Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/44569
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Type: Journal article
Title: Protein and gene expression analysis of Phf6, the gene mutated in the Borjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity
Author: Voss, A.
Gamble, R.
Collin, C.
Shoubridge, C.
Corbett, M.
Gecz, J.
Thomas, T.
Citation: Gene Expression Patterns, 2007; 7(8):858-871
Publisher: Elsevier BP
Issue Date: 2007
ISSN: 1567-133X
1872-7298
Statement of
Responsibility: 
Anne K. Voss, Robin Gamble, Caitlin Collin, Cheryl Shoubridge, Mark Corbett, Jozef Gécz and Tim Thomas
Abstract: The Plant homeodomain finger gene 6 (PHF6) was identified as the gene mutated in patients suffering from the Börjeson-Forssman-Lehmann Syndrome (BFLS), an X-linked mental retardation disorder. BFLS mental disability is evident from an early age, suggesting a developmental brain defect. The PHF6 protein contains four nuclear localisation signals and two imperfect plant homeodomain (PHD) fingers similar to the third, imperfect PHD fingers in members of the trithorax family of transcriptional regulators. The PHF6 gene is highly conserved in vertebrate species. Despite the devastating effects of mutation of the PHF6 gene, nothing is known about the cellular function of PHF6. In order to lay the base for functional studies, we identify here the cell types that express the murine Phf6 gene and protein during prenatal and postnatal development. The Phf6 gene and protein are expressed widely. However, expression levels vary from strong to barely detectable. Strongest Phf6 gene expression and nuclear localisation of Phf6 protein were observed in the developing central nervous system, the anterior pituitary gland, the primordia of facial structures and the limb buds. Expression levels of both mRNA and protein decline over the course of development. In the adult brain moderate Phf6 expression is maintained in projection neurons, such as mitral cells in the olfactory bulb, cerebrocortical pyramidal cells and cerebellar Purkinje cells. Phf6 gene expression and nuclear localisation of Phf6 protein correlate with clinical symptoms in BFLS patients, namely mental disability, pan-anterior pituitary hormonal deficiency and facial as well digit abnormalities.
Keywords: Cell Line; Cell Nucleus; Animals; Humans; Mice; Mice, Mutant Strains; Mental Retardation, X-Linked; Obesity; Syndrome; Homeodomain Proteins; Green Fluorescent Proteins; RNA, Messenger; Gene Expression; Amino Acid Sequence; Conserved Sequence; Tissue Distribution; Mutation; Molecular Sequence Data
Description: Copyright © 2007 Elsevier B.V. All rights reserved.
RMID: 0020073715
DOI: 10.1016/j.modgep.2007.06.007
Description (link): http://www.elsevier.com/wps/find/journaldescription.cws_home/628039/description#description
Appears in Collections:Molecular and Biomedical Science publications

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