sethupathy; Lawrence C Brody
Journal:  PLoS One       Date:  2011-07-12       Impact factor: 3.240

7.  A transcriptome derived female-specific marker from the invasive Western mosquitofish (Gambusia affinis).

Authors:  Dunja K Lamatsch; Sofia Adolfsson; Alistair M Senior; Guntram Christiansen; Maria Pichler; Yuichi Ozaki; Linnea Smeds; Manfred Schartl; Shinichi Nakagawa
Journal:  PLoS One       Date:  2015-02-23       Impact factor: 3.240

8.  Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.

Authors:  Joseph T Alaimo; Arnaud Besse; Charlotte L Alston; Ki Pang; Vivek Appadurai; Monisha Samanta; Patroula Smpokou; Robert McFarland; Robert W Taylor; Penelope E Bonnen
Journal:  Hum Mutat       Date:  2018-01-22       Impact factor: 4.878

9.  The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

Authors:  Curtis R Coughlin; Michael A Swanson; Kathryn Kronquist; Cécile Acquaviva; Tim Hutchin; Pilar Rodríguez-Pombo; Marja-Leena Väisänen; Elaine Spector; Geralyn Creadon-Swindell; Ana M Brás-Goldberg; Elisa Rahikkala; Jukka S Moilanen; Vincent Mahieu; Gert Matthijs; Irene Bravo-Alonso; Celia Pérez-Cerdá; Magdalena Ugarte; Christine Vianey-Saban; Gunter H Scharer; Johan L K Van Hove
Journal:  Genet Med       Date:  2016-06-30       Impact factor: 8.822

Review 10.  Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force.

Authors:  Sterre van der Veen; Rodi Zutt; Christine Klein; Connie Marras; Samuel F Berkovic; John N Caviness; Hiroshi Shibasaki; Tom J de Koning; Marina A J Tijssen
Journal:  Mov Disord       Date:  2019-10-04       Impact factor: 10.338
  10 in total

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