title: Heterogeneity at the 5'-end of MEN1 transcripts.
abstract: Multiple endocrine neoplasia type 1 is an autosomal dominant familial cancer syndrome. The responsible gene, MEN1, has been isolated and inactivating mutations have been found in the majority of MEN1 families. The underlying genetic defects in the remaining families may be located in yet unidentified regions of the MEN1 gene. Here, we present novel transcripts of MEN1 which vary in the content of their 5'-untranslated region. All transcript variants display upstream exons correctly spliced to MEN1 exon 2. The most commonly seen splice isoform occurred in a region previously published as human intron 1, a region which shows a high conservation between human and rodent MEN1. This splice variant uses an analogous transcription initiation site and identical splice donor/acceptor sites as a major transcript seen in rodent Men1. The newly identified MEN1 isoforms may represent biologically important transcripts and should thus be studied for mutations in the regions enclosed therein.
authors.affiliation: Department of Molecular Medicine, CMM L8-02, Karolinska Institute, Stockholm, S-171 76, Sweden. shideh.Khodaei@cmm.ki.se
authors.forename: S
authors.initials: S
authors.lastname: Khodaei-O'Brien
authors.forename: B
authors.initials: B
authors.lastname: Zablewska
authors.forename: M
authors.initials: M
authors.lastname: Fromaget
authors.forename: L
authors.initials: L
authors.lastname: Bylund
authors.forename: G
authors.initials: G
authors.lastname: Weber
authors.forename: P
authors.initials: P
authors.lastname: Gaudray
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics*; D017398:Alternative Splicing; D015152:Blotting, Northern; D018076:DNA, Complementary / Q000032:analysis; D003851:Deoxyribonucleases / Q000378:metabolism; D005784:Gene Amplification; D015870:Gene Expression; D018740:Genetic Heterogeneity; D006801:Humans; D008969:Molecular Sequence Data; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics; D009363:Neoplasm Proteins / Q000235:genetics*; D011518:Proto-Oncogene Proteins; D012333:RNA, Messenger / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014158:Transcription, Genetic
chemical_list: D020121:5' Untranslated Regions; D018076:DNA, Complementary; C105373:MEN1 protein, human; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins; D012333:RNA, Messenger; D003851:Deoxyribonucleases