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Topic: Chromosome 21 (human)

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	Facts About Down Syndrome
		This condition, in which three copies of chromosome 21 are present in all cells of the individual, is called trisomy 21.
		If the resulting sperm or ovum receives a chromosome 14 (or another chromosome), with a piece of chromosome 21 attached and retains the chromosome 21 that lost a section due to translocation, then the reproductive cells contain the normal or balanced amount of chromosome 21.
		In 88% of cases, the extra copy of chromosome 21 is derived from the mother.
	www.nichd.nih.gov /publications/pubs/downsyndrome.cfm (3817 words)

	Chromosome 21 - Genetics Home Reference
		Chromosome 21 is one of the 23 pairs of chromosomes in humans.
		Genes on chromosome 21 are among the estimated 20,000 to 25,000 total genes in the human genome.
		Changes to chromosome 21 include a missing segment of the chromosome in each cell (partial monosomy 21) and a circular structure called ring chromosome 21 that is caused by the breakage and reunion of both ends of the chromosome.
	www.ghr.nlm.nih.gov /chromosome=21 (787 words)

	NIH News Release--Down Syndrome Research Expedited by Decoding of Human Chromosome 21 - Second Human Chromosome ...
		It is the second human chromosome whose DNA has been fully deciphered by the Human Genome Project, the international consortium of scientists dedicated to spelling out, or sequencing, the 3 billion chemical letters of human DNA.
		Chromosome 22 was the first human chromosome to be sequenced.
		With the complete sequence of chromosome 21 available, scientists can better understand where genes are located on the chromosome, how they are expressed, how changes that give rise to disease-causing mutations occur, and how chromosomes are duplicated and inherited.
	www.nih.gov /news/pr/jun2000/nhgri-01.htm (616 words)

	Human Chromosome 21
		Human chimpanzee comparative genome research is essential for narrowing down genetic changes involved in the acquisition of unique human features such as highly developed cognitive functions, bipedalism, or the use of complex language.
		The DNA sequence of human chromosome 21 (HSA21) has opened the route for a systematic molecular characterization of all of its genes.
		Among the monogenic disorders linked to chromosome 21, APECED disease (OMIM_240300) is a monogenic autoimmune disorder linked to 21q22.3, which is due to mutations within a novel gene named AIRE for autoimmune regulator.
	chr21.molgen.mpg.de (924 words)

	Nature web focus: The Human Genome (Site not responding. Last check: )
		Human chromosome 21 gene expression atlas in the mouse
		A gene expression map of human chromosome 21 orthologues in the mouse
		Continuum of overlapping clones spanning the entire human chromosome 21q
	www.nature.com /nature/focus/humangenome/21.html (67 words)

	Science & Technology at Scientific American.com: Mapping Chromosome 21 -- The smallest human chromosome has so few ... (Site not responding. Last check: )
		Chromosome 21, which represents about 1 percent of the entire genome, was expected to be gene-poor, but not as impoverished as it now seems.
		Chromosome 22 is considered "gene-rich," but the new information is still making researchers revise their predictions about the genome itself.
		Also on chromosome 21 are genes that are as yet unidentified, but known to be responsible for five so-called monogenic disorders, including two forms of deafness and Usher and Knobloch's syndromes.
	www.sciam.com /article.cfm?articleID=0008F64A-4E58-1C75-9B81809EC588EF21 (738 words)

	Formula for Human Genius and Creativity
		Trisomy 21 is the existence of the third copy of the chromosome 21 in cells throughout the body of the affected person.
		Another chromosome 21 gene that might predispose Down syndrome individuals to develop Alzheimer's pathology is the gene that encodes the precursor of the amyloid protein.
		One of the greatest geniuses of the past century, Herbert Simon (Nobel prize in economics, 1978) has devoted his whole life to studying expertise and proposed another (very rough) formula: it takes 10 years for an individual to reach the top-rank level in any field of expertise (be it chess, medical diagnosis or botany).
	www.supermemo.com /articles/genius.htm (19026 words)

	Chromosome 21 Sequence Completed
		Humans are normally born with 23 different pairs of chromosomes that are made up of genes.
		The map of Chromosome 21 is 99.7 percent complete; "technical limitations prevented a complete mapping," said Dr. David Patterson, an American scientist involved in the project.
		Chromosome 21 is the second human chromosome sequence to be documented, encompassing more than 33 million base pairs of DNA, and its publication therefore marks a major scientific milestone.
	www.grg.org /Chrom21.htm (909 words)

	German-Japanese Consortium Deciphers Human Chromosome 21
		Chromosome 21 is one of the smallest among the 23 different human chromosomes.
		After the successful sequencing of chromosome 22 in December 1999 by a group of international scientists, chromosome 21 is now the second human chromosome which has been deciphered completely.
		By extrapolation from the number of 225 genes encoded by chromosome 21 and from the 545 genes encoded by chromosome 22, and considering the size of the human genome, the total number of human genes may be as little as 40,000.
	www.sciencedaily.com /releases/2000/05/000510165648.htm (956 words)

	genome.gov \| 2000 Release Chromosome 21 Sequenced
		It is the second human chromosome whose DNA has been fully deciphered by the Human Genome Project (HGP), the international consortium of scientists dedicated to spelling out, or sequencing, the 3 billion chemical letters of human DNA.
		Francis Collins, director of the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH), applauded the scientists who sequenced chromosome 21, for their achievement.
		That data is 99.9 percent accurate based on reading each area of the chromosome four to five times.
	www.genome.gov /10001485 (647 words)

	Human Genome Research Group (Site not responding. Last check: )
		This is the sequence data of chromosomes 21, 18 and 11 that was analysed using an original method which is extremely precise.
		HGRG (Human Genome Research Group) was launched in GSC (Genomic Sciences Center) of RIKEN as a national center for genome sciences, in which Human Genome Research Group was set for the large-scale sequencing of the human genome.
		HGRG (Human Genome Research Group) has and has contributed to determine the whole DNA sequence of human genome focusing to analyze chromosome 21, 18 and 11 in an international cooperation project (Human Genome Sequencing Project).
	hgp.gsc.riken.go.jp (339 words)

	HUGO HGM2003 - Presentation 1 - Human chromosome 21 versus chimpanzee chromosome 22: first whole-chromosome sequence ... (Site not responding. Last check: )
		To identify evolutionally and biologically important information in the genome, and especially on human chromosome 21, we are taking the strategy of comparative genomic sequence analysis between human and other related genomes such as those of rodents and primates.
		We sequenced a 1.6Mb region of the mouse which is syntenic to the Down syndrome critical region of human chromosome 21, and just recently as part of an international consortium, we helped sequence the entire long-arm of chimpanzee chromosome 22, the equivalent of human chromosome 21q.
		At the gene level, we have found all of the known human chromosome 21 genes in the equivalent finished regions of chimpanzee chromosome 22.
	hgm2003.hgu.mrc.ac.uk /Abstracts/Publish/Plenaries/Plenary01/hgm01.html (534 words)

	CNN.com - Genetic researchers announce big step in sequencing smallest chromosome - May 8, 2000
		Despite showing that Chromosome 21 has so few genes, scientists are interested in its content because it is the only one linked to Down Syndrome.
		The public Human Genome Project expects to have a rough draft of all the human chromosomes completed in a few months.
		The next chromosomes to be sequenced are likely to be Chromosome 20 and the male Y chromosome, according to Waterston.
	archives.cnn.com /2000/HEALTH/05/08/chromo.21 (695 words)

	LICR \| News \| Chromosome 21
		Out of the 23 pairs of chromosomes that act as a storage spot for all of our genes, chromosome 21 has been one of the most intensively studied ever since it was discovered that Down syndrome occurs in those who have an extra copy of this chromosome.
		An initial DNA sequence of chromosome 21 published two years ago confirmed 127 known genes and another 98 were predicted.
		Chromosome 21 is associated with several other disorders besides Down syndrome, including bipolar disease and certain types of cancer.
	www.licr.org /C_news/020604_chromosome21.php (544 words)

	Human Genome Research Group (Site not responding. Last check: )
		Five years ago, in the framework of the international human genome project, and as an integrated part of the chromosome 21 community, we have formed a consortium of academic groups from Germany and Japan to map and sequence this chromosome.
		Analysis of the chromosome revealed 127 known genes, 98 predicted genes, and 59 pseudogenes.
		The completed genome sequences for chromosome 21, as published in Nature on May 18, 2000, are available from here.
	hgp.gsc.riken.go.jp /chr21 (296 words)

	An Activity Associated with Human Chromosome 21 Permits Nuclear Colocalization of the Adenovirus E1B-55K and E4orf6 ...
		Human chromosome 21 permits the nuclear colocalization of the E1B-55K and E4orf6 proteins in a mouse cell background.
		a q-terminal fragment of chromosome 21 with the proximal breakpoint
		the proximal and distal breakpoints of the chromosome 21 fragment
	jvi.asm.org /cgi/content/full/77/14/8087 (9101 words)

	Mitotic errors in chromosome 21 of human preimplantation embryos are associated with non-viability -- Katz-Jaffe et al. ...
		Mitotic errors in chromosome 21 of human preimplantation embryos are associated with non-viability -- Katz-Jaffe et al.
		Mitotic errors in chromosome 21 of human preimplantation embryos are associated with non-viability
		mosaic mitotic error of chromosome 21 is associated with non-viability.
	molehr.oupjournals.org /cgi/content/abstract/10/2/143 (276 words)

	Genomic Sequencing & Gene Identification Group
		The team started with the chromosome-wide mapping efforts of human chromosome X but shifted their attention also to other regions of the human genome.
		Since 2000 the team is also involved in the genomic sequencing of selected parts of human chromosomes 1, 3, 17, and X (more).
		Recently, we contributed to the finished sequence of chimpanzee chromosome 22 the equivalent of human chromosome 21, a project coordinated in Germany by M.-L. Yaspo.
	www.molgen.mpg.de /~xteam (336 words)

	Trisomy 21 mosaicism (Site not responding. Last check: )
		It is estimated that 80% of all trisomy 21 pregnancies conceived end as spontaneous abortions or as stillbirths; approximately 2% of spontaneous abortions and 1% of stillbirths will have trisomy 21.
		trisomy 21 have a distinctive dysmorphic facial appearance with a flattened facial profile and occiput, flattened nasal bridge, upslanting palpebral fissures, and protruding tongue.
		In cases with greater than 50% trisomy 21 cells in amniotic fluid there was a 59% chance for abnormalities, as compared to 45% risk with less than 50% abnormal cell line.
	www.medgen.ubc.ca /wrobinson/mosaic/trisomy21.htm (810 words)

	Blocks of Limited Haplotype Diversity Revealed by High-Resolution Scanning of Human Chromosome 21 -- Patil et al. 294 ... (Site not responding. Last check: )
		All bases are the 32,397,439 bases of finshed chromosome 21 genomic DNA sequence which were the basis of this study.
		For 20 chromosomes: 10% SNPs are SNPs with a minor allele present two or more times in the sample of 20 chromosomes which were used to define SNP blocks; 10% haplotypes are the haplotypes in each block represented by two or more chromosomes.
		For 38 chromosomes: 10% SNPs are SNPs with a minor allele present four or more times in the sample of 38 chromosomes which were used to define SNP blocks; 10% haplotypes are the haplotypes in each block represented by four or more chromosomes.
	www.sciencemag.org /cgi/content/full/294/5547/1719/DC1 (412 words)

	Human Chromosome 21 SNP Database (Site not responding. Last check: )
		Chromosome 21 is the smallest human chromosome, the long arm of which comprises 34 MB of DNA sequence.
		It is associated with a number of human pathologies such as Down syndrome, as well as several monogenic and complex genetic disorders.
		Here we present a comprehensive cSNP (Single Nucleotide Polymorphisms within cDNA sequences) database and map which was generated using a combination of bioinformatics and experimental approaches (see methods), using the complete DNA sequence and the large amount of ESTs present in the public databases.
	csnp.unige.ch (118 words)

	Evolutionarily Conserved Sequences on Human Chromosome 21 -- Frazer et al. 11 (10): 1651 -- Genome Research (Site not responding. Last check: )
		Two 30-nt intervals, one with high conformance between human and dog sequences (97% conformance, red rectangle) and one with low conformance between human and dog sequences (60% conformance, blue rectangle), are shown.
		Alignments for Twenty-Two Human Chromosome 21 Genes with Previously-Sequenced Mouse Orthologs
		We analyzed 16,580,114 bp of nonrepetitive human chromosome 21 sequence by hybridization with orthologous mouse DNA.
	www.genome.org /cgi/content/full/11/10/1651 (6088 words)

	CEPH Chromosome 21 mapping resource (Site not responding. Last check: )
		According to the tradition established at CEPH by Jean Dausset and Daniel Cohen, CEPH announces the public and free availability of a new CEPH chromosome 21 mapping resource.
		Human total genome BAC library of 29568 clones with average insert size of 130 kb prepared by cloning of human lymphoblastoid cell line partially digested with BamHI enzyme into BamHI site of pBeloBAC II plasmid vector.
		Human total genome BAC library of 29568 clones with average insert size of 130 kb prepared by cloning of human lymphoblastoid cell line partially digested with HindIII enzyme into HindIII site of pBeloBAC II plasmid vector.
	www.cephb.fr /chromosome21.html (271 words)

	Sites of interest to human chromosome 21
		Chromosome specific cSNP database and map, covers a large proportion of chromosome 21 genes.
		A lists of the human protein sequence entries whose genes are known to be encoded on chromosome 21 in the latest release of SWISS-PROT as maintained by Stylianos Antonarakis
		Partial aneuploidies of chromosome 21: a genotype and phenotype database.
	medgen.unige.ch /links/hc21.html (368 words)

	Divergence of the genes on human chromosome 21 between human and other hominoids and variation of substitution rates ...
		Divergence of the genes on human chromosome 21 between human and other hominoids and variation of substitution rates among transcription units -- Shi et al.
		is the human homolog of the Drosophila minibrain gene (25),
		the implication of the divergences responsible for humanness.
	www.pnas.org /cgi/content/full/100/14/8331 (3415 words)

	Mice containing a human chromosome 21 model behavioral impairment and cardiac anomalies of Down's syndrome -- Shinohara ...
		Retention of the transferred Chr 21 was examined in tail biopsy from six chimeric mice, with ES cells and each ES cell line containing Chr 21 as controls.
		The retention of Chr 21 was determined by FISH with human COT-1 DNA to nuclei or metaphase spreads prepared from each tissue.
		Detection of transcripts of genes on the Chr 21 in various tissues of chimeric mice was compared with that in human tissues.
	hmg.oupjournals.org /cgi/content/full/10/11/1163 (7298 words)

	Comparative Genomic Sequence Analysis of the Human Chromosome 21 Down Syndrome Critical Region -- Toyoda et al. 12 (9): ...
		Human Genome Center, Institute of Medical Science, University of Tokyo, 4-6-1, Shirokanedai, Minato-ku, Tokyo, Japan
		Comprehensive knowledge of the gene content of human chromosome 21 (HSA21) is essential for understanding the etiology of
		chromosome 16 (MMU16) that corresponds to human chromosome 21q22.2.
	www.genome.org /cgi/content/abstract/12/9/1323 (323 words)

	Genome Project (Site not responding. Last check: )
		Human genome projects have generated an unprecedented amount of knowledge about human genetics and health.
		The human genome project is the result of an international consortium among many different sequencing and bioinformatics centers.
		The result is an unprecedented amount of knowledge concerning human genetics that will eventually result in breakthroughs in understanding human biology as well as significant medical advances.
	www.ncbi.nlm.nih.gov /genome/seq (715 words)

	Numerous potentially functional but non-genic conserved sequences on human chromosome 21 : Nature (Site not responding. Last check: )
		Here, we have compared the entire human chromosome 21 with syntenic regions of the mouse genome, and have identified a large number of conserved blocks of unknown function.
		Here we present an extensive experimental and computational analysis of human chromosome 21 in an effort to assign function to sequences conserved between human chromosome 21 (ref. 8) and the syntenic mouse regions.
		The integration of the properties of the conserved components of human chromosome 21 to the rapidly accumulating functional data for this chromosome
	dx.doi.org /10.1038/nature01251 (305 words)

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