Genetic and physical maps of the mouse rd3 locus; exclusion of the ortholog of USH2A.

作者: Janet Seager Danciger , Michael Danciger *, ‡ , Steven Nusinow , Tammy Rickabaugh

DOI: 10.1007/S003359901067

关键词: Human geneticsRetinal degenerationGenetic markerGeneticsLocus (genetics)GeneBiologyHomologous chromosomePhysical MapsContig

摘要: The rd3 retinal degeneration gene was previously mapped 10 ± 2.5 cM distal to Akp1 on mouse Chromosome (Chr) 1 (Chang et al., 1993), a region that may be homologous the locus of human USH2A gene, which carries mutations responsible for Usher IIa degeneration/hearing loss syndrome. An intercross from an Rb(11,13)4Bnr(rd3/rd3) × C57BL/6J mating set up, 428 F2 meioses were analyzed, and placed between markers D1MIT292/D1MIT209 D1MIT510, distance 1.40 0.57 cM. These flanking ortholog (Mush2a) in T31 radiation hybrid (RH) panel, with result D1MIT510 7.9 cR3000 apart (∼800 kb), Mush2a > 30 proximal pair, excluding it locus. A contig spanning consisting 2 YACs one BAC generated, absent it, confirming its exclusion Comparison adjacent marker pairs Whitehead genetic map our showed some discrepancies order distances. RH highly skewed relationships physical

参考文章(13)
Linda C McCarthy, Jonathan Terrett, Maria E Davis, Catherine J Knights, Angela L Smith, Ricky Critcher, Karin Schmitt, Jim Hudson, Nigel K Spurr, Peter N Goodfellow, None, A First-Generation Whole Genome–Radiation Hybrid Map Spanning the Mouse Genome Genome Research. ,vol. 7, pp. 1153- 1161 ,(1997) , 10.1101/GR.7.12.1153
Sandra Pieke-Dahl, Kevin K. Ohlemiller, JoAnn McGee, Edward J. Walsh, William J. Kimberling, Hearing loss in the RBF/DnJ mouse, a proposed animal model of Usher syndrome type IIa Hearing Research. ,vol. 112, pp. 1- 12 ,(1997) , 10.1016/S0378-5955(97)00087-7
Janos Sumegi, Ji-Yi Wang, Dong-Kai Zhen, James D. Eudy, Catherine B. Talmadge, Bi-Fang Li, Peter Berglund, Michael D. Weston, Su-Fang Yao, Manling Ma-Edmonds, Larry Overbeck, Philip M. Kelley, Eugene Zabarovsky, Eva Uzvolgyi, Eric J. Stanbridge, George Klein, William J. Kimberling, The construction of a yeast artificial chromosome (YAC) contig in the vicinity of the Usher syndrome type IIa (USH2A) gene in 1q41. Genomics. ,vol. 35, pp. 79- 86 ,(1996) , 10.1006/GENO.1996.0325
Kenneth F. Manly, A Macintosh program for storage and analysis of experimental genetic mapping data. Mammalian Genome. ,vol. 4, pp. 303- 313 ,(1993) , 10.1007/BF00357089
M. E. McLaughlin, T. L. Ehrhart, E. L. Berson, T. P. Dryja, Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa Proceedings of the National Academy of Sciences of the United States of America. ,vol. 92, pp. 3249- 3253 ,(1995) , 10.1073/PNAS.92.8.3249
S. J. Pittler, W. Baehr, Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 88, pp. 8322- 8326 ,(1991) , 10.1073/PNAS.88.19.8322
F. Gibson, J. Walsh, P. Mburu, A. Varela, K. A. Brown, M. Antonio, K. W. Beisel, K. P. Steel, S. D. M. Brown, A type VII myosin encoded by the mouse deafness gene shaker-1. Nature. ,vol. 374, pp. 62- 64 ,(1995) , 10.1038/374062A0
Michael F. Seldin, Mouse Chromosome 1 Mammalian Genome. ,vol. 10, pp. 940- 940 ,(1991) , 10.1007/S003359900313
Gabriel H. Travis, Miles B. Brennan, Patria E. Danielson, Christine A. Kozak, J. Gregor Sutcliffe, Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature. ,vol. 338, pp. 70- 73 ,(1989) , 10.1038/338070A0