Splice variants of porcine PPHLN1 encoding periphilin-1

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The periphilin-1 protein is encoded by the PPHLN1 gene. Periphilin-1 is found in the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layer of epidermis. In the current study we report on the cloning and characterization of the porcine PPHLN1 cDNA and two splice variants hereof. RT-PCR cloning using oligonucleotide primers derived from in silico sequences resulted in three PPHLN1 transcripts: a full-length mRNA and two transcript variant resulting in shorter proteins. The longest encoded periphilin-1, consisting of 373 amino acids, displays a high homology to the human periphilin-1 protein coded by the transcript variant 2 (91%). A shorter transcript variant (PPHLN1Sp1) contains a 1065-codon ORF, which is consistent with that of the authentic PPHLN1, but lacks a region of 57 bp spanning exon 7. Hence, the encoded polypeptide periphilin-1Sp1 consists of 354 amino acids and lacks 20 amino acids (Lys177 to Gly196) in middle part of the protein. A second transcript variant PPHLN1Sp2, contains a 300-codon ORF lacking exon 4 and exon 7 compared with periphilin-1. This PPHLN1 polypeptide lacks both a part of the N-terminal region and the middle part of the periphilin-1 protein. Thus, variants Sp1 and Sp1 are the result of alternative splicing. The porcine PPHLN1 gene was mapped to chromosome 5. The porcine PPHLN1 gene was found to be differentially expressed in various porcine organs and tissues.

The sequence of the porcine PPHLN1 cDNA, encoding the periphilin-1 protein and the two splice variants periphilin-1Sp1 and periphilin-1Sp2 have been submitted to GenBank under the accession numbers, GenBank ID: KP136433, GenBank ID: KP136434and GenBank ID: KP136435, respectively.
Original languageEnglish
JournalGene Reports
Pages (from-to)176-183
Publication statusPublished - 2017

    Research areas

  • Alternative splicing , Methylation, Periphilin-1, Pig

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