ASSIGNMENT OF AN AUTOSOMAL SEX REVERSAL LOCUS (SRA1) AND CAMPOMELIC DYSPLASIA (CMPD1) TO 17Q24.3-Q25.1

We have mapped the autosomal sex reversal locus, SRA1, associated with campomelic dysplasia (CMPD1) to 17q24.3-q25.1 by three independent ap parently balanced de novo reciprocal translocations. Chromosome painti ng indicates that the translocated segment of 17q involves about 15% o f chromosome 17 in all three translocations, corresponding to a breakp oint at the interphase between 17q24-q25. All three 17q breakpoints we re 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 exclude d as being involved in CMPD1/SRA1. The mouse mutant tail-short (Ts) wh ich maps to the homologous syntenic region on mouse chromosome 11, dis plays some of the features of CMPD1.