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DNA sequence and analysis of human chromosome 9.


ABSTRACT: Chromosome 9 is highly structurally polymorphic. It contains the largest autosomal block of heterochromatin, which is heteromorphic in 6-8% of humans, whereas pericentric inversions occur in more than 1% of the population. The finished euchromatic sequence of chromosome 9 comprises 109,044,351 base pairs and represents >99.6% of the region. Analysis of the sequence reveals many intra- and interchromosomal duplications, including segmental duplications adjacent to both the centromere and the large heterochromatic block. We have annotated 1,149 genes, including genes implicated in male-to-female sex reversal, cancer and neurodegenerative disease, and 426 pseudogenes. The chromosome contains the largest interferon gene cluster in the human genome. There is also a region of exceptionally high gene and G + C content including genes paralogous to those in the major histocompatibility complex. We have also detected recently duplicated genes that exhibit different rates of sequence divergence, presumably reflecting natural selection.

SUBMITTER: Humphray SJ 

PROVIDER: S-EPMC2734081 | biostudies-literature | 2004 May

REPOSITORIES: biostudies-literature

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DNA sequence and analysis of human chromosome 9.

Humphray S J SJ   Oliver K K   Hunt A R AR   Plumb R W RW   Loveland J E JE   Howe K L KL   Andrews T D TD   Searle S S   Hunt S E SE   Scott C E CE   Jones M C MC   Ainscough R R   Almeida J P JP   Ambrose K D KD   Ashwell R I S RI   Babbage A K AK   Babbage S S   Bagguley C L CL   Bailey J J   Banerjee R R   Barker D J DJ   Barlow K F KF   Bates K K   Beasley H H   Beasley O O   Bird C P CP   Bray-Allen S S   Brown A J AJ   Brown J Y JY   Burford D D   Burrill W W   Burton J J   Carder C C   Carter N P NP   Chapman J C JC   Chen Y Y   Clarke G G   Clark S Y SY   Clee C M CM   Clegg S S   Collier R E RE   Corby N N   Crosier M M   Cummings A T AT   Davies J J   Dhami P P   Dunn M M   Dutta I I   Dyer L W LW   Earthrowl M E ME   Faulkner L L   Fleming C J CJ   Frankish A A   Frankland J A JA   French L L   Fricker D G DG   Garner P P   Garnett J J   Ghori J J   Gilbert J G R JG   Glison C C   Grafham D V DV   Gribble S S   Griffiths C C   Griffiths-Jones S S   Grocock R R   Guy J J   Hall R E RE   Hammond S S   Harley J L JL   Harrison E S I ES   Hart E A EA   Heath P D PD   Henderson C D CD   Hopkins B L BL   Howard P J PJ   Howden P J PJ   Huckle E E   Johnson C C   Johnson D D   Joy A A AA   Kay M M   Keenan S S   Kershaw J K JK   Kimberley A M AM   King A A   Knights A A   Laird G K GK   Langford C C   Lawlor S S   Leongamornlert D A DA   Leversha M M   Lloyd C C   Lloyd D M DM   Lovell J J   Martin S S   Mashreghi-Mohammadi M M   Matthews L L   McLaren S S   McLay K E KE   McMurray A A   Milne S S   Nickerson T T   Nisbett J J   Nordsiek G G   Pearce A V AV   Peck A I AI   Porter K M KM   Pandian R R   Pelan S S   Phillimore B B   Povey S S   Ramsey Y Y   Rand V V   Scharfe M M   Sehra H K HK   Shownkeen R R   Sims S K SK   Skuce C D CD   Smith M M   Steward C A CA   Swarbreck D D   Sycamore N N   Tester J J   Thorpe A A   Tracey A A   Tromans A A   Thomas D W DW   Wall M M   Wallis J M JM   West A P AP   Whitehead S L SL   Willey D L DL   Williams S A SA   Wilming L L   Wray P W PW   Young L L   Ashurst J L JL   Coulson A A   Blöcker H H   Durbin R R   Sulston J E JE   Hubbard T T   Jackson M J MJ   Bentley D R DR   Beck S S   Rogers J J   Dunham I I  

Nature 20040501 6990


Chromosome 9 is highly structurally polymorphic. It contains the largest autosomal block of heterochromatin, which is heteromorphic in 6-8% of humans, whereas pericentric inversions occur in more than 1% of the population. The finished euchromatic sequence of chromosome 9 comprises 109,044,351 base pairs and represents >99.6% of the region. Analysis of the sequence reveals many intra- and interchromosomal duplications, including segmental duplications adjacent to both the centromere and the larg  ...[more]

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