Radiation hybrid mapping of 18 positional and physiological candidate genes for arthrogryposis multiplex congenita on porcine chromosome 5

被引：16
作者：
Genini, S.
Nguyen, T. T.
Malek, M.
Talbot, R.
Gebert, S.
Rohrer, G.
Nonneman, D.
Stranzinger, G.
Vogeli, P.
机构：
[1] Swiss Fed Inst Technol, Breeding Biol Grp, Inst Anim Sci, CH-8092 Zurich, Switzerland
[2] Swiss Fed Inst Technol, Inst Anim Sci, Zurich, Switzerland
[3] Roslin Inst, ARK Gen, Roslin EH25 9PS, Midlothian, Scotland
[4] US Meat Anim Res Ctr, Clay Ctr, NE 68933 USA
来源：
ANIMAL GENETICS | 2006年 / 37卷 / 03期
关键词：
arthrogryposis; gene mapping; pig chromosome 5; radiation hybrid panel;
D O I：
10.1111/j.1365-2052.2006.01447.x
中图分类号：
S8 [畜牧、 动物医学、狩猎、蚕、蜂];
学科分类号：
0905 ;
摘要：
We report the chromosomal assignment of 18 porcine genes to human homologues using the INRA-Minnesota swine radiation hybrid panel (IMpRH). These genes (CACNA1C, COL2A1, CPNE8, C3F, C12ORF4, DDX11, GDF11, HOXC8, KCNA1, MDS028, TMEM106C, NR4A1, PHB2, PRICKLE1, Q6ZUQ4, SCN8A, TUBA8 and USP18) are located on porcine chromosome 5 (SSC5) and represent positional and functional candidates for arthrogryposis multiplex congenita (AMC), which maps to SSC5. CPNE8, PRICKLE1, Q6ZUQ4 and TUBA8 were mapped to the interval for pig AMC between microsatellites SW152 and SW904. Three SNPs in TUBA8 co-segregated with the AMC phenotype in 230 pigs of our research population without recombination and could be used as a genetic marker test for AMC. In addition, we provide evidence that a small chromosomal region of HSA22q11.2 evolutionarily corresponds to SSC5q12-q22 (and contains the human homologues of porcine SW152, Q6ZUQ4, TUBA8 and USP18), while the regions flanking HSA22q11.2 on SSC5 correspond to HSA12p13 and HSA12q12. We identified seven distinct chromosomal blocks, further supporting extensive rearrangements between genes on HSA12 and HSA22 in the AMC region on SSC5.
引用
收藏
页码：239 / 244
页数：6
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