Mechanisms and pathways of growth failure in primordial dwarfism

被引：178

作者：

Klingseisen, Anna ^{[1
]}

Jackson, Andrew P. ^{[1
]}

机构：

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

来源：

GENES & DEVELOPMENT | 2011年 / 25卷 / 19期

基金：

英国医学研究理事会;

关键词：

DNA damage response; DNA replication; cell cycle; centrosome; organism growth; primordial dwarfism; ORIGIN RECOGNITION COMPLEX; LIGASE IV DEFICIENCY; CELL-CYCLE EXIT; II MOPD-II; SIZE-CONTROL; GENETIC-CONTROL; DNA-REPLICATION; SECKEL-SYNDROME; MAP KINASE; ORGAN SIZE;

D O I：

10.1101/gad.169037

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

The greatest difference between species is size; however, the developmental mechanisms determining organism growth remain poorly understood. Primordial dwarfism is a group of human single-gene disorders with extreme global growth failure (which includes Seckel syndrome, microcephalic osteodysplastic primordial dwarfism I [MOPD] types I and II, and Meier-Gorlin syndrome). Ten genes have now been identified for microcephalic primordial dwarfism, encoding proteins involved in fundamental cellular processes including genome replication (ORC1 [origin recognition complex 1], ORC4, ORC6, CDT1, and CDC6), DNA damage response (ATR [ataxia-telangiectasia and Rad3-related]), mRNA splicing (U4atac), and centrosome function (CEP152, PCNT, and CPAP). Here, we review the cellular and developmental mechanisms underlying the pathogenesis of these conditions and address whether further study of these genes could provide novel insight into the physiological regulation of organism growth.

引用

页码：2011 / 2024

页数：14

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