Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.

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Daniels RJ, Peden JF, Lloyd C, Horsley SW, Clark K, Tufarelli C, Kearney L, Buckle VJ, Doggett NA, Flint J, Higgs DR

Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.

Hum Mol Genet. 2001 Feb 15;10(4):339-52.

PubMed ID
11157797 [ View in PubMed
]
Abstract

We have sequenced 1949 kb from the terminal Giemsa light band of human chromosome 16p, enabling us to fully annotate the region extending from the telomeric repeats to the previously published tuberous sclerosis disease 2 (TSC2) and polycystic kidney disease 1 (PKD1) genes. This region can be subdivided into two GC-rich, Alu-rich domains and one GC-rich, Alu-poor domain. The entire region is extremely gene rich, containing 100 confirmed genes and 20 predicted genes. Many of the genes encode widely expressed proteins orchestrating basic cellular processes (e.g. DNA recombination, repair, transcription, RNA processing, signal transduction, intracellular signalling and mRNA translation). Others, such as the alpha globin genes (HBA1 and HBA2), PDIP and BAIAP3, are specialized tissue-restricted genes. Some of the genes have been previously implicated in the pathophysiology of important human genetic diseases (e.g. asthma, cataracts and the ATR-16 syndrome). Others are known disease genes for alpha thalassaemia, adult polycystic kidney disease and tuberous sclerosis. There is also linkage evidence for bipolar affective disorder, epilepsy and autism in this region. Sixty-three chromosomal deletions reported here and elsewhere allow us to interpret the results of removing progressively larger numbers of genes from this well defined human telomeric region.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Hemoglobin subunit alphaP69905Details
Methionine-R-sulfoxide reductase B1Q9NZV6Details
Voltage-dependent T-type calcium channel subunit alpha-1HO95180Details
Hydroxyacylglutathione hydrolase, mitochondrialQ16775Details
Somatostatin receptor type 5P35346Details
Axin-1O15169Details
MesothelinQ13421Details
DNA-3-methyladenine glycosylaseP29372Details