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Titolo:
Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16
Autore:
Daniels, RJ; Peden, JF; Lloyd, C; Horsley, SW; Clark, K; Tufarelli, C; Kearney, L; Buckle, VJ; Doggett, NA; Flint, J; Higgs, DR;
Indirizzi:
John Radcliffe Hosp, Weatherall Inst Mol Med, MRC, Mol Haematol Unit, Oxford OX3 9DS, England John Radcliffe Hosp Oxford England OX3 9DS Unit, Oxford OX3 9DS, England Sanger Ctr, Cambridge CB10 1SA, England Sanger Ctr Cambridge England CB10 1SA r Ctr, Cambridge CB10 1SA, England Univ Calif Los Alamos Natl Lab, Los Alamos, NM 87545 USA Univ Calif Los Alamos Natl Lab Los Alamos NM USA 87545 amos, NM 87545 USA
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 4, volume: 10, anno: 2001,
pagine: 339 - 352
SICI:
0964-6906(20010215)10:4<339:SSAPOT>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
POLYCYSTIC KIDNEY-DISEASE; CONTIGUOUS GENE SYNDROME; PROTEIN-CODING REGIONS; HUMAN TELOMERIC REGION; MAST-CELL TRYPTASE; OPTIC LOBES GENE; MENTAL-RETARDATION; HUMAN GENOME; TUBEROUS SCLEROSIS; MOUSE HOMOLOG;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
81
Recensione:
Indirizzi per estratti:
Indirizzo: Higgs, DR John Radcliffe Hosp, Weatherall Inst Mol Med, MRC, Mol Haematol Unit, Oxford OX3 9DS, England John Radcliffe Hosp Oxford England OX3 9DS rd OX3 9DS, England
Citazione:
R.J. Daniels et al., "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16", HUM MOL GEN, 10(4), 2001, pp. 339-352

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 CC-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 andmRNA 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 humangenetic 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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/11/20 alle ore 17:01:03