Mutations in eif4enif1 are associated with primary ovarian insufficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 9, 2013, Pages

  Kasippillai, Thushiga ^a,b   MacArthur, Daniel G ^a,c,d   Kirby, Andrew ^a   Thomas, Brett ^a   Lambalk, Cornelius B ^b   Daly, Mark J ^a,c   Welt, Corrine K ^a,c  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c HARVARD MEDICAL SCHOOL   (United States)

^d MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA; EUKARYOTIC TRANSLATION INITIATION FACTOR 4E NUCLEAR IMPORT FACTOR 1; INITIATION FACTOR 4E; MESSENGER RNA; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EXON; FAMILY; FEMALE; GENE SEQUENCE; GENOTYPE; HETEROZYGOSITY; HUMAN; MENOPAUSE; NONSENSE MUTATION; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; PROTEIN FUNCTION; RNA ANALYSIS; STOP CODON;

ADULT; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MENOPAUSE, PREMATURE; MIDDLE AGED; MUTATION; NUCLEOCYTOPLASMIC TRANSPORT PROTEINS; PEDIGREE; PRIMARY OVARIAN INSUFFICIENCY;

EID: 84883689442     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-1102     Document Type: Article

References (22)

1. Nelson LM. Clinical practice. Primary ovarian insufficiency.NEngl J Med. 2009;360:606-614.
2. Welt CK. Primary ovarian insufficiency: a more accurate term for premature ovarian failure. Clin Endocrinol (Oxf). 2007;68:499-509.
3. Dostie J, Ferraiuolo M, Pause A, Adam SA, Sonenberg N. A novel shuttling protein, 4E-T, mediates the nuclear import of the mRNA 5 cap-binding protein, eIF4E. EMBO J. 2000;19:3142-3156.
4. Ferraiuolo MA, Basak S, Dostie J, Murray EL, Schoenberg DR, Sonenberg N. A role for the eIF4E-binding protein 4E-T in P-body formation and mRNA decay. J Cell Biol. 2005;170:913-924.
5. Villaescusa JC, Allard P, Carminati E, et al. Clast4, the murine homologue of human eIF4E-transporter, is highly expressed in developing oocytes and post-translationally modified at meiotic maturation. Gene. 2006;367:101-109.
6. Neale BM, Kou Y, Liu L, et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012;485:242-245.
7. DePristo MA, Banks E, Poplin R, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 2011;43:491-498.
8. Li H, Durbin R. Fast and accurate long-read alignment with Burrows- Wheeler transform. Bioinformatics. 2010;26:589-595.
9. McKenna A, Hanna M, Banks E, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20:1297-1303.
10. National Heart, Lung, and Blood Institute GO Exome Sequencing Project (ESP). 2012. http://evs.gs.washington.edu/EVS/. Seattle, WA. Accessed October 2012.
11. Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491: 56-65.
12. Styrkarsdottir U, Thorleifsson G, Sulem P, et al. Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits. Nature. 2013;497:517-520.
13. Mamane Y, Petroulakis E, Rong L, Yoshida K, Ler LW, Sonenberg N. eIF4E-from translation to transformation. Oncogene. 2004; 23:3172-3179.
14. Andrei MA, Ingelfinger D, Heintzmann R, Achsel T, Rivera-Pomar R, Luhrmann R. A role for eIF4E and eIF4E-transporter in targeting mRNPs to mammalian processing bodies.RNA. 2005;11:717-727.
15. Sullivan SD, Welt C, Sherman S. FMR1 and the continuum of primary ovarian insufficiency. Semin Reprod Med. 2011;29:299-307.
16. Lazaris-Karatzas A, Montine KS, Sonenberg N. Malignant transformation by a eukaryotic initiation factor subunit that binds to mRNA 5 cap. Nature. 1990;345:544-547.
17. Zappavigna V, Piccioni F, Villaescusa JC, Verrotti AC. Cup is a nucleocytoplasmic shuttling protein that interacts with the eukaryotic translation initiation factor 4E to modulate Drosophila ovary development. Proc Natl Acad Sci USA. 2004;101:14800-14805.
18. Keyes LN, Spradling AC. The Drosophila gene fs(2)cup interacts with otu to define a cytoplasmic pathway required for the structure and function of germ-line chromosomes. Development. 1997;124: 1419-1431.
19. Dostie J, Lejbkowicz F, Sonenberg N. Nuclear eukaryotic initiation factor 4E (eIF4E) colocalizes with splicing factors in speckles. J Cell Biol. 2000;148:239-247.
20. Wilusz CJ, Wang W, Peltz SW. Curbing the nonsense: the activation and regulation of mRNA surveillance. Genes Dev. 2001;15:2781-2785.
21. Fogli A, Rodriguez D, Eymard-Pierre E, et al. Ovarian failure related to eukaryotic initiation factor 2B mutations. Am J Hum Genet. 2003;72:1544-1550.
22. Hernandez G, Han H, Gandin V, et al. Eukaryotic initiation factor 4E-3 is essential for meiotic chromosome segregation, cytokinesis and male fertility in Drosophila. Development. 2012;139:3211-3220.