Identification of a novel retina-specific gene located in a subtelomeric region with polymorphic distribution among multiple human chromosomes
作者： Nancy Mah , Heidi Stoehr , Heidi L Schulz , Karen White , Bernhard HF Weber
DOI: 10.1016/S0167-4781(01)00328-1
关键词:
摘要: The human retina is comprised of a large number cell types with highly specialized functions that depend on the action countless genes, many which are exclusively expressed in retina. We have isolated novel retinal gene, termed F379. transcript was initially identified as cluster ESTs derived predominantly from cDNA libraries and its transcription confirmed by Northern blot RT-PCR. Screening yielded four clones were assembled into 1188 bp consensus sequence. putative open reading frame includes an unusual configuration Alu MIR repeats encodes 85 aa peptide no significant homology to any known protein sequence outside elements. Comparison genomic determined F379 consists three exons maps multiple locations throughout genome, finding PCR screening somatic hybrid mapping panel. appears be contained within region subtelomeric DNA duplicated polymorphic distribution chromosomes. interchromosomal variation sequences transcripts suggests gene transcribed at least different
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sci-hub.se 参考文章(30)
Otto G. Berg, Peter H. von Hippel, Selection of DNA binding sites by regulatory proteins. II. The binding specificity of cyclic AMP receptor protein to recognition sites. Journal of Molecular Biology. ,vol. 200, pp. 709- 723 ,(1988) , 10.1016/0022-2836(88)90482-2
ABDENAÏM KERMOUNI, EMIEL VANROOST, KAREN C. ARDEN, JORIS R. VERMEESCH, SUZANNE WEISS, DANIÈLE GODELAINE, JONATHAN FLINT, CHRISTOPHE LURQUIN, JEAN-PIERRE SZIKORA, DOUGLAS R. HIGGS, PETER MARYNEN, JEAN-CHRISTOPHE RENAULD, The Il-9 Receptor Gene (il9r) - Genomic Structure, Chromosomal Localization in the Pseudoautosomal Region of the Long Arm of the Sex-chromosomes, and Identification of Il9r Pseudogenes At 9qter, 10pter, 16pter, and 18pter Genomics. ,vol. 29, pp. 371- 382 ,(1995) , 10.1006/GENO.1995.9992
Andrew O.M. Wilkie, Douglas R. Higgs, Katrina A. Rack, Veronica J. Buckle, Nigel K. Spurr, Nathan Fischel-Ghodsian, Isabella Ceccherini, William R.A. Brown, Peter C. Harris, Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16. Cell. ,vol. 64, pp. 595- 606 ,(1991) , 10.1016/0092-8674(91)90243-R
David C. Hughes, MIRs as agents of mammalian gene evolution. Trends in Genetics. ,vol. 16, pp. 60- 62 ,(2000) , 10.1016/S0168-9525(99)01897-1
Andrew C.C. Wong, Dana Shkolny, Angela Dorman, Diana Willingham, Bruce A. Roe, Heather E. McDermid, Two Novel Human RAB Genes with Near Identical Sequence Each Map to a Telomere-Associated Region: The Subtelomeric Region of 22q13.3 and the Ancestral Telomere Band 2q13 Genomics. ,vol. 59, pp. 326- 334 ,(1999) , 10.1006/GENO.1999.5889
H. Stöhr, N. Mah, H.L. Schulz, A. Gehrig, S. Fröhlich, B.H.F. Weber, EST mining of the UniGene dataset to identify retina-specific genes Cytogenetic and Genome Research. ,vol. 91, pp. 267- 277 ,(2000) , 10.1159/000056856
M. van Geel, J.C.T. van Deutekom, A. van Staalduinen, R.J.L.F. Lemmers, M.C. Dickson, M.H. Hofker, G.W. Padberg, J.E. Hewitt, P.J. de Jong, R.R. Frants, Identification of a novel beta-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35. Cytogenetic and Genome Research. ,vol. 88, pp. 316- 321 ,(2000) , 10.1159/000015518
Andrew P. Feinberg, Bert Vogelstein, A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity Analytical Biochemistry. ,vol. 132, pp. 6- 13 ,(1983) , 10.1016/0003-2697(83)90418-9
Arian F. A. Smit, Arthur D. Riggs, MIRs are classic, tRNA-derived SINEs that amplified before the mammalian radiation Nucleic Acids Research. ,vol. 23, pp. 98- 102 ,(1995) , 10.1093/NAR/23.1.98
ThomasV. Adamkiewicz, Cynthia McSherry, FritzH. Bach, JeffreyP. Houchins, Natural killer lectin-like receptors have divergent carboxy-termini, distinct from C-type lectins. Immunogenetics. ,vol. 39, pp. 218- 218 ,(1994) , 10.1007/BF00241264