High conservation of sequences involved in cystic fibrosis mutations in five mammalian species

P. Gasparini, V. Nunes, M. Dognini, Xavier P. Estivill

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Several mutations have been identified in the first nucleocide binding fold (NBF) of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene. We have analyzed the DNA sequences of exons 10 and 11 in five different mammalian species, marmoset, mouse, cow, pig, and sheep; the amino acid conservation studied for nine disease mutations; and two "benign" mutations. For exon 10,87% homology at the DNA level and 93.5% at the amino acid level were found for these species. For exon 11, the lowest homology (70%), as found in mouse and the highest in marmoset (93%), whereas the amino acid sequence conservation ranged from 82.5 to 100%. All codons involved in CF mutations are highly conserved throughout evolution.

Original languageEnglish
Pages (from-to)1070-1072
Number of pages3
JournalGenomics
Volume10
Issue number4
DOIs
Publication statusPublished - 1991
Externally publishedYes

Fingerprint

Cystic Fibrosis
Exons
Callithrix
Mutation
Amino Acids
Cystic Fibrosis Transmembrane Conductance Regulator
Regulator Genes
Codon
Amino Acid Sequence
Sheep
Swine
DNA

ASJC Scopus subject areas

  • Genetics

Cite this

High conservation of sequences involved in cystic fibrosis mutations in five mammalian species. / Gasparini, P.; Nunes, V.; Dognini, M.; Estivill, Xavier P.

In: Genomics, Vol. 10, No. 4, 1991, p. 1070-1072.

Research output: Contribution to journalArticle

Gasparini, P. ; Nunes, V. ; Dognini, M. ; Estivill, Xavier P. / High conservation of sequences involved in cystic fibrosis mutations in five mammalian species. In: Genomics. 1991 ; Vol. 10, No. 4. pp. 1070-1072.
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