Human Molecular Genetics, Vol 5, 69-72, Copyright © 1996 by Oxford University Press
S Ninomiya, M Isomura, K Narahara, Y Seino and Y Nakamura
Campomelic dysplasia (CMPD), a rare congenital disorder, is characterized
by a variety of skeletal anomalies, low-set ears and, in nearly half of
genotypical-male patients, sex reversal. Observations of chromosomal
translocations involving chromosome 17q24-q25 in several CMPD patients have
implied that disruption of one or more genes in the breakpoint region is
responsible for this disease. Using fluorescence in situ hybridization, we
mapped the chromosome-17 breakpoint in a patient with acampomelic CMPD and
sex reversal, who carries a de novo constitutional t(12;17) translocation,
between two known cosmid markers in the 17q24-q25 region. Through
positional cloning, we isolated a 3.5 kb cDNA that is located at a close
but distinct position from the SOX9 gene, from the region surrounding this
breakpoint. Its mRNA, approximately 3.7 kb long, was expressed specifically
in testis among 16 adult tissues examined by Northern blot analysis. As we
were unable to find any long open reading frame in the 3.5 kb cDNA sequence
or to detect any peptide following an in vitro translation experiment using
RNA transcribed from this cDNA, we speculate that this gene may play a
critical role in differentiation or sex determination as a functional RNA.
ARTICLES
Isolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal
Department of Biochemistry, Cancer Institute, Tokyo, Japan.
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