Mutations in the RNA Granule Component TDRD7 Cause Cataract and Glaucoma

被引：153

作者：

Lachke, Salil A. ^{[3
]}

Alkuraya, Fowzan S. ^{[3
,5
,6
,7
,8
]}

Kneeland, Stephen C. ^{[1
,2
]}

Ohn, Takbum ^{[9
]}

Aboukhalil, Anton ^{[3
,10
]}

Howell, Gareth R. ^{[1
,2
]}

Saadi, Irfan ^{[3
]}

Cavallesco, Resy ^{[3
]}

Yue, Yingzi ^{[3
]}

Tsai, Anne C-H. ^{[11
]}

Nair, K. Saidas ^{[1
,2
]}

Cosma, Mihai I. ^{[1
,2
,12
]}

Smith, Richard S. ^{[1
,2
]}

Hodges, Emily ^{[13
,14
]}

AlFadhli, Suad M. ^{[15
]}

Al-Hajeri, Amal ^{[15
]}

Shamseldin, Hanan E. ^{[5
]}

Behbehani, AbdulMutalib ^{[16
]}

Hannon, Gregory J. ^{[13
,14
]}

Bulyk, Martha L. ^{[3
,4
,17
]}

Drack, Arlene V. ^{[18
]}

Anderson, Paul J. ^{[9
]}

John, Simon W. M. ^{[1
,2
,19
]}

Maas, Richard L. ^{[3
]}

机构：

[1] Howard Hughes Med Inst, Bar Harbor, ME 04609 USA

[2] Jackson Lab, Bar Harbor, ME 04609 USA

[3] Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

[4] Harvard Univ, Sch Med, Harvard Massachusetts Inst Technol Div Hlth Sci &, Boston, MA 02115 USA

[5] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

[6] Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh 11533, Saudi Arabia

[7] King Saud Univ, Coll Med, Riyadh 11461, Saudi Arabia

[8] King Saud Univ, King Khalid Univ Hosp, Dept Pediat, Riyadh 11461, Saudi Arabia

[9] Brigham & Womens Hosp, Dept Med, Div Rheumatol Immunol & Allergy, Boston, MA 02115 USA

[10] MIT, Dept Aeronaut & Astronaut, Cambridge, MA 02139 USA

[11] Univ Colorado Denver, Dept Pediat, Aurora, CO 80045 USA

[12] Maine Med Ctr, Dept Med, Portland, ME 04102 USA

[13] Watson Sch Biol Sci, Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

[14] Cold Spring Harbor Lab, Howard Hughes Med Inst, Cold Spring Harbor, NY 11724 USA

[15] Kuwait Univ, Fac Allied Hlth Sci, Kuwait 13060, Kuwait

[16] Kuwait Univ, Fac Med, Dept Surg, Alsafat 13110, Kuwait

[17] Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA

[18] Univ Iowa, Dept Ophthalmol & Visual Sci, Iowa City, IA 52242 USA

[19] Tufts Univ, Sch Med, Dept Ophthalmol, Boston, MA 02115 USA

来源：

SCIENCE | 2011年 / 331卷 / 6024期

关键词：

CYTOPLASMIC PROCESSING BODIES; MAMMALIAN STRESS GRANULES; EUKARYOTIC MESSENGER-RNAS; MALE GERM-CELLS; P-BODIES; CHROMATOID BODY; TRANSLATION; PROTEINS; DECAY; LOCALIZATION;

D O I：

10.1126/science.1195970

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The precise transcriptional regulation of gene expression is essential for vertebrate development, but the role of posttranscriptional regulatory mechanisms is less clear. Cytoplasmic RNA granules (RGs) function in the posttranscriptional control of gene expression, but the extent of RG involvement in organogenesis is unknown. We describe two human cases of pediatric cataract with loss-of-function mutations in TDRD7 and demonstrate that Tdrd7 nullizygosity in mouse causes cataracts, as well as glaucoma and an arrest in spermatogenesis. TDRD7 is a Tudor domain RNA binding protein that is expressed in lens fiber cells in distinct TDRD7-RGs that interact with STAU1-ribonucleoproteins (RNPs). TDRD7 coimmunoprecipitates with specific lens messenger RNAs (mRNAs) and is required for the posttranscriptional control of mRNAs that are critical to normal lens development and to RG function. These findings demonstrate a role for RGs in vertebrate organogenesis.

引用

页码：1571 / 1576

页数：6

共 37 条

[1] A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans [J].

Achermann, JC ;

Ito, M ;

Hindmarsh, PC ;

Jameson, JL .

NATURE GENETICS, 1999, 22 (02) :125-126

[2] Homozygosity mapping: One more tool in the clinical geneticist's toolbox [J].

Alkuraya, Fowzan S. .

GENETICS IN MEDICINE, 2010, 12 (04) :236-239

[3] OST-HTH: a novel predicted RNA-binding domain [J].

Anantharaman, Vivek ;

Zhang, Dapeng ;

Aravind, L. .

BIOLOGY DIRECT, 2010, 5

[4] RNA granules: post-transcriptional and epigenetic modulators of gene expression [J].

Anderson, Paul ;

Kedersha, Nancy .

NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2009, 10 (06) :430-436

[5] Staufen- and FMRP-containing neuronal RNPs are structurally and functionally related to somatic P bodies [J].

Barbee, Scott A. ;

Estes, Patricia S. ;

Cziko, Anne-Marie ;

Hillebrand, Jens ;

Luedeman, Rene A. ;

Coller, Jeff M. ;

Johnson, Nick ;

Howlett, Iris C. ;

Geng, Cuiyun ;

Ueda, Ryu ;

Brand, Andrea H. ;

Newbury, Sarah F. ;

Wilhelm, James E. ;

Levine, Richard B. ;

Nakamura, Akira ;

Parker, Roy ;

Ramaswami, Mani .

NEURON, 2006, 52 (06) :997-1009

[6] Movement of eukaryotic mRNAs between polysomes and cytoplasmic processing bodies [J].

Brengues, M ;

Teixeira, D ;

Parker, R .

SCIENCE, 2005, 310 (5747) :486-489

[7] Eukaryotic Stress Granules: The Ins and Outs of Translation [J].

Buchan, J. Ross ;

Parker, Roy .

MOLECULAR CELL, 2009, 36 (06) :932-941

[8] P bodies: at the crossroads of post-transcriptional pathways [J].

Eulalio, Ana ;

Behm-Ansmant, Isabelle ;

Izaurralde, Elisa .

NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2007, 8 (01) :9-22

[9] Enhanced stability of αB-crystallin in the presence of small heat shock protein Hsp27 [J].

Fu, L ;

Liang, JJN .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2003, 302 (04) :710-714

[10] Detection of protein-protein interactions among lens crystallins in a mammalian two-hybrid system assay [J].

Fu, L ;

Liang, JJN .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2002, 277 (06) :4255-4260

← 1 2 3 4 →