Human chromosome 4 is a submetacentric chromosome that contains approximately 6.5% of the human genome.
Chromosome 4
Michael R Altherr, Los Alamos National Laboratory, Los Alamos, New Mexico, USA
Published online: January 2006
DOI: 10.1038/npg.els.0005813
| References | |
| Altherr MR, Smith B, MacDonald ME, Hall L and Wasmuth JJ (1989) Isolation of a novel mildly repetitive DNA sequence that is predominantly located at the terminus of the short arm of chromosome 4 near the Huntington disease gene. Genomics 5: 581–588. | |
| Bengtsson U, Altherr MR, Wasmuth JJ and Winokur ST (1994) High resolution fluorescence in situ hybridization to linearly extended DNA visually maps a tandem repeat associated with facioscapulohumeral muscular dystrophy immediately adjacent to the telomere of 4q. Human Molecular Genetics 3: 1801–1805. | |
| van Deutekom JC, Bakker E, Lemmers RJ, et al. (1996) Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1. Human Molecular Genetics 5(12): 1997–2003. | |
| Endele S, Fuhry M, Pak S-J, Zabel B and Winterpacht A (1999) LETM1 – a novel gene encoding a putative EF-hand Ca2+-binding protein flanks the Wolf–Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients. Genomics 60: 218–225. | |
| Gusella JF, Wexler NS, Conneally PM, et al. (1983) A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306: 234–238. | |
| Huntington's Disease Collaborative Research Group (1993) The number of CAG repeats is 10 to 34 in normal individuals and 37 to 100 in HD patients. Cell 72: 971–983. | |
| IHGSC (International Human Genome Sequencing Consortium) (2001) Initial sequencing and analysis of the human genome. Nature 409: 860–921. | |
| Naf D, Wilson L, Bergstrom R, et al. (2001) Mouse models for the Wolf–Hirschhorn contiguous gene syndrome. Human Molecular Genetics 10: 91–98. | |
| Stec I, Wright TJ, van Ommen GJ, et al. (1998) WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf–Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. Human Molecular Genetics 7(7): 1071–1082. | |
| Venter JC, Adams MD, Myers EW, et al. (2001) The sequence of the human genome. Science 291: 1304–1351. | |
| Wijmenga C, Hewitt JE, Sandkuijl LA, et al. (1992) Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nature Genetics 2: 26–30. | |
| Winokur ST, Bengtsson U, Feddersen J, et al. (1994) The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease. Chromosome Research 2(3): 225–234. | |
| Wright TJ, Costa JL, Naranjo C, Francis-West P and Altherr MR (1999) Comparative analysis of a novel gene from the Wolf–Hirschhorn/Pitt–Rogers–Danks syndrome critical region. Genomics 59: 203–212. | |
| Wright TJ, Ricke DO, Denison K, et al. (1997) A transcript map of the newly defined 165 kb Wolf–Hirschhorn syndrome critical region. Human Molecular Genetics 6: 317–324. | |
| Web Links | |
| ePath Chromosomal Variation in Man http://www.wiley.com/legacy/products/subject/life/borgaonkar/index.html | |
| ePath Coriell Cell Repositories http://locus.umdnj.edu/ccr/ | |
| ePath Genew: Human Gene Nomenclature Database Search Engine. Contains all HUGO approved gene symbols and names, together with links to further information http://www.gene.ucl.ac.uk/cgi-bin/nomenclature/searchgenes.pl | |
| ePath Jackson Laboratory http://www.jax.org/resources/documents/ | |
| ePath Marshfield Center for Medical Genetics: comprehensive human genetic maps http://research.marshfieldclinic.org/genetics/Map_Markers/maps/IndexMapFrames.html | |
| ePath Mitelman Database of Chromosome Aberrations in Cancer http://cgap.nci.nih.gov/Chromosomes/Mitelman | |
| ePath NCBI Entrez Genome Map View http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?org=hum&chr4 | |
| ePath NCBI Genomic Biology http://www.ncbi.nlm.nih.gov/Genomes/index.html | |
| ePath NCBI LocusLink. A single query interface to curated sequences and descriptive information about genetic loci. Contains information on official nomenclature, aliases, sequence accessions, phenotypes, MIM numbers, homology, map locations, related web sites, etc. http://www.ncbi.nlm.nih.gov/LocusLink/ | |
| ePath NCBI SNP database http://www.ncbi.nlm.nih.gov/SNP/get_html.cgi?whichHtml=./maplists/maplist-newmap | |
| ePath Online Mendelian Inheritance in Man (OMIM) http://www.ncbi.nlm.nih.gov/Omim/searchmorbid.html | |
| ePath UCSC Genome Bioinformatics http://genome.ucsc.edu/index.html | |
