title: XLMR candidate mouse gene, Zcchc12 (Sizn1) is a novel marker of Cajal-Retzius cells.
abstract: Sizn1 (Zcchc12) is a transcriptional co-activator that positively modulates bone morphogenic protein (BMP) signaling through its interaction with Smad family members and CBP. We have demonstrated a role for Sizn1 in basal forebrain cholinergic neuron specific gene expression. Furthermore, mutations in SIZN1 have been associated with X-linked mental retardation. Given the defined role of SIZN1 in mental retardation, knowing its complete forebrain expression pattern is essential to further elucidating its role in cognition. To better define the dynamic expression pattern of Sizn1 during forebrain development, we investigated its expression in mouse brain development from embryonic day 8.0 (E8.0) to adult. We found that Sizn1 is primarily restricted to the ventral forebrain including the medial ganglionic eminence, the septum, amygdala, and striatum. In addition, Sizn1 expression is detected in the cortical hem and pallial-subpallial boundary (PSB; anti-hem); both sources of Cajal-Retzius cells. Sizn1 expression in the dorsal forebrain is restricted to a subset of cells in the marginal zone that also express Reln, indicative of Cajal-Retzius cells. These data provide novel information on brain regions and cell types that express Sizn1, facilitating further investigations into the function of Sizn1 in both development and the pathogenesis of mental retardation.
authors.affiliation: Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
authors.forename: Ginam
authors.initials: G
authors.lastname: Cho
authors.forename: Youngshin
authors.initials: Y
authors.lastname: Lim
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Golden
mesh_terms: D000818:Animals; D015816:Cell Adhesion Molecules, Neuronal / Q000378:metabolism; D002467:Cell Nucleus / Q000378:metabolism; D016326:Extracellular Matrix Proteins / Q000378:metabolism; D005260:Female; D018507:Gene Expression Regulation, Developmental; D005819:Genetic Markers; D005854:Germ Cells / Q000378:metabolism; D006801:Humans; D017403:In Situ Hybridization; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics; D051379:Mice; D009419:Nerve Tissue Proteins / Q000378:metabolism; D009928:Organ Specificity; D010641:Phenotype; D054240:Primitive Streak / Q000166:cytology; D016548:Prosencephalon / Q000166:cytology / Q000196:embryology / Q000378:metabolism*; D000091042:Reelin Protein; D012249:Rhombencephalon / Q000196:embryology / Q000378:metabolism; D012697:Serine Endopeptidases / Q000378:metabolism; D013737:Testis / Q000196:embryology / Q000378:metabolism; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism*
chemical_list: D015816:Cell Adhesion Molecules, Neuronal; D016326:Extracellular Matrix Proteins; D005819:Genetic Markers; D009419:Nerve Tissue Proteins; D000091042:Reelin Protein; C527302:Sizn1 protein, mouse; D014157:Transcription Factors; C000717127:RELN protein, human; C000717128:Reln protein, mouse; D012697:Serine Endopeptidases