High impact information on lds

• Prevalence is estimated to be as high as 1 in 10,000 (ref. 4). We carried out genome-wide linkage exclusion analysis in 12 families with CdLS and identified four candidate regions, of which chromosome 5p13.1 gave the highest multipoint lod score of 2 [1].
• Using a genome-wide screen in four JP kindreds without germline mutations in MADH4 or PTEN, we identified linkage with markers from chromosome 10q22-23 (maximum lod score of 4.74, straight theta=0.00) [2].
• Chromosome tangling and breakage at anaphase result from mutations in lodestar, a Drosophila gene encoding a putative nucleoside triphosphate-binding protein [3].
• Here we report the cloning, DNA sequence, genomic structure, ecdysone inducibility, and temporal expression of an early gene residing in the 23E early puff and denoted E23 (Early gene at 23) [4].
• E47 is a widely expressed transcription factor that activates B-cell-specific immunoglobulin gene transcription and is required for early B-cell development [5].

Biological context of lds

• The frequency of Horka-induced chromosome loss is usually 2-4% but varies with the genetic background and can be over 20% [6].
• Horka is a convenient tool for the generation of gynandromorphs, autosome mosaics and for the study of gene expression in mosaics [6].
• Genetic and cytological data show that Horka induces mostly equational nondisjunction during spermatogenesis but not chromosome loss and possesses a dominant paternal effect: the X, second, third and the fourth chromosomes, but not the Y, are rendered unstable while undergoing spermatogenesis and may be lost in the descending zygotes [6].
• Three myocyte enhancer factor-2 binding sites have been functionally characterized in each regulatory element [7].
• Transcription of Myocyte enhancer factor-2 in adult Drosophila myoblasts is induced by the steroid hormone ecdysone [8].

Anatomical context of lds

• This region contains a binding site for the Drosophila myocyte-specific enhancer binding factor 2 (D-MEF2), a MADS-box transcription factor known to be essential for mesoderm development [9].
• Rodent Early B-Cell Factor/Olfactory-1 and Drosophila Collier belong to a recently defined, novel family of transcription factors, the Collier/Olf1/EBF (COE) proteins which have a unique DNA-binding domain [10].
• Cytology of aberrations induced by x-rays in oocytes of Drosophila melanogaster. II. Early meiotic stages [11].

Associations of lds with chemical compounds

• We show here that the transcript release activity of factor 2 requires ATP or dATP and that adenosine 5'-O-(thiotriphosphate) (ATPgammaS), adenosine 5'-(beta,gamma-imino)triphosphate (AMP-PNP), or other NTPs do not support the activity [12].
• We combined these promoters with either a short, double poly-adenylation site derived from the Heliothis virescens p63 chaperonin gene, or with a fusion of the small t intron with the early 3' untranslated region and poly-adenylation sites of SV40 [13].
• Evidence for an Early Gene Duplication Event in the Evolution of the Mitochondrial Transcription Factor B Family and Maintenance of rRNA Methyltransferase Activity in Human mtTFB1 and mtTFB2 [14].

Other interactions of lds

• At 20 microg/ml DNA, the ATPase activity of factor 2 had an apparent Km(ATP) of 28 microM and an estimated Kcat of 140 min-1 [12].
• Although the properties of factor 2 suggested that it might have helicase activity, we were unable to detect any DNA unwinding activity associated with factor 2 [15].
• Col is an ortholog of mammalian early B-cell factor/Olfactory-1 [16].
• Involvement of EDTP, an Egg-Derived Tyrosine Phosphatase, in the Early Development of Drosophila melanogaster [17].
• Characterization and purification of Adh distal promoter factor 2, Adf-2, a cell-specific and promoter-specific repressor in Drosophila [18].

Analytical, diagnostic and therapeutic context of lds

• Gel mobility shift assays showed that factor 2 formed stable complexes with dsDNA or ssDNA in the absence of ATP [15].
• Some early elongation complexes were resistant to factor 2 action but became sensitive after treatment with 1 M KCl [19].

References