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  • 1
    Electronic Resource
    Electronic Resource
    Single–minded and Down syndrome? (1995)
    [s.l.] : Nature Publishing Group
    Nature genetics 10 (1995), S. 9-10 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Sir — Trisomy 21 (Down syndrome) is the most common chromosomal abnormality associated with mental retardation in humans. In an effort to create a transcription map of chromosome 21 and characterize genes that contribute to the aetiology and pathophysiology of Down syndrome, we have used exon ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng0595-9
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  • 2
    Electronic Resource
    Electronic Resource
    Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence (1998)
    Springer
    Human genetics 〈Berlin〉 103 (1998), S. 386-392 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Cyclic nucleotide-specific phosphodiesterases (PDEs) play an essential role in signal transduction by regulating the intracellular concentration of second messengers (cAMP and cGMP). We have identified and made an initial characterization of a full-length cDNA encoding a novel human cyclic nucleotide phosphodiesterase, PDE9A. At least four different mRNA transcripts (PDE9A1, A2, A3, A4) are produced as a result of alternative splicing of 5′ exons, potentially changing the N-terminal amino acid sequences of the encoded proteins. All these predicted proteins would contain a 3′,5′-cyclic nucleotide phosphodiesterase signature motif (Prosite no. PDOC00116). Northern blot analysis revealed several mRNA species of approximately 2.4 kb with varying expression patterns and intensities in most tissues examined, except blood. We have also isolated the mouse homolog of the human PDE9A2 mRNA transcript, pde9A2. The human and mouse isoforms have 93 and 83% sequence identity at the amino acid and nucleotide levels, respectively. PDE9A was mapped to 21q22.3, between TFF1 and D21S360. Comparison of the PDE9A1 cDNA with the genomic sequence from the region revealed that the gene is split into 20 exons that extend over 122 kb. Comparison of the physical map of the region and the genomic sequence further refines the mapping, with D21S113 being derived from intron 15. Several genetic disorders map to 21q22.3, including one form of bipolar affective disorder. Since functional disturbances in intraneuronal signal transmission via second messengers play an important role in the pathophysiology of affective disorders, PDE9A is a strong candidate for such a role by position and function.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050838
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  • 3
    Electronic Resource
    Electronic Resource
    Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21 (2000)
    Springer
    Human genetics 〈Berlin〉 107 (2000), S. 127-131 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. The testis-expressed human TPTE is a putative transmembrane tyrosine phosphatase, probably involved in signal transduction pathways of the endocrine and/or the spermatogenetic function of the testis. TPTE was mapped to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y. It is unknown which of the TPTE copies are transcribed, contain intronic sequences, and/or have open reading frames. Here, in silico analysis of the genomic sequence of human chromosome 21 allowed the determination of the genomic structure of a copy of the TPTE gene. This copy consists of 24 exons and spans approximately 87 kb. The mapping position of this copy of TPTE on the short arm of chromosome 21 was confirmed by FISH using the BAC 15L0C0 clone as a probe that contains almost the entire TPTE gene. This is the first description of the genomic sequence of a non-RNR gene on the short arm of human acrocentric chromosomes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390000343
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  • 4
    Electronic Resource
    Electronic Resource
    Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2–q22.3 (1996)
    Springer
    Human genetics 〈Berlin〉 98 (1996), S. 672-677 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Exon trapping was used to identify fragments of genes on human chromosome 21. One trapped sequence, hmc18h10 (GenBank no. X88329), showed homology to a sequence (GenBank no. S65225) that includes the first three codons of the rat PEP-19 gene and 5′ untranslated leader region. We have cloned the corresponding cDNA for a human homolog of the rat PEP-19 gene and mapped it to the region between markers ERG and D21S56 of chromosome 21q22.2–q22.3. Rat PEP-19 is a neuron-specific polypeptide expressed in several regions of the central nervous system. It serves as a cell-specific marker in Purkinje cells and its expression is developmentally regulated in the cerebellum, but its precise function is unknown. It is also presently unknown whether overexpression of the PEP-19 gene is involved in certain phenotypes of Down syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050282
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  • 5
    Electronic Resource
    Electronic Resource
    Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3 (1997)
    Springer
    Human genetics 〈Berlin〉 99 (1997), S. 616-623 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Exon trapping was performed with chromosome 21 cosmids to identify those that may be involved in the pathogenesis of Down syndrome, or several of the genetic diseases that map to chromosome 21. BLASTX analysis revealed two exons with significant homology to a zebrafish protein (ES1) and an Escherichia coli protein (σ cross-reacting protein 27A), both of unknown function. The exons also showed identity with several expressed sequence tags (ESTs). Sequences from all ESTs derived from this gene and reverse transcription-polymerase chain reaction (RT-PCR) analysis were used to determine the full cDNA sequence, which corresponded to an mRNA of 1.7 kb with an open reading frame of 268 amino acids. The mRNA from this gene, termed HES1, is ubiquitously expressed, but strongly so in heart and skeletal muscle. Potential mitochondrial targeting signals were found in both the human and zebrafish proteins, consistent with the high expression levels in muscle tissues. The strong homology between the E. coli, zebrafish and HES1 proteins suggests an important biological role. Hybridization of RT-PCR products to a cosmid contig in chromosome 21q22.3, mapped HES1 just proximal to D21S25, a critical mapping region for several genetic diseases. Given the mapping position, this gene is a candidate for involvement in these disorders, including autoimmune polyglandular disease type I and the autosomal nonsyndromic deafness loci, DFNB8 and DFNB10. In addition, the initial method of EST identification for gene isolation presented here is valid for many genes and can be used to obtain initial sequence contigs without cloning or library screening.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050416
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  • 6
    Electronic Resource
    Electronic Resource
    The human lanosterol synthase gene maps to chromosome 21q22.3 (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 620-624 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract In order to contribute to the development of the transcriptional map of human chromosome 21 (HC21) we have used exon trapping to identify portions of HC21 genes. Using pools of random HC21-specific cosmids from the LL21NC02-Q library and cosmids from 21q22.3 we have identified five different coding regions with strong homology to the lanosterol synthase genes of rat and yeast. This enzyme catalyzes the cyclization of squalene-2,3-epoxide to lanosterol, which is the parental compound of all steroids in mammals. Using somatic cell hybrids and HC21 yeast artificial chromosomes (YACs) and cosmids, we mapped the human lanosterol synthase gene to 21q22.3 between markers D21S25 and 21qter. Cosmid Q7G8 from the LL21NC02-Q library and YAC 145D8 from the CEPH HC21 contig contain this human gene. We cloned a portion of the human lanosterol synthase cDNA (almost 85% of the coding region) from a brain cDNA library and determined its nucleotide sequence. The predicted human protein shows 83% identity to its rat and 40% to its yeast homolog. No obvious candidate human disease exists for lanosterol synthase deficiency and the role (if any) of triplication of this gene in the various phenotypes of trisomy 21 is unknown.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050105
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  • 7
    Electronic Resource
    Electronic Resource
    The human lanosterol synthase gene maps to chromosome 21q22.3 (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 620-624 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract In order to contribute to the development of the transcriptional map of human chromosome 21 (HC21) we have used exon trapping to identify portions of HC21 genes. Using pools of random HC21-specific cosmids from the LL21NC02-Q library and cosmids from 21q22.3 we have identified five different coding regions with strong homology to the lanosterol synthase genes of rat and yeast. This enzyme catalyzes the cyclization of squalene-2,3-epoxide to lanosterol, which is the parental compound of all steroids in mammals. Using somatic cell hybrids and HC21 yeast artificial chromosomes (YACs) and cosmids, we mapped the human lanosterol synthase gene to 21q22.3 between markers D21S25 and 21qter. Cosmid Q7G8 from the LL21NC02-Q library and YAC 145D8 from the CEPH HC21 contig contain this human gene. We cloned a portion of the human lanosterol synthase cDNA (almost 85% of the coding region) from a brain cDNA library and determined its nucleotide sequence. The predicted human protein shows 83% identity to its rat and 40% to its yeast homolog. No obvious candidate human disease exists for lanosterol synthase deficiency and the role (if any) of triplication of this gene in the various phenotypes of trisomy 21 is unknown.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02281872
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  • 8
    Electronic Resource
    Electronic Resource
    Localisation of a human homologue of the Drosophila mnb and rat Dyrk genes to chromosome 21q22.2 (1997)
    Springer
    Human genetics 〈Berlin〉 99 (1997), S. 262-265 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Exon trapping was used to identify portions of human chromosome 21-encoded genes. More than 600 potential exons on the chromosome have been cloned and characterised to date. A BLAST search of databases revealed that three of these trapped “exons”, hmc18a08, hmc18f10 and hmc27g09, showed strong homology to different regions of the Drosophila mnb (Genbank X70794) and rat Dyrk (Genbank X79769) genes, indicating that these three exons may be portions of a human homologue of these genes (we termed this gene MNB for minibrain). With amplification by the polymerase chain reaction and hybridisation analysis we have mapped the human MNB gene on overlapping yeast artificial chromosomes 336G11 and 806A11 of chromosome 21q22.2 between markers D21S65 and ERG. The Drosophila mnb (minibrain) gene, which encodes a member of the protein kinase family, is involved in postembryonic neurogenesis. The Dyrk gene, which encodes a dual specificity protein kinase, is a rat homologue of the Drosophila mnb gene. The kinase activity is dependent on tyrosine residues in the catalytic domain, and it has been speculated that the protein is involved in control of the cell cycle. Altered expression of the human MNB gene may be involved in the pathogenesis of certain phenotypes of Down syndrome, including mental retardation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050350
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