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Variable levels of normal RNA in different fetal organs carrying a cystic fibrosis transmembrane conductance regulator splicing mutation.

Publication ,  Journal Article
Chiba-Falek, O; Parad, RB; Kerem, E; Kerem, B
Published in: Am J Respir Crit Care Med
June 1999

Disease severity varies among cystic fibrosis (CF) patients carrying the same cystic fibrosis transmembrane conductance regulator (CFTR) genotype and among organs of the same individual. It has been shown that the class V splicing mutation 3849 + 10 kb C--> T produces both normal and aberrantly spliced CFTR transcripts. We analyzed the levels of normal CFTR messenger RNA (mRNA) in different organs of an aborted fetus carrying the 3849 + 10 kb C--> T mutation, and found that they correlated with the histopathologic changes observed in these organs. We performed semiquantitative nondifferential reverse transcription-polymerase chain reaction on several organs from a 22-wk aborted CF fetus carrying the 3849 + 10 kb C--> T mutation. A very low level (1%) of normal CFTR mRNA was detected in the severely affected ileum of this fetus. Higher levels were found in the histopathologically unaffected trachea (17%), colon (19%), and lung (26%). Thus, as early as in utero, the regulation of alternative splice-site selection is an important mechanism underlying variable CF severity. Understanding of the mechanisms regulating alternative splicing in different tissues will contribute to potential therapy for patients carrying splicing mutations in CF and other human disease genes.

Duke Scholars

Published In

Am J Respir Crit Care Med

DOI

ISSN

1073-449X

Publication Date

June 1999

Volume

159

Issue

6

Start / End Page

1998 / 2002

Location

United States

Related Subject Headings

  • Trachea
  • Reverse Transcriptase Polymerase Chain Reaction
  • Respiratory System
  • Reference Values
  • RNA, Messenger
  • Mutation
  • Lung
  • Ileum
  • Humans
  • Fetus
 

Citation

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Chicago
ICMJE
MLA
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Chiba-Falek, O., Parad, R. B., Kerem, E., & Kerem, B. (1999). Variable levels of normal RNA in different fetal organs carrying a cystic fibrosis transmembrane conductance regulator splicing mutation. Am J Respir Crit Care Med, 159(6), 1998–2002. https://doi.org/10.1164/ajrccm.159.6.9808012
Chiba-Falek, O., R. B. Parad, E. Kerem, and B. Kerem. “Variable levels of normal RNA in different fetal organs carrying a cystic fibrosis transmembrane conductance regulator splicing mutation.Am J Respir Crit Care Med 159, no. 6 (June 1999): 1998–2002. https://doi.org/10.1164/ajrccm.159.6.9808012.
Chiba-Falek O, Parad RB, Kerem E, Kerem B. Variable levels of normal RNA in different fetal organs carrying a cystic fibrosis transmembrane conductance regulator splicing mutation. Am J Respir Crit Care Med. 1999 Jun;159(6):1998–2002.
Chiba-Falek, O., et al. “Variable levels of normal RNA in different fetal organs carrying a cystic fibrosis transmembrane conductance regulator splicing mutation.Am J Respir Crit Care Med, vol. 159, no. 6, June 1999, pp. 1998–2002. Pubmed, doi:10.1164/ajrccm.159.6.9808012.
Chiba-Falek O, Parad RB, Kerem E, Kerem B. Variable levels of normal RNA in different fetal organs carrying a cystic fibrosis transmembrane conductance regulator splicing mutation. Am J Respir Crit Care Med. 1999 Jun;159(6):1998–2002.

Published In

Am J Respir Crit Care Med

DOI

ISSN

1073-449X

Publication Date

June 1999

Volume

159

Issue

6

Start / End Page

1998 / 2002

Location

United States

Related Subject Headings

  • Trachea
  • Reverse Transcriptase Polymerase Chain Reaction
  • Respiratory System
  • Reference Values
  • RNA, Messenger
  • Mutation
  • Lung
  • Ileum
  • Humans
  • Fetus