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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)


Naslov
Molecular basis of nanomelia, a heritable chondrodystrophy of chicken

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

Izvornik
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

Sažetak
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
Engleski



POVEZANOST RADA


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
  • MEDLINE


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