Monosomy for the X chromosome

被引：27

作者：

Bondy, Carolyn A. ^{[1
]}

Cheng, Clara ^{[1
]}

机构：

[1] NICHHD, Dev Endocrinol Branch, NIH, Bethesda, MD 20892 USA

来源：

CHROMOSOME RESEARCH | 2009年 / 17卷 / 05期

关键词：

Turner syndrome; X-monosomy; dosage compensation; X inactivation; pseudoautosomal gene; epigenetics; chromosomal interaction; TURNER-SYNDROME; GENE-EXPRESSION; DOSAGE COMPENSATION; GROWTH-HORMONE; SHORT STATURE; CELL-LINES; INACTIVATION; PHENOTYPE; FEMALE; SEX;

D O I：

10.1007/s10577-009-9052-z

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Dosage compensation serves to equalize X chromosome gene expression in mammalian males and females and involves extensive silencing of the 2nd X chromosome in females. If dosage compensation mechanisms completely suppressed the 2nd X chromosome, then actual physical loss of this "eXtra" chromosome should have few consequences. However, X monosomy has major effects upon normal development, fertility and longevity in humans and some other species. This article reviews observations and arguments attempting to explain the phenotypic effects of X monosomy in humans and other mammals in terms of X chromosome gene dosage.

引用

页码：649 / 658

页数：10

共 58 条

[31]

2-O

[32] Dosage compensation of the active X chromosome in mammals [J].

Nguyen, DK ;

Disteche, CM .

NATURE GENETICS, 2006, 38 (01) :47-53

[33]

OGATA T, 1995, HUM GENET, V95, P607

[34] Relationship between the monosomy S phenotype and Y-linked ribosomal protein S4 (Rps4) in several species of mammals: A molecular evolutionary analysis of Rps4 homologs [J].

Omoe, K ;

Endo, A .

GENOMICS, 1996, 31 (01) :44-50

[35] Genotype, phenotype, and karyotype correlation in the XO mouse model of Turner Syndrome [J].

Probst, Frank J. ;

Cooper, Mitchell Lance ;

Cheung, Sau Wai ;

Justice, Monica J. .

JOURNAL OF HEREDITY, 2008, 99 (05) :512-517

[36] Growth hormone treatment of non-growth hormone-deficient growth disorders [J].

Quigley, Charmian A. .

ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA, 2007, 36 (01) :131-+

[37] Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome [J].

Rao, E ;

Weiss, B ;

Fukami, M ;

Rump, A ;

Niesler, B ;

Mertz, A ;

Muroya, K ;

Binder, G ;

Kirsch, S ;

Winkelmann, M ;

Nordsiek, G ;

Heinrich, U ;

Breuning, MH ;

Ranke, MB ;

Rosenthal, A ;

Ogata, T ;

Rappold, GA .

NATURE GENETICS, 1997, 16 (01) :54-63

[38] Cognition and the sex chromosomes: Studies in Turner syndrome [J].

Ross, J ;

Roeltgen, D ;

Zinn, A .

HORMONE RESEARCH, 2006, 65 (01) :47-56

[39] Phenotypes associated with SHOX deficiency [J].

Ross, JL ;

Scott, C ;

Marttila, P ;

Kowal, K ;

Nass, A ;

Papenhausen, P ;

Abboudi, J ;

Osterman, L ;

Kushner, H ;

Carter, P ;

Ezaki, M ;

Elder, F ;

Wei, FL ;

Chen, HQ ;

Zinn, AR .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (12) :5674-5680

[40] The DNA sequence of the human X chromosome [J].

Ross, MT ;

Grafham, DV ;

Coffey, AJ ;

Scherer, S ;

McLay, K ;

Muzny, D ;

Platzer, M ;

Howell, GR ;

Burrows, C ;

Bird, CP ;

Frankish, A ;

Lovell, FL ;

Howe, KL ;

Ashurst, JL ;

Fulton, RS ;

Sudbrak, R ;

Wen, GP ;

Jones, MC ;

Hurles, ME ;

Andrews, TD ;

Scott, CE ;

Searle, S ;

Ramser, J ;

Whittaker, A ;

Deadman, R ;

Carter, NP ;

Hunt, SE ;

Chen, R ;

Cree, A ;

Gunaratne, P ;

Havlak, P ;

Hodgson, A ;

Metzker, ML ;

Richards, S ;

Scott, G ;

Steffen, D ;

Sodergren, E ;

Wheeler, DA ;

Worley, KC ;

Ainscough, R ;

Ambrose, KD ;

Ansari-Lari, MA ;

Aradhya, S ;

Ashwell, RIS ;

Babbage, AK ;

Bagguley, CL ;

Ballabio, A ;

Banerjee, R ;

Barker, GE ;

Barlow, KF .

NATURE, 2005, 434 (7031) :325-337

← 1 2 3 4 5 6 →