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Pregled bibliografske jedinice broj: 291717

Molecular basis of nanomelia, a heritable chondrodystrophy of chicken

Primorac, Dragan; Stover, M. L.; Clark, S. H.; Rowe, D. W.
Molecular basis of nanomelia, a heritable chondrodystrophy of chicken // Matrix Biology, 14 (1994), 4; 297-305 doi:10.1016/0945-053X(94)90195-3 (međunarodna recenzija, članak, znanstveni)

Molecular basis of nanomelia, a heritable chondrodystrophy of chicken

Primorac, Dragan ; Stover, M. L. ; Clark, S. H. ; Rowe, D. W.

Matrix Biology (0945-053X) 14 (1994), 4; 297-305

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Aggrecan ; cartilage ; chondrodystrophy ; nanomelia

Nanomelia is a recessively inherited connective tissue disorder of chicken affecting cartilage development. Other investigators have demonstrated that it involves low aggrecan production and diminished aggrecan mRNA levels. Based on genetic linkage studies showing a high likelihood that the mutation responsible for the nanomelic phenotype lay within the aggrecan gene, a series of experiments was performed to define the molecular basis of the trait. Aggrecan mRNA was present in the nucleus of the nanomelic chondrocyte but greatly reduced in the cytoplasmic compartment, a finding suggestive of a premature stop codon within the aggrecan transcript. Since no defect in mRNA splicing could be demonstrated by ribonucleasease protection studies, direct DNA sequencing was initiated by polymerase chain reaction of the mRNA and of genomic DNA. A stop codon was demonstrated at codon 1513, which is located in the eighth repeat of the chondroitin sulfate 2 domain of the large tenth exon. The mutation creates a unique BasBI restriction site which readily distinguishes the mutant and wild-type alleles.

Izvorni jezik


Autor s matičnim brojem:
Dragan Primorac, (212641)

Časopis indeksira:

  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus