5' splicing and allelic variants of the human pulmonary surfactant protein A genes.

A. M. Karinch, Joanna Floros

Research output: Contribution to journalArticle

76 Citations (Scopus)

Abstract

Human pulmonary surfactant protein A (SP-A) is encoded by two genes, SP-A1 and SP-A2. Reports from our laboratory and other investigations have shown heterogeneity in both genes within three regions (the 5' untranslated [5' UT], the coding, and the 3' untranslated [3' UT] regions). To more fully examine the variability in these regions and characterize the transcription start site in each gene, we used primer extension and 5' RACE to clone and then sequence cDNA clones from two individuals. These cDNAs extended from the transcription start site to approximately 40% of the 3' UT segment. The in vitro translatability of selected cDNAs was also tested. After analysis of our data, we found that: (1) the 5' UT of SP-A genes contains four (A, B, C, D for SP-A1) or three (A, B, D for SP-A2) untranslated exons, three of which (A, B, D) vary in length, and one of which (C) is new; (2) these exons are alternatively spliced and the major splice patterns as well as their relative frequency vary between the two genes (the major pattern for SP-A1 is AD'[81%] and the major patterns for SP-A2 are ABD [44%] and ABD'[49%]); (3) the SP-A1 gene uses three transcription start sites with equal frequency, whereas the SP-A2 gene uses only one; (4) splicing variability occurs among alleles and among individuals; (5) three previously undescribed alleles exist for the SP-A1 gene (6A2, 6A3, 6A4) and two for the SP-A2 gene (1A1, 1A2); and (6) a core group of 10 invariant nucleotides and four invariant amino acids can be used to discriminate between SP-A1 and SP-A2 alleles.

Original languageEnglish (US)
Pages (from-to)77-88
Number of pages12
JournalAmerican Journal of Respiratory Cell and Molecular Biology
Volume12
Issue number1
DOIs
StatePublished - Jan 1 1995

Fingerprint

Pulmonary Surfactant-Associated Proteins
vif Genes
Pulmonary Surfactant-Associated Protein A
Genes
varespladib methyl
Transcription Initiation Site
Complementary DNA
Alleles
Exons
Clone Cells
5' Untranslated Regions
3' Untranslated Regions
Surface-Active Agents
Nucleotides
Amino Acids

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Pulmonary and Respiratory Medicine
  • Clinical Biochemistry
  • Cell Biology

Cite this

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title = "5' splicing and allelic variants of the human pulmonary surfactant protein A genes.",
abstract = "Human pulmonary surfactant protein A (SP-A) is encoded by two genes, SP-A1 and SP-A2. Reports from our laboratory and other investigations have shown heterogeneity in both genes within three regions (the 5' untranslated [5' UT], the coding, and the 3' untranslated [3' UT] regions). To more fully examine the variability in these regions and characterize the transcription start site in each gene, we used primer extension and 5' RACE to clone and then sequence cDNA clones from two individuals. These cDNAs extended from the transcription start site to approximately 40{\%} of the 3' UT segment. The in vitro translatability of selected cDNAs was also tested. After analysis of our data, we found that: (1) the 5' UT of SP-A genes contains four (A, B, C, D for SP-A1) or three (A, B, D for SP-A2) untranslated exons, three of which (A, B, D) vary in length, and one of which (C) is new; (2) these exons are alternatively spliced and the major splice patterns as well as their relative frequency vary between the two genes (the major pattern for SP-A1 is AD'[81{\%}] and the major patterns for SP-A2 are ABD [44{\%}] and ABD'[49{\%}]); (3) the SP-A1 gene uses three transcription start sites with equal frequency, whereas the SP-A2 gene uses only one; (4) splicing variability occurs among alleles and among individuals; (5) three previously undescribed alleles exist for the SP-A1 gene (6A2, 6A3, 6A4) and two for the SP-A2 gene (1A1, 1A2); and (6) a core group of 10 invariant nucleotides and four invariant amino acids can be used to discriminate between SP-A1 and SP-A2 alleles.",
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5' splicing and allelic variants of the human pulmonary surfactant protein A genes. / Karinch, A. M.; Floros, Joanna.

In: American Journal of Respiratory Cell and Molecular Biology, Vol. 12, No. 1, 01.01.1995, p. 77-88.

Research output: Contribution to journalArticle

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