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Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene
Author(s) -
Ikegawa Shiro,
Masuno Mitsuo,
Kumano Yoshiharu,
Okawa Akihiko,
Isomura Minoru,
Koyama Kumiko,
Okui Keiko,
Makita Yoshio,
Sasaki Michiko,
Kohdera Urara,
Okuda Masumi,
Koyama Hirofumi,
Ohashi Hirofumi,
Tajiri Hitoshi,
Imaizumi Kiyoshi,
Nakamura Yusuke
Publication year - 1999
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.1999.550612.x
Subject(s) - chromosomal translocation , genetics , breakpoint , biology , gene , candidate gene , positional cloning , chromosome , locus (genetics)
Shwachman syndrome is an autosomal‐recessive disorder characterized by exocrine pancreatic insufficiency, bone‐marrow dysfunction, and metaphyseal chondrodysplasia. A de novo balanced translocation was recently documented in a patient with this disease. Toward isolating the gene(s) responsible for Shwachman syndrome, we cloned and sequenced the translocation breakpoints in the DNA of this patient. The nucleotide sequences around the breakpoints contained neither repetitive elements nor motifs reported to be implicated in recombination events, although we did detect gains or losses of oligonucleotides at the translocation junctions. By large‐scale genomic sequencing and in silico gene trapping, we identified two novel transcripts in the vicinity of the breakpoints that might represent candidate genes for Shwachman syndrome, one on chromosome 6 and the other on chromosome 12. The gene on chromosome 12 was actually disrupted by the translocation.