Characterization of SCML1, a new gene in Xp22, with homology to developmental polycomb genes.
作者： Esther van de Vosse , Susannah M. Walpole , Alexia Nicolaou , Paola van der Bent , Anthony Cahn
关键词:
摘要: Abstract Using exon trapping, we have identified a new human gene in Xp22 encoding 3-kb mRNA. Expression of this RNA is detectable range tissues but most pronounced skeletal muscle and heart. The gene, designated “sex comb on midleg-like-1” ( SCML1 ), maps 14 kb centromeric marker DXS418, between DXS418 DXS7994, transcribed from telomere to centromere. spans 18 genomic DNA, consists six exons, has 624-bp open reading frame. predicted 27-kDa protein contains two domains that each high homology Drosophila transcriptional repressors the polycomb group (PcG) genes their homologues mouse human. PcG are known be involved regulation homeotic genes, mammalian repress expression Hox genes. appears member may play an important role control embryonal development.
elsevier.com
core.ac.uk 
sci-hub.se 参考文章(34)
M. Boehnke, M. S. Roth, P. A. Sieving, D. Ginsburg, E. L. Bingham, M. R. Young, Chen-Yu Kuo, Linkage relationship of X-linked juvenile retinoschisis with Xp22.1-p22.3 probes. American Journal of Human Genetics. ,vol. 47, pp. 616- 621 ,(1990)
E. van de Vosse, Brunella Franco, P. van der Bent, Eugenio Montini, Ulrike Orth, Andre Hanauer, N. Tijmes, G.-J. B. van Ommen, Andrea Ballabio, J. T. den Dunnen, Arthur A. B. Bergen, Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis Human Genetics. ,vol. 101, pp. 235- 237 ,(1997) , 10.1007/S004390050622
Esther Van de Vosse, Paola Van der Bent, Joris J. Heus, Gert- Jan B. Van Ommen, Johan T. Den Dunnen, High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes Mammalian Genome. ,vol. 8, pp. 497- 501 ,(1997) , 10.1007/S003359900483
Masato Orita, Youichi Suzuki, Takao Sekiya, Kenshi Hayashi, Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction Genomics. ,vol. 5, pp. 874- 879 ,(1989) , 10.1016/0888-7543(89)90129-8
N D George, S J Payne, R M Bill, D E Barton, A T Moore, J R Yates, Improved genetic mapping of X linked retinoschisis. Journal of Medical Genetics. ,vol. 33, pp. 919- 922 ,(1996) , 10.1136/JMG.33.11.919
Mark J. Alkema, Nathalie M. T. van der Lugt, René C. Bobeldijk, Anton Berns, Maarten van Lohuizen, Transformation of axial skeleton due to overexpression of bmi -1 in transgenic mice Nature. ,vol. 374, pp. 724- 727 ,(1995) , 10.1038/374724A0
Jeffrey Simon, Locking in stable states of gene expression: transcriptional control during Drosophila development Current Opinion in Cell Biology. ,vol. 7, pp. 376- 385 ,(1995) , 10.1016/0955-0674(95)80093-X
Deanna M. Church, Christy J. Stotler, Joni L. Rutter, Jill R. Murrell, James A. Trofatter, Alan J. Buckler, Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nature Genetics. ,vol. 6, pp. 98- 105 ,(1994) , 10.1038/NG0194-98
A. J. Buckler, D. D. Chang, S. L. Graw, J. D. Brook, D. A. Haber, P. A. Sharp, D. E. Housman, Exon amplification: a strategy to isolate mammalian genes based on RNA splicing. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 88, pp. 4005- 4009 ,(1991) , 10.1073/PNAS.88.9.4005
Marilyn Kozak, An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs Nucleic Acids Research. ,vol. 15, pp. 8125- 8148 ,(1987) , 10.1093/NAR/15.20.8125