http://www.cnr.it/ontology/cnr/individuo/prodotto/ID5063
A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient (Articolo in rivista)
- Type
- Label
- A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient (Articolo in rivista) (literal)
- Anno
- 2002-01-01T00:00:00+01:00 (literal)
- Alternative label
Pizzuti A., Calabrese G., Bozzali M., Telvi L., Morizio E., Guida V., Gatta V., Stuppia L., Ion A., Palka G., Dallapiccola B. (2002)
A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient
in Investigative ophthalmology & visual science
(literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
- Pizzuti A., Calabrese G., Bozzali M., Telvi L., Morizio E., Guida V., Gatta V., Stuppia L., Ion A., Palka G., Dallapiccola B. (literal)
- Pagina inizio
- Pagina fine
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
- Rivista
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#note
- Note
- ISI Web of Science (WOS) (literal)
- Titolo
- A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient (literal)
- Abstract
- PURPOSE: To identify the gene disrupted by a de novo reciprocal balanced
translocation t(6;8)(q26;q13) in a patient with Duane retraction syndrome
(DURS). The break point in chromosome arm 8q is positioned within the
DURS1 critical region. METHODS: Fluorescence in situ hybridization (FISH)
analysis using cosmid and BAC clones covering the DURS1 locus was
performed to define the break point position and its relationship with
expressed sequence tags (ESTs) in the region. Once the interrupted gene
was identified, the full-length cDNA was sequenced and the genomic
organization defined. Eighteen patients with sporadic DURS without
cytogenetic abnormalities involving the DURS1 region were screened for
point mutations in the candidate DURS1 gene. RESULTS: A carboxypeptidase
gene (CPAH) was directly interrupted between the first and second exons in
a patient with DURS who carried a de novo reciprocal balanced
translocation t(6;8)(q26;q13) involving the DURS1 region on chromosome arm
8q13. The gene was transcribed in at least two alternative mRNA forms,
with different start and stop codons. CONCLUSIONS: The CPAH gene was
interrupted in a patient with DURS carrying a translocation break point in
the DURS1 region on chromosome 8q13. CPAH is therefore a likely candidate
for this abnormality, even if the possibility that other genes are
involved, either by direct effects on transcription units present in the
first CPAH intron or by position effects, cannot be ruled out. Functional
studies of the influence of this gene on the morphogenesis of eye muscles
and their innervation may clarify this question.
(literal)
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