Organization of a human UDP-GalNAc:polypeptide, N-acetylgalactosaminyltransferase gene and a related processed pseudogene
| Autor: | Janet A. Meurer, Fred L. Homa, Roger F. Drong, Jerry L. Slightom, Ake P. Elhammer |
|---|---|
| Rok vydání: | 1996 |
| Předmět: |
DNA
Complementary Pseudogene Molecular Sequence Data Biology Biochemistry Sequence Homology Nucleic Acid Coding region Humans Genomic library Cloning Molecular Gene Genomic organization Genetics Base Sequence Nucleic acid sequence Chromosome Mapping Exons Molecular biology Introns carbohydrates (lipids) genomic DNA Blotting Southern N-Acetylgalactosaminyltransferases lipids (amino acids peptides and proteins) Human genome Chromosomes Human Pair 3 Pseudogenes |
| Zdroj: | Glycobiology. 6(2) |
| ISSN: | 0959-6658 |
| Popis: | We have previously characterized a cDNA that encodes a full length human UDP-GalNAc:polypeptide, N-acetylgalactosaminyltransferase (GalNAc-transferase) (J.A. Meurer et al., J. Biochem., 118, 568-574, 1995). The present report describes the characterization of the corresponding human GalNAc-transferase gene and a related pseudogene. Two human genomic libraries, lambda and P1, were screened with probes derived from the human GalNAc-transferase nucleotide sequence, resulting in the isolation of four genomic clones. Southern blotting, PCR analysis, and sequencing revealed that three clones, lambda.HG-5, P1.GALN-A, and P1.GALN-B, contained overlapping genomic sequences that encompass over 55 kilobase pairs (kb) of genomic DNA and comprise a portion of the human GalNAc-transferase 5'-and 3'-untranslated regions and the entire coding region. The human GalNAc-transferase gene structure consists of at least 11 exons ranging in size from 99 to > 620 nucleotides which are separated by 10 introns ranging in size from 0.7 to approximately 12.5 kb. The fourth genomic clone, P1-GALN-psi, contained a approximately 2.4 kb sequence region which shares an overall 78.6% nucleotide identity with coding region exons 1 and 3 through 11 of the human GalNAc-transferase gene. However, a lack of intron sequences, as well as the presence of multiple nucleotide mutations, insertions, and deletions that disrupt the potential GalNAc-transferase reading frame, suggest that P1.GALN-psi contains a processed pseudogene. Screening of a human/rodent somatic cell hybrid panel with a P1.GALN-psi probe localized the GalNAc-transferase pseudogene to chromosome 3. Hence, the human genome contains at least two related GalNAc-transferase genes that are located on separate chromosomes. |
| Databáze: | OpenAIRE |
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