Transcriptional consequences of autosomal trisomy: primary gene dosage with complex downstream effects

被引：68

作者：

FitzPatrick, DR ^{[1
]}

机构：

[1] Western Gen Hosp, MRC, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

来源：

TRENDS IN GENETICS | 2005年 / 21卷 / 05期

关键词：

D O I：

10.1016/j.tig.2005.02.012

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

Autosomal trisomy is a common cause of human miscarriage, malformations and learning disability. Primary gene-dosage effects have been confirmed by recent transcriptome analyses. The importance (or existence) of trans-acting effects on disomic genes remains, surprisingly, controversial. In this article, I propose a model of the main genetic mechanisms that are responsible for producing the transcriptional derangement associated with trisomy. This has implications for future study design.

引用

页码：249 / 253

页数：5

共 22 条

[1]

1ST-TRIMESTER BIOCHEMICAL SCREENING FOR FETAL CHROMOSOME-ABNORMALITIES AND NEURAL-TUBE DEFECTS [J].

AITKEN, DA ;

MCCAW, G ;

CROSSLEY, JA ;

BERRY, E ;

CONNOR, JM ;

SPENCER, K ;

MACRI, JN .

PRENATAL DIAGNOSIS, 1993, 13 (08) :681-689

[2]

Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome [J].

Amano, K ;

Sago, H ;

Uchikawa, C ;

Suzuki, T ;

Kotliarova, SE ;

Nukina, N ;

Epstein, CJ ;

Yamakawa, K .

HUMAN MOLECULAR GENETICS, 2004, 13 (13) :1333-1340

[3]

Antonio A, 2004, J PROD ANAL, V21, P5

[4]

Discovery and genetic localization of Down syndrome cerebellar phenotypes using the Ts65Dn mouse [J].

Baxter, LL ;

Moran, TH ;

Richtsmeier, JT ;

Troncoso, J ;

Reeves, RH .

HUMAN MOLECULAR GENETICS, 2000, 9 (02) :195-202

[5]

Dosage-dependent gene regulation in multicellular eukaryotes: Implications for dosage compensation, aneuploid syndromes, and quantitative traits [J].

Birchler, JA ;

Bhadra, U ;

Bhadra, MP ;

Auger, DL .

DEVELOPMENTAL BIOLOGY, 2001, 234 (02) :275-288

[6]

Karyotype, phenotype and parental origin in 19 cases of triploidy [J].

Daniel, A ;

Wu, ZH ;

Bennetts, B ;

Slater, H ;

Osborn, R ;

Jackson, J ;

Pupko, V ;

Nelson, J ;

Watson, G ;

Cooke-Yarborough, C ;

Loo, C .

PRENATAL DIAGNOSIS, 2001, 21 (12) :1034-1048

[7]

Tetraploid development in the mouse [J].

Eakin, GS ;

Behringer, RR .

DEVELOPMENTAL DYNAMICS, 2003, 228 (04) :751-766

[8]

Epstein CJ., 1986, CONSEQUENCES CHROMOS

[9]

Transcriptome analysis of human autosomal trisomy [J].

FitzPatrick, DR ;

Ramsay, J ;

McGill, NI ;

Shade, M ;

Carothers, AD ;

Hastie, ND .

HUMAN MOLECULAR GENETICS, 2002, 11 (26) :3249-3256

[10]

Mouse models of Down syndrome: how useful can they be? Comparison of the gene content of human chromosome 21 with orthologous mouse genomic regions [J].

Gardiner, K ;

Fortna, A ;

Bechtel, L ;

Davisson, MT .

GENE, 2003, 318 :137-147

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