TLE6 mutation causes the earliest known human embryonic lethality

Genome Biology

Volumn 16, Issue 1, 2015, Pages

  Alazami, Anas M ^a   Awad, Salma M ^a   Coskun, Serdar ^b   Al Hassan, Saad ^a   Hijazi, Hadia ^a   Abdulwahab, Firdous M ^a   Poizat, Coralie ^a   Alkuraya, Fowzan S ^a,c  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Embryonic lethal; Infertility; Mendelian; Subcortical maternal complex

Indexed keywords

ADULT; ARTICLE; BINDING KINETICS; CASE REPORT; CONTROLLED STUDY; EMBRYO; EMBRYO DEATH; FEMALE; FEMALE INFERTILITY; FERTILIZATION IN VITRO; GENE INTERACTION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; IN VITRO STUDY; LETHAL GENE; MEIOSIS; OOCYTE; PHENOTYPE; PROTEIN PHOSPHORYLATION; SAUDI; TLE6 GENE; ANIMAL; CONSANGUINITY; EMBRYO DEVELOPMENT; GENE EXPRESSION REGULATION; GENETIC LINKAGE; GENETICS; GROWTH, DEVELOPMENT AND AGING; IN VITRO FERTILIZATION; MALE; MOUSE; MUTATION; PATHOLOGY; SAUDI ARABIA;

TLE6 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADULT; ANIMALS; CONSANGUINITY; EMBRYONIC DEVELOPMENT; FEMALE; FERTILIZATION IN VITRO; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES, LETHAL; GENETIC LINKAGE; HUMANS; INFERTILITY, FEMALE; MALE; MEIOSIS; MICE; MUTATION; OOCYTES; PHENOTYPE; SAUDI ARABIA; TRANSCRIPTION FACTORS;

EID: 84946399778     PISSN: 14747596     EISSN: 1474760X     Source Type: Journal    
DOI: 10.1186/s13059-015-0792-0     Document Type: Article

References (28)

1. Alkuraya FS. Human knockout research: new horizons and opportunities. Trends Genet. 2015;31:108-15.
2. Shaheen R, Faqeih E, Shamseldin HE, Noche RR, Sunker A, Alshammari MJ, et al. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. Am J Hum Genet. 2012;91:330-6.
3. Shamseldin HE, Tulbah M, Kurdi W, Nemer M, Alsahan N, Al Mardawi E, et al. Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families. Genome Biol. 2015;16:116.
4. Khalak HG, Wakil SM, Imtiaz F, Ramzan K, Baz B, Almostafa A, et al. Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity. Genet Med. 2012;14:515-9.
5. Ayadi A, Birling M-C, Bottomley J, Bussell J, Fuchs H, Fray M, et al. Mouse large-scale phenotyping initiatives: Overview of the European mouse disease clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project. Mamm Genome. 2012;23:600-10.
6. Giaever G, Chu AM, Ni L, Connelly C, Riles L, Véronneau S, et al. Functional profiling of the Saccharomyces cerevisiae genome. Nature. 2002;418:387-91.
7. Alkuraya FS. Discovery of rare homozygous mutations from studies of consanguineous pedigrees. Curr Protoc Hum Genet. 2012;6:6.12.
8. Alkuraya FS. Autozygome decoded. Genet Med. 2010;12:765-71.
9. Alkuraya FS. The application of next-generation sequencing in the autozygosity mapping of human recessive diseases. Hum Genet. 2013;132:1197-211.
10. Carr IM, Flintoff KJ, Taylor GR, Markham AF, Bonthron DT. Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families. Hum Mutat. 2006;27:1041.
11. Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, et al. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015;10:148-61.
12. Lindner TH, Hoffmann K. easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses. Bioinformatics. 2005;21:405-7.
13. http://genome.ucsc.edu/
14. http://bio-bwa.sourceforge.net/
15. http://samtools.sourceforge.net/
16. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25:1754-60.
17. Awad S, Al-Dosari MS, Al-Yacoub N, Colak D, Salih MA, Alkuraya FS, et al. Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. Hum Mol Genet. 2013;22:2200-13.
18. Duncan FE, Padilla-Banks E, Bernhardt ML, Ord TS, Jefferson WN, Moss SB, et al. Transducin-like enhancer of split-6 (TLE6) is a substrate of protein kinase A activity during mouse oocyte maturation 1. Biol Reprod. 2014;90:63.
19. Kinoshita E, Kinoshita-Kikuta E, Takiyama K, Koike T. Phosphate-binding tag, a new tool to visualize phosphorylated proteins. Mol Cell Proteomics. 2006;5:749-57.
20. Zhu K, Yan L, Zhang X, Lu X, Wang T, Yan J, et al. Identification of a human subcortical maternal complex. Mol Hum Reprod. 2015;21:320-9.
21. Li L, Zheng P, Dean J. Maternal control of early mouse development. Development. 2010;137:859-70.
22. Li L, Baibakov B, Dean J. A subcortical maternal complex essential for preimplantation mouse embryogenesis. Dev Cell. 2008;15:416-25.
23. Yu XJ, Yi Z, Gao Z, Qin D, Zhai Y, Chen X, et al. The subcortical maternal complex controls symmetric division of mouse zygotes by regulating F-actin dynamics. Nat Commun. 2014;5:4887.
24. Bebbere D, Ariu F, Bogliolo L, Masala L, Murrone O, Fattorini M, et al. Expression of maternally derived KHDC3, NLRP5, OOEP and TLE6 is associated with oocyte developmental competence in the ovine species. BMC Dev Biol. 2014;14:40.
25. Bianchi E, Doe B, Goulding D, Wright GJ. Juno is the egg Izumo receptor and is essential for mammalian fertilization. Nature. 2014;508:483-7.
26. Tong Z-B, Bondy CA, Zhou J, Nelson LM. A human homologue of mouse Mater, a maternal effect gene essential for early embryonic development. Hum Reprod. 2002;17:903-11.
27. Zheng P, Dean J. Role of Filia, a maternal effect gene, in maintaining euploidy during cleavage-stage mouse embryogenesis. Proc Natl Acad Sci. 2009;106:7473-8.
28. http://www-archbac.u-psud.fr/genomics/multalin.html