title: Basonuclin 2 has a function in the multiplication of embryonic craniofacial mesenchymal cells and is orthologous to disco proteins.
abstract: Basonuclin 2 is a recently discovered zinc finger protein of unknown function. Its paralog, basonuclin 1, is associated with the ability of keratinocytes to multiply. The basonuclin zinc fingers are closely related to those of the Drosophila proteins disco and discorelated, but the relation between disco proteins and basonuclins has remained elusive because the function of the disco proteins in larval head development seems to have no relation to that of basonuclin 1 and because the amino acid sequence of disco, apart from the zinc fingers, also has no similarity to that of the basonuclins. We have generated mice lacking basonuclin 2. These mice die within 24 h of birth with a cleft palate and abnormalities of craniofacial bones and tongue. In the embryonic head, expression of the basonuclin 2 gene is restricted to mesenchymal cells in the palate, at the periphery of the tongue, and in the mesenchymal sheaths that surround the brain and the osteocartilagineous structures. In late embryos, the rate of multiplication of these mesenchymal cells is greatly diminished. Therefore, basonuclin 2 is essential for the multiplication of craniofacial mesenchymal cells during embryogenesis. Non-Drosophila insect databases available since 2008 reveal that the basonuclins and the disco proteins share much more extensive sequence and gene structure similarity than noted when only Drosophila sequences were examined. We conclude that basonuclin 2 is both structurally and functionally the vertebrate ortholog of the disco proteins. We also note the possibility that some human craniofacial abnormalities are due to a lack of basonuclin 2.
authors.affiliation: Unité Propre de Recherche 2228 du Centre National de la Recherche Scientifique, Université Paris Descartes, 75006 Paris, France.
authors.forename: Amandine
authors.initials: A
authors.lastname: Vanhoutteghem
authors.forename: Anna
authors.initials: A
authors.lastname: Maciejewski-Duval
authors.forename: Cyril
authors.initials: C
authors.lastname: Bouche
authors.forename: Brigitte
authors.initials: B
authors.lastname: Delhomme
authors.forename: Françoise
authors.initials: F
authors.lastname: Hervé
authors.forename: Fabrice
authors.initials: F
authors.lastname: Daubigney
authors.forename: Guillaume
authors.initials: G
authors.lastname: Soubigou
authors.forename: Masatake
authors.initials: M
authors.lastname: Araki
authors.forename: Kimi
authors.initials: K
authors.lastname: Araki
authors.forename: Ken-ichi
authors.initials: K
authors.lastname: Yamamura
authors.forename: Philippe
authors.initials: P
authors.lastname: Djian
mesh_terms: D000818:Animals; D000831:Animals, Newborn; D015152:Blotting, Northern; D002460:Cell Line; D049109:Cell Proliferation; D002972:Cleft Palate / Q000196:embryology / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism / Q000502:physiology*; D029721:Drosophila Proteins / Q000235:genetics / Q000378:metabolism; D004622:Embryo, Mammalian / Q000166:cytology / Q000196:embryology / Q000378:metabolism; D005260:Female; D019084:Fluorescent Antibody Technique, Indirect; D018507:Gene Expression Regulation, Developmental; D008297:Male; D059630:Mesenchymal Stem Cells / Q000166:cytology* / Q000378:metabolism; D051379:Mice; D018345:Mice, Knockout; D020411:Oligonucleotide Array Sequence Analysis; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012886:Skull / Q000166:cytology / Q000196:embryology / Q000378:metabolism; D014059:Tongue / Q000002:abnormalities / Q000378:metabolism; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism; D016335:Zinc Fingers
chemical_list: D004268:DNA-Binding Proteins; D029721:Drosophila Proteins; D012333:RNA, Messenger; D014157:Transcription Factors; C484528:basonuclin 2, mouse; C400212:disco protein, Drosophila
references.citation: J Cell Biol. 1994 Jul;126(2):495-506
references.pmid: 8034748
references.citation: J Biol Chem. 1999 Sep 3;274(36):25543-9
references.pmid: 10464286
references.citation: Nucleic Acids Res. 1991 Aug 11;19(15):4293
references.pmid: 1870982
references.citation: Proc Natl Acad Sci U S A. 1996 Aug 6;93(16):8479-84
references.pmid: 8710895
references.citation: J Virol. 1989 May;63(5):1924-8
references.pmid: 2704070
references.citation: Nature. 2008 Apr 24;452(7190):949-55
references.pmid: 18362917
references.citation: Genomics. 2004 May;83(5):821-33
references.pmid: 15081112
references.citation: Am J Med Genet A. 2006 Feb 15;140(4):373-7
references.pmid: 16419130
references.citation: Eur J Biochem. 1978 Mar;84(1):1-15
references.pmid: 206429
references.citation: EMBO J. 1991 Apr;10(4):817-26
references.pmid: 1901263
references.citation: BMC Evol Biol. 2006 Jan 25;6:7
references.pmid: 16436210
references.citation: Dev Biol. 2007 Jan 15;301(2):309-26
references.pmid: 16942766
references.citation: Dev Biol. 2007 Sep 1;309(1):56-69
references.pmid: 17643406
references.citation: Cell. 1988 Aug 12;54(4):491-6
references.pmid: 3401924
references.citation: Development. 2006 May;133(10):2053-62
references.pmid: 16624857
references.citation: Biochem Biophys Res Commun. 2006 Oct 6;348(4):1261-71
references.pmid: 16919236
references.citation: Development. 2004 Jun;131(12):2781-9
references.pmid: 15142974
references.citation: Development. 2004 Oct;131(19):4637-50
references.pmid: 15358668
references.citation: Proc Natl Acad Sci U S A. 1999 Aug 17;96(17):9628-32
references.pmid: 10449744
references.citation: Genetics. 2001 Jan;157(1):225-36
references.pmid: 11139504
references.citation: Development. 1999 Jul;126(13):2993-3003
references.pmid: 10357942
references.citation: Proc Natl Acad Sci U S A. 2006 Aug 15;103(33):12423-8
references.pmid: 16891417
references.citation: Proc Natl Acad Sci U S A. 1992 Nov 1;89(21):10311-5
references.pmid: 1332044
references.citation: J Cell Biol. 1997 May 5;137(3):657-69
references.pmid: 9151672
references.citation: Am J Med Genet. 1998 May 26;77(4):268-71
references.pmid: 9600733
references.citation: Development. 2001 Feb;128(3):407-16
references.pmid: 11152639
references.citation: Cell. 1987 Sep 25;50(7):1139-53
references.pmid: 3113740
references.citation: Proc Natl Acad Sci U S A. 2004 Mar 9;101(10):3468-73
references.pmid: 14988505
references.citation: Dev Growth Differ. 2005 Apr;47(3):163-72
references.pmid: 15840001
references.citation: Genomics. 2007 Jan;89(1):44-58
references.pmid: 16942855
references.citation: PLoS One. 2007 Oct 31;2(10):e1087
references.pmid: 17971852