Molecular cytogenetic characterization of a familial pericentric inversion 3 associated with short stature.

Short stature refers to the height of an individual which is below expected. The causes are heterogenous and influenced by several genetic and environmental factors. Chromosomal abnormalities are a major cause of diseases and cytogenetic mapping is one of the powerful tools for the identification of novel disease genes.

Early steps in autophagy depend on direct phosphorylation of Atg9 by the Atg1 kinase.

Bulk degradation of cytoplasmic material is mediated by a highly conserved intracellular trafficking pathway termed autophagy. This pathway is characterized by the formation of double-membrane vesicles termed autophagosomes engulfing the substrate and transporting it to the vacuole/lysosome for breakdown and recycling. The Atg1/ULK1 kinase is essential for this process; however, little is known about its targets and the means by which it controls autophagy.

Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome.

Marinesco-Sjögren syndrome (MSS; MIM 248800) is an autosomal recessive disorder characterized by congenital cerebellar ataxia, early cataracts, developmental delay, myopathy and short stature. Alterations in the gene SIL1 cause MSS in some patients with typical findings. In this study, molecular investigations including sequencing of the SIL1 gene, western blotting and microscopic investigations in fibroblast cultures were carried out in a cohort of 15 patients from 14 unrelated families, including the large, inbred family reported by Superneau et al.

Binding of the Atg1/ULK1 kinase to the ubiquitin-like protein Atg8 regulates autophagy.

Autophagy is an intracellular trafficking pathway sequestering cytoplasm and delivering excess and damaged cargo to the vacuole for degradation. The Atg1/ULK1 kinase is an essential component of the core autophagy machinery possibly activated by binding to Atg13 upon starvation. Indeed, we found that Atg13 directly binds Atg1, and specific Atg13 mutations abolishing this interaction interfere with Atg1 function in vivo.

The 9p24.3 breakpoint of a constitutional t(6;9)(p12;p24) in a patient with chronic lymphocytic leukemia maps close to the putative promoter region of the DMRT2 gene.

B-cell chronic lymphocytic leukemia (B-CLL) is a very common hematological malignancy. Although several alterations in different loci have been identified and established as prognostic factors the pathogenetic cascade remains obscure. Here we give an account on a 71-year-old man with B-CLL and a translocation t(6;9) in his diagnostic bone marrow.