caa a22 4500 397573367 CHVBK 20180308164847.0 cr unu---uuuuu 161202e199601 xx s 000 0 eng 10.1093/hmg/5.1.69 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.1.69 Isolation of a Testis-Specific cDNA on Chromosome 17q from a Region Adjacent to the Breakpoint of t(, ) Observed in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal [Elektronische Daten] [Shinsuke Ninomiya, Minoru Isomura, Kouji Narahara, Yoshiki Seino, Yusuke 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, ∼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. © 1996 Oxford University Press Ninomiya Shinsuke Department of Biochemistry, Cancer Institute, 1-37-1 Kami-ikebukuro, Toshima, Tokyo 170, Japan aut Isomura Minoru Department of Biochemistry, Cancer Institute, 1-37-1 Kami-ikebukuro, Toshima, Tokyo 170, Japan aut Narahara Kouji Department of Pediatrics, Okayama University Medical School, 2-5-1, Shikata-cho, Okayama 700, Japan aut Seino Yoshiki Department of Pediatrics, Okayama University Medical School, 2-5-1, Shikata-cho, Okayama 700, Japan aut Nakamura Yusuke Department of Biochemistry, Cancer Institute, 1-37-1 Kami-ikebukuro, Toshima, Tokyo 170, Japan aut Human Molecular Genetics Oxford University Press 5/1(1996-01), 69-72 0964-6906 5:1<69 1996 5 hmg https://doi.org/10.1093/hmg/5.1.69 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.1.69 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Ninomiya Shinsuke Department of Biochemistry, Cancer Institute, 1-37-1 Kami-ikebukuro, Toshima, Tokyo 170, Japan aut NATIONALLICENCE 700 1- Isomura Minoru Department of Biochemistry, Cancer Institute, 1-37-1 Kami-ikebukuro, Toshima, Tokyo 170, Japan aut NATIONALLICENCE 700 1- Narahara Kouji Department of Pediatrics, Okayama University Medical School, 2-5-1, Shikata-cho, Okayama 700, Japan aut NATIONALLICENCE 700 1- Seino Yoshiki Department of Pediatrics, Okayama University Medical School, 2-5-1, Shikata-cho, Okayama 700, Japan aut NATIONALLICENCE 700 1- Nakamura Yusuke Department of Biochemistry, Cancer Institute, 1-37-1 Kami-ikebukuro, Toshima, Tokyo 170, Japan aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/1(1996-01), 69-72 0964-6906 5:1<69 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford