Brunella Franco, Telethon Institute of Genetics and Medicine, Naples, Italy
Published online: January 2006
DOI: 10.1038/npg.els.0005924
The human X chromosome is a submetacentric chromosome that contains ~5% of the genetic material in the genome. It is characterized by two X–Y homologous (pseudoautosomal) regions that are necessary for normal meiosis. The chromosome is relatively gene-rich and most of these are subject to X-inactivation.
Keywords: chromosome X; sequencing; X inactivation; X-linked diseases, chromosomal abnormalities
| References | |
| Avner P and Heard E (2001) X-chromosome inactivation: counting, choice and initiation. Nature Reviews Genetics 2: 59–67. | |
| Chelly J and Mandel JL (2001) Monogenic causes of X-linked mental retardation. Nature Reviews Genetics 2: 669–680. | |
| Graves JA, Wakefield MJ and Toder R (1998) The origin and evolution of the pseudoautosomal regions of human sex chromosomes. Human Molecular Genetics 7: 1991–1996. | |
| Hogenesch JB, Ching KA, Batalov S, et al. (2001) A comparison of the Celera and Ensembl predicted gene sets reveals little overlap in novel genes. Cell 106: 413–415. | |
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| Maxfield Boumil R and Lee JT (2001) Forty years of decoding the silence in X-chromosome inactivation. Human Molecular Genetics 10: 2225–2232. | |
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| Further Reading | |
| Chelly J (1999) Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation. Human Molecular Genetics 8: 1833–1838. | |
| Ciccodicola A, D'Esposito M, Esposito T, et al. (2000) Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region. Human Molecular Genetics 9: 395–401. | |
| De Sario A, Geigl E-M, Palmieri G, D'Urso M and Bernardi G (1996) A compositional map of human chromosome band Xq28. Proceedings of the National Academy of Sciences of the United States of America 93: 1298–1302. | |
| Gianfrancesco F, Sanges R, Esposito T, et al. (2001) Differential divergence of three human pseudoautosomal genes and their mouse homologs: implications for sex chromosome evolution. Genome Research 11: 2095–2100. | |
| book Nussbaum RL, McInnes RR and Willard HF (2001) Thompson and Thompson Genetics in Medicine. Philadelphia, PA: WB Saunders. | |
| book Strachan T and Read AP (1999) Human Molecular Genetics. New York, NY: John Wiley. | |
| Web Links | |
| ePath http://www.ncbi.nlm.nih.gov:80/htbin-post/Omim/getmap NCBI Online Mendelian Inheritance in Man. OMIM Gene Map Diseases can be listed by chromosome location http://locus.umdnj.edu/nigms/chrmap/Xtrans.html | |
| ePath Coriell Cell Repositories. Catalog of cytogenetic abnormalities affecting the X chromosome http://www.infobiogen.fr/services/chromcancer/Indexbychrom/idx_X.html | |
| ePath Collection of cytogenetic abnormalities in cancer. Atlas of Genetics and Cytogenetics in Oncology and Haematology http://www.ncbi.nlm.nih.gov/genome/guide/human | |
| ePath NCBI Genomes Guide. A site to follow the progress and the state of the art of the Human Genome project http://www.ncbi.nlm.nih.gov/Omim/ | |
| ePath NCBI Online Mendelian Inheritance in Man. Home Page On-line Mendelian Inheritance in Man, the central database of human genes and Mendelian characters. MIM numbers are the index numbers for entries in OMIM http://www.gene.ucl.ac.uk/cgi-bin/nomenclature/searchgenes.pl | |
| ePath Genew: Human Gene Nomenclature Database Search Engine http://www.ncbi.nlm.nih.gov/LocusLink/ | |
| other NCBI LocusLink | |
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