caa a22 4500 397574797 CHVBK 20180308164852.0 cr unu---uuuuu 161202e199602 xx s 000 0 eng 10.1093/hmg/5.2.275 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.2.275 A Candidate Gene for Mild Mental Handicap at the Fraxe Fragile Site [Elektronische Daten] [Lisa Chakrabarti, Samantha J. L. Knight, Angela V. Flannery, Kay E. Davies] The cytogenetic expression of the folate sensitive fragile site, FRAXE, is due to the expansion of a GCC repeat in proximal Xq28 of the human X chromosome and is associated with a mild form of mental handicap. Normal individuals have 6-35 copies of the repeat whereas cytogenetically positive, developmentally delayed males have >200 copies and show methylation of the associated CpG island. Through the use of conserved sequences adjacent to the FRAXE GCC repeat, we have isolated a 1495 bp cDNA which begins 331 bp distal to the FRAXE site and extends to a region >170 kb distal in Xq28. The cDNA sequence possesses both a putative start of translation and a poly-A tail. The predicted protein has amino acid motifs which share significant homologies with the human AF-4 gene which encodes a putative transcription factor. On northern analysis, the cDNA detects a 9.5 kb transcript in human brain, placenta and lung. This transcript is present in multiple human brain tissues, but is more abundant in the hippocampus and the amygdala, thus providing possible functional insights. RT-PCR of normal adult brain RNA provides evidence for the existence of the 1495 bp transcript represented by the isolated cDNA. © 1996 Oxford University Press Chakrabarti Lisa Genetics Laboratory, Department of Biochemistry, University of Oxford, South Parks Road, Headington, Oxford, OX1 3QU, UK aut Knight Samantha J. L. Genetics Laboratory, Department of Biochemistry, University of Oxford, South Parks Road, Headington, Oxford, OX1 3QU, UK aut Flannery Angela V. Genetics Laboratory, Department of Biochemistry, University of Oxford, South Parks Road, Headington, Oxford, OX1 3QU, UK aut Davies Kay E. Genetics Laboratory, Department of Biochemistry, University of Oxford, South Parks Road, Headington, Oxford, OX1 3QU, UK aut Human Molecular Genetics Oxford University Press 5/2(1996-02), 275-282 0964-6906 5:2<275 1996 5 hmg https://doi.org/10.1093/hmg/5.2.275 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.2.275 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Chakrabarti Lisa Genetics Laboratory, Department of Biochemistry, University of Oxford, South Parks Road, Headington, Oxford, OX1 3QU, UK aut NATIONALLICENCE 700 1- Knight Samantha J. L. Genetics Laboratory, Department of Biochemistry, University of Oxford, South Parks Road, Headington, Oxford, OX1 3QU, UK aut NATIONALLICENCE 700 1- Flannery Angela V. Genetics Laboratory, Department of Biochemistry, University of Oxford, South Parks Road, Headington, Oxford, OX1 3QU, UK aut NATIONALLICENCE 700 1- Davies Kay E. Genetics Laboratory, Department of Biochemistry, University of Oxford, South Parks Road, Headington, Oxford, OX1 3QU, UK aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/2(1996-02), 275-282 0964-6906 5:2<275 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford