title: Juxta-centromeric region of human chromosome 21 is enriched for pseudogenes and gene fragments.
abstract: A physical map including four pseudogenes and 10 gene fragments and spanning 500 kb in the juxta-centromeric region of the long arm of human chromosome 21 is presented. cDNA fragments isolated from a selected cDNA library were characterized and mapped to the 831B6 YAC and to two BAC contigs that cover 250 kb of the region. An 85 kb genomic sequence located in the proximal region of the map was analyzed for putative exons. Four pseudogenes were found, including psiIGSF3, psiEIF3, psiGCT-rel whose functional copies map to chromosome 1p13, chromosome 2 and chromosome 22q11, respectively. The TTLL1 pseudogene corresponds to a new gene whose functional copy maps to chromosome 22q13. Ten gene fragments represent novel sequences that have related sequences on different human chromosomes and show 97-100% nucleotide identity to chromosome 21. These may correspond to pseudogenes on chromosome 21 and to functional genes in other chromosomes. The 85 kb genomic sequence was analyzed also for GC content, CpG islands, and repetitive sequence distribution. A GC-poor L isochore spanning 40 kb from satellite 1 was observed in the most centromeric region, next to a GC-rich H isochore that is a candidate region for the presence of functional genes. The pericentric duplication of a 7.8 kb region that is derived from the 22q13 chromosome band is described. We showed that the juxta-centromeric region of human chromosome 21 is enriched for retrotransposed pseudogenes and gene fragments transferred by interchromosome duplications, but we do not rule out the possibility that the region harbors functional genes also.
authors.affiliation: Séquences Répétées et Centromères Humains, CNRS UPR 1142, Institut de Biologie, Montpellier, France.
authors.forename: M
authors.initials: M
authors.lastname: Ruault
authors.forename: V
authors.initials: V
authors.lastname: Trichet
authors.forename: S
authors.initials: S
authors.lastname: Gimenez
authors.forename: S
authors.initials: S
authors.lastname: Boyle
authors.forename: K
authors.initials: K
authors.lastname: Gardiner
authors.forename: M
authors.initials: M
authors.lastname: Rolland
authors.forename: G
authors.initials: G
authors.lastname: Roizès
authors.forename: A
authors.initials: A
authors.lastname: De Sario
mesh_terms: D000818:Animals; D001482:Base Composition; D015139:Blotting, Southern; D018938:Caco-2 Cells; D002460:Cell Line; D002503:Centromere; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002876:Chromosomes, Bacterial / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D020451:Contig Mapping; D018899:CpG Islands; D003596:Cytosine; D004247:DNA / Q000737:chemistry / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D005796:Genes; D006147:Guanine; D006367:HeLa Cells; D006801:Humans; D006822:Hybrid Cells; D017404:In Situ Hybridization, Fluorescence; D051379:Mice; D016133:Polymerase Chain Reaction; D011544:Pseudogenes; D012091:Repetitive Sequences, Nucleic Acid; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D014407:Tumor Cells, Cultured
chemical_list: D018076:DNA, Complementary; D006147:Guanine; D003596:Cytosine; D004247:DNA