Evolution and expression of FOXL2 [1]

Journal of Medical Genetics

Volumn 39, Issue 12, 2002, Pages 916-921

  Cocquet, J ^a   Pailhoux, E ^b   Jaubert, F ^c   Servel, N ^b   Xia, X ^d   Pannetier, M ^b   De Baere, E ^e   Messiaen, L ^e   Cotinot, C ^b   Fellous, M ^a   Veitia, R A ^a,f  

^a INSTITUT PASTEUR   (France)

^b CEMAGREF   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d HKU PASTEUR RESEARCH CENTRE   (Hong Kong)

^e GHENT UNIVERSITY HOSPITAL   (Belgium)

^f Pavillon Baudelocque ^*  (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN FOXL2; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

BLEPHAROPHIMOSIS; EPICANTHUS; EPICANTHUS INVERSUS; EYELID DISEASE; FOXL2 GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; LETTER; MOLECULAR EVOLUTION; NUCLEOTIDE SEQUENCE; PREDICTION; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PTOSIS; SEQUENCE ANALYSIS;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; ANIMALS; CELL DIFFERENTIATION; CONSERVED SEQUENCE; DNA-BINDING PROTEINS; EVOLUTION, MOLECULAR; EYELIDS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GOATS; HUMANS; IMMUNOHISTOCHEMISTRY; MICE; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; OPEN READING FRAMES; OVARIAN FAILURE, PREMATURE; OVARY; PEPTIDES; RNA, MESSENGER; SEQUENCE ALIGNMENT; SEX CHARACTERISTICS; SYNDROME; TETRAODONTIFORMES; TRANSCRIPTION FACTORS;

EID: 0036913692     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (16)

1. Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, Ristaldi MS, Marzella R, Rocchi M, Nicolino M, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D, Gasparini P, Bonneau D, Cao A, Pilia G. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet 2001;27:159-66.
2. Zlotogora J, Sagi M, Cohen T. The blepharophimosis, ptosis, and epicanthus inversus syndrome: Delineation of two types. Am J Hum Genet 1983;35:1020-7.
3. De Baere E, Lemercier B, Christin-Maitre S, Durval D, Messiaen L, Goderis N, Fellous M, Veitia R. FOXL2 mutation screening in a large panel of POF patients and XX males. J Med Genet 2002;39:e43.
4. Kaufmann E, Knochel W. Five years on the wings of forkhead. Mech Dev 1996;57:3-20.
5. Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP. A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 2001;413:519-23.
6. De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation. Hum Mol Genet 2001;10:1591-600.
7. De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, Devriendt K, Dixon M, Fellous M, Fryns JP, Garza A, Jonsrud C, Koivisto P, Krause A, Leroy B, Meire F, Plomp A, Van Maldergem L, De Paepe A, Veitia R, Messiaen L. FOXL2 and BPES: Mutational hotspots, phenotypic variability and revision of the genotype-phenotype correlation. Am J Hum Genet (in press).
8. Voss H, Schwager C, Wiemann S, Zimmermann J, Stegemann J, Erfle H, Voie AM, Drzonek H, Ansorge W. Efficient low redundancy large-scale DNA sequencing at EMBL. J Biotechnol 1995;41:121-9.
9. Li W-H. Unbiased estimation of the rates of synonymous and nonsynonymous substitution. J Mol Evol 1993;36:96-9.
10. Xia X, Xie Z. DAMBE: Data Analysis in Molecular Biology and Evolution. J Hered 2001;92:371-3.
11. Kimura M. A simple method for estimating evolutionary rates of base substitutions through comparative studies of nucleotide sequences. J Mol Evol 1980;16:111-20.
12. Yang Z, Bielawski JP. Statistical methods for detecting molecular adaptation. Tree 2000;15:496-503.
13. Xia X, Xie Z. Protein structure, neighbour effect, and a new index of amino acid dissimilarities. Mol Biol Evol 2002;19:58-67.
14. Calado A, Tome FM, Brais B, Rouleau GA, Kuhn U, Wahle E, Carmo-Fonseca M. Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. Hum Mol Genet 2000;9:2321-8.
15. Pailhoux E, Vigier B, Chaffaux S, Servel N, Taourit S, Furet JP, Fellous M, Grosclaude F, Cribiu EP, Cotinot C, Vaiman D. A 11.7-kb deletion triggers intersexuality and polledness in goats. Nat Genet 2001;29:453-8.
16. Pailhoux E, Vigier B, Vaiman D, Servel N, Chaffaux S, Cribiu EP, Cotinot C. Ontogenesis of female-to-male sex-reversal in XX polled goats. Dev Dyn 2002;224:39-50.