PMID: 9192657Jun 24, 1997Paper

Gene identification and DNA sequence analysis in the GC-poor 20 megabase region of human chromosome 21

Proceedings of the National Academy of Sciences of the United States of America
J YuF T Kao

Abstract

In contrast to the distal half of the long arm of chromosome 21, the proximal half of approximately 20 megabases of DNA, including 21q11-21 bands, is low in GC content, CpG islands, and identified genes. Despite intensive searches, very few genes and cDNAs have been found in this region. Since the 21q11-21 region is associated with certain Down syndrome pathologies like mental retardation, the identification of relevant genes in this region is important. We used a different approach by constructing microdissection libraries specifically for this region and isolating unique sequence microclones for detailed molecular analysis. We found that this region is enriched with middle and low-copy repetitive sequences, and is also heavily methylated. By sequencing and homology analysis, we identified a significant number of genes/cDNAs, most of which appear to belong to gene families. In addition, we used unique sequence microclones in direct screening of cDNA libraries and isolated 12 cDNAs for this region. Thus, although the 21q11-21 region is gene poor, it is not completely devoid of genes/cDNAs. The presence of high proportions of middle and low-copy repetitive sequences in this region may have evolutionary significance in the genome...Continue Reading

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Citations

Aug 26, 1999·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·M A MatzkeA J Matzke
Oct 20, 1998·Biulleten' eksperimental'noĭ biologii i meditsiny·D V BebikhovT A Nikonenko
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Apr 25, 2003·Trends in Genetics : TIG·Marjori A MatzkeAntonius J M Matzke
Mar 28, 2008·BMC Plant Biology·Ruo-Nan ZhouZan-Min Hu
Jun 8, 2001·American Journal of Human Genetics·M PogribnaS J James
Sep 5, 2006·Biochemical and Biophysical Research Communications·Abalo ChangoFrancis Willequet
Jun 10, 2003·American Journal of Medical Genetics. Part a·Hilary Tinkel-VernonLeonard Sciorra
Aug 7, 1998·Genomics·S E Antonarakis

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