From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map.

Détails

ID Serval
serval:BIB_C4C0B69912C5
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map.
Périodique
Genomics
Auteur⸱e⸱s
Reymond A., Friedli M., Henrichsen C.N., Chapot F., Deutsch S., Ucla C., Rossier C., Lyle R., Guipponi M., Antonarakis S.E.
ISSN
0888-7543 (Print)
ISSN-L
0888-7543
Statut éditorial
Publié
Date de publication
2001
Volume
78
Numéro
1-2
Pages
46-54
Langue
anglais
Résumé
A supernumerary copy of human chromosome 21 (HC21) causes Down syndrome. To understand the molecular pathogenesis of Down syndrome, it is necessary to identify all HC21 genes. The first annotation of the sequence of 21q confirmed 127 genes, and predicted an additional 98 previously unknown "anonymous" genes (predictions (PREDs) and open reading frames (C21orfs)), which were foreseen by exon prediction programs and/or spliced expressed sequence tags. These putative gene models still need to be confirmed as bona fide transcripts. Here we report the characterization and expression pattern of the putative transcripts C21orf7, C21orf11, C21orf15, C21orf18, C21orf19, C21orf22, C21orf42, C21orf50, C21orf51, C21orf57, and C21orf58, the GC-rich sequence DNA-binding factor candidate GCFC (also known as C21orf66), PRED12, PRED31, PRED34, PRED44, PRED54, and PRED56. Our analysis showed that most of the C21orfs originally defined by matching spliced expressed sequence tags were correctly predicted, whereas many of the PREDs, defined solely by computer prediction, do not correspond to genuine genes. Four of the six PREDs were incorrectly predicted: PRED44 and C21orf11 are portions of the same transcript, PRED31 is a pseudogene, and PRED54 and PRED56 were wrongly predicted. In contrast, PRED12 (now called C21orf68) and PRED34 (C21orf63) are now confirmed transcripts. We identified three new genes, C21orf67, C21orf69, and C21orf70, not previously predicted by any programs. This revision of the HC21 transcriptome has consequences for the entire genome regarding the quality of previous annotations and the total number of transcripts. It also provides new candidates for genes involved in Down syndrome and other genetic disorders that map to HC21.
Mots-clé
Animals, COS Cells, Chromosomes, Human, Pair 21/genetics, Cloning, Molecular, DNA, Complementary/chemistry, DNA, Complementary/genetics, Down Syndrome/genetics, Expressed Sequence Tags, Genes/genetics, Green Fluorescent Proteins, Humans, Internet, Luminescent Proteins/genetics, Luminescent Proteins/metabolism, Mice, Microscopy, Fluorescence, Molecular Sequence Data, Open Reading Frames/genetics, Recombinant Fusion Proteins/genetics, Recombinant Fusion Proteins/metabolism, Sequence Analysis, DNA, Transcription, Genetic, Tumor Cells, Cultured
Pubmed
Web of science
Création de la notice
24/01/2008 15:52
Dernière modification de la notice
20/08/2019 15:40
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