Chromosome 9


Human chromosome 9 is a submetacentric chromosome that accounts for 4% of the human genome. It contains an unusually extensive pericentromeric heterochromatic region and gene clusters encoding, among other proteins, the α‐interpherons and olfactory receptors.

Keywords: genetic map; physical map; HChr9; submetacentric; homology; genetic disease


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Jolly C, Konecny L, Grady DL, et al. (2002) In vivo binding of active heat shock transcription factor 1 to human chromosome 9 heterochromatin during stress. Journal of Cell Biology 156: 775–781.

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Further Reading

Campuzano V, Montermini L, Molto MD, et al. (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271(5254): 1423–1427.

Kobayashi K, Nakahori Y, Miyake M, et al. (1998) An ancient retrotransposal insertion causes Fukuyama‐type congenital muscular dystrophy. Nature 394(6691): 388–392.

Kurima K, Peters LM, Yang Y, et al. (2002) Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair‐cell function. Nature Genetics 30(3): 277–284.

Levy GG, Nichols WC, Lian EC, et al. (2001) Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 413(6855): 488–494.

Starke H, Seidel J, Henn W, et al. (2002) Homologous sequences at human chromosome 9 bands p12 and q13‐21.1 are involved in different patterns of pericentric rearrangements. European Journal of Human Genetics 10(12): 790–800.

Web Links

An STS‐based Map of the Human Genome. This site contains integrated maps of all human chromosomes with more than 24,000 STSs anchored to both radiation hybrid and genetic maps‐bin/contig/phys_map

Cancer Genome Anatomy Project. Genetic Annotation Initiative (GAI) is part of the Cancer Genome Anatomy Project and is aimed at identifying and characterizing genetic variation in genes important in cancer‐snp/imagemaps.html

Celera. This site contains the human and mouse genome sequences generated by Celera. There is a fee for access to the data

CEPH Genotype Database. This site contains a database of all genetic markers that have been genotyped in the CEPH reference families

Computational Biology at ORNL. This site is part of the computational biology program at Oak Ridge National Laboratory. It provides gene prediction for various sequence contigs on chromosome 9 and graphically displays this information‐bin/GCat/GetChrom.cgi?org=human&chr=9

Computational Genetics at Rutgers. This web site contains information and links relating to radiation hybrid mapping

eGenome. This is a comprehensive position based catalog of the human genome cataloging various genomic landmarks including transcripts, markers, polymorphisms, large insert clones and DNA sequence

Ensembl Genome Browser. This site produces and maintains automatic annotation of eukaryotic genomes

Genetic Location Database (LDB). The genetic location database gives locations for expressed sequences and polymorphic markers. Locations are obtained by integrating data of different types (genetic linkage maps, radiation hybrid maps, physical maps, cytogenetic data and mouse homology) and constructing a single ‘summary’ map

Genome Database (GDB). The genome database is an international collaboration formed to support the human genome project. It is a searchable archive of genes and genetic markers

Genome Monitoring Table. This site monitors the status of various large genome sequencing projects and is updated on a daily basis monitoring table

Human Telomere Mapping and Sequencing Project. This site contains sequence from the telomeres from all the human chromosomes

Marshfield Center for Medical Genetics. This site contains genetic linkage maps of all of the human chromosomes

Mouse Genome Informatics (MGI 2.8). This site is a comprehensive listing of mammalian homology and comparative maps that allows you to search by gene name or map location, as well as view whole‐genome maps

National Center for Biotechnology Information (NCBI) dbSNP. This site is the single nucleotide polymorphism database maintained by the National Center for Biotechnology Information

Sanger Centre. This site is the human chromosome 9 sequencing project overview page that reports the sequencing status of the chromosome. The Sanger Centre is a genome research institute funded by the Wellcome Trust

SNP Consortium. This is the website of the SNP Consortium Ltd, a public/private collaboration that has to date discovered and characterized nearly 1.8 million SNPs

UCSC Genome Bioinformatics. The UCSC Genome Bioinformatics site contains working drafts for the human genome and the mouse genome. The Genome Browser and the data it displays are freely available for academic, nonprofit and personal use

Washington University Genome Center. The focus of the Washington University Genome Center is sequencing human and microbial genomes and analysis of genetic variations among populations. This site describes the various sequencing projects and provides progress updates

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How to Cite close
Slaugenhaupt, Susan A, and Ozelius, Laurie J(Jan 2006) Chromosome 9. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005818]