Literature DB >> 1478665

The L-isoaspartyl/D-aspartyl protein methyltransferase gene (PCMT1) maps to human chromosome 6q22.3-6q24 and the syntenic region of mouse chromosome 10.

D C MacLaren1, C M O'Connor, Y R Xia, M Mehrabian, I Klisak, R S Sparkes, S Clarke, A J Lusis.   

Abstract

We have mapped the genes for the human and mouse L-isoaspartyl/D-aspartyl protein carboxyl methyltransferase (EC 2.1.1.77) using cDNA probes. We determined that the human gene is present in chromosome 6 by Southern blot analysis of DNA from a panel of mouse-human somatic cell hybrids. In situ hybridization studies allowed us to confirm this identification and further localize the human gene (PCMT1) to the 6q22.3-6q24 region. By analyzing the presence of an EcoRI polymorphism in DNA from backcrosses of C57BL/6J and Mus spretus strains of mice, we localized the mouse gene (Pcmt-1) to chromosome 10, at a position 8.2 +/- 3.5 cM proximal to the Myb locus. This region of the mouse chromosome is homologous to the human 6q24 region.

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Year:  1992        PMID: 1478665     DOI: 10.1016/s0888-7543(05)80104-1

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


  5 in total

1.  Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities.

Authors:  J Sainz; B A Minassian; J M Serratosa; M N Gee; L M Sakamoto; R Iranmanesh; S Bohlega; R J Baumann; S Ryan; R S Sparkes; A V Delgado-Escueta
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

2.  Deficiency of a protein-repair enzyme results in the accumulation of altered proteins, retardation of growth, and fatal seizures in mice.

Authors:  E Kim; J D Lowenson; D C MacLaren; S Clarke; S G Young
Journal:  Proc Natl Acad Sci U S A       Date:  1997-06-10       Impact factor: 11.205

Review 3.  Deficiency in protein L-isoaspartyl methyltransferase results in a fatal progressive epilepsy.

Authors:  A Yamamoto; H Takagi; D Kitamura; H Tatsuoka; H Nakano; H Kawano; H Kuroyanagi; Y Yahagi; S Kobayashi; K Koizumi; T Sakai; K Saito; T Chiba; K Kawamura; K Suzuki; T Watanabe; H Mori; T Shirasawa
Journal:  J Neurosci       Date:  1998-03-15       Impact factor: 6.167

4.  A known functional polymorphism (Ile120Val) of the human PCMT1 gene and risk of spina bifida.

Authors:  Huiping Zhu; Wei Yang; Wei Lu; Jing Zhang; Gary M Shaw; Edward J Lammer; Richard H Finnell
Journal:  Mol Genet Metab       Date:  2005-10-26       Impact factor: 4.797

5.  Double stranded scission of DNA directed through sequence-specific R-loop formation.

Authors:  R Landgraf; C H Chen; D S Sigman
Journal:  Nucleic Acids Res       Date:  1995-09-11       Impact factor: 16.971

  5 in total

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