Integrin αE (CD103) is induced but plays no pathogenic role in psoriasiform skin lesions of TGFβ1 transgenic mice.

T-cells expressing αE (CD103), an integrin induced by TGFβ on T-cells in vitro, accumulate within epithelia in inflammatory disorders, including psoriasis. However, it is unclear, if and how αE (CD103) contributes to skin inflammation. Using two complementary approaches, we have investigated αE (CD103) in psoriasis-like skin inflammation of mice with transgenic epidermal expression of human TGFβ1: αE (CD103) was inhibited by function-blocking antibodies in vivo, and double-mutants with additional αE (CD103)-depletion were generated in two different genetic backgrounds.

C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development.

In order to identify novel genes involved in mental retardation/intellectual disability, we focused on a microdeletion reported in a patient with a mild form of Wolf-Hirschhorn syndrome. This patient presented with attention-deficit hyperactivity disorder, some learning and fine motor deficits as well as facial abnormalities. The deleted region included three genes.

Integrin alpha E(CD103)beta 7 influences cellular shape and motility in a ligand-dependent fashion.

While the extravasation cascade of lymphocytes is well characterized, data on their intraepithelial positioning and morphology are scant. However, the latter process is presumably crucial for many immune functions. Integrin alpha(E)(CD103)beta(7) has previously been implicated in epithelial retention of some T cells through binding to E-cadherin.

Impaired induction of adhesion molecule expression in immortalized endothelial cells leads to functional defects in dynamic interactions with lymphocytes.

Immortalization should overcome the problem of short lifespan and difficult culture of endothelial cells that limited their use in functional studies. We used four different immortalized endothelial cell lines to study dynamic interactions with lymphocytes. Surprisingly, tumor necrosis factor (TNF)alpha-stimulated human umbilical vein endothelial cells (HUVECs) or human dermal microvascular endothelial cells (HDMECs) readily supported rolling and binding of lymphocytes, whereas none of the immortalized cell lines did.

LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein.

The leucine zipper-, EF-hand-containing transmembrane protein 1 (LETM1) has recently been cloned in an attempt to identify genes deleted in Wolf-Hirschhorn syndrome (WHS), a microdeletion syndrome characterized by severe growth and mental retardation, hypotonia, seizures, and typical facial dysmorphic features. LETM1 is deleted in almost all patients with the full phenotype and has recently been suggested as an excellent candidate gene for the seizures in WHS patients. We have shown that LETM1 is evolutionarily conserved throughout the eukaryotic kingdom and exhibits homology to MDM38, a putative yeast protein involved in mitochondrial morphology.

Identification and characterization of murine Brunol4, a new member of the elav/bruno family.

RNA-binding proteins are involved in post-transcriptional processes like mRNA stabilization, post-transcriptional modification, and transport and have been suggested to play an important role in developmental gene regulation. We report here the cloning and characterization of Brunol4, a novel mouse cDNA closely related to the elav-type family of genes encoding for RNA-binding proteins and a subfamily recently named after the bruno gene of Drosophila. Murine Brunol4 is localized near the centromere of chromosome 18.