Tommerup N, Schempp W, Meinecke P, Pedersen S, Bolund L, Brandt C, Goodpasture C, Guldberg P, Held K R, Reinwein H
Danish Center for Human Genome Research, John F. Kennedy Institute, Glostrup.
Nat Genet. 1993 Jun;4(2):170-4. doi: 10.1038/ng0693-170.
We have mapped the autosomal sex reversal locus, SRA1, associated with campomelic dysplasia (CMPD1) to 17q24.3-q25.1 by three independent apparently balanced de novo reciprocal translocations. Chromosome painting indicates that the translocated segment of 17q involves about 15% of chromosome 17 in all three translocations, corresponding to a breakpoint at the interphase between 17q24-q25. All three 17q breakpoints were localized distal to the growth hormone locus (GH), and proximal to thymidine kinase (TK1). Due to the distal location of the breakpoints, previously mentioned candidate genes, HOX2 and COL1A1, can be excluded as being involved in CMPD1/SRA1. The mouse mutant tail-short (Ts) which maps to the homologous syntenic region on mouse chromosome 11, displays some of the features of CMPD1.
我们通过三个独立的、明显平衡的新生相互易位，将与弯肢侏儒症（CMPD1）相关的常染色体性反转基因座SRA1定位到了17q24.3 - q25.1。染色体描绘显示，在所有三个易位中，17q的易位片段约占17号染色体的15%，对应于17q24 - q25间期的一个断点。所有三个17q断点均定位在生长激素基因座（GH）的远端和胸苷激酶（TK1）的近端。由于断点位于远端，之前提到的候选基因HOX2和COL1A1可被排除与CMPD1/SRA1相关。定位到小鼠11号染色体同源同线区域的小鼠突变体短尾（Ts）表现出了CMPD1的一些特征。
