ABSTRACT
While generating bcl2 alpha transgenic mice, we found some F2 offspring of one of the transgenic lines which were very small and had closed eyes at the time of weaning. These pups died within 1 month after birth. In order to determine the molecular basis of this phenotype, we screened a genomic library of the above transgenic line with a transgene-specific probe and found that the Bmp7 gene, a member of the TGF beta superfamily, was inactivated by insertional mutagenesis due to transgene integration. The Bmp7 homozygous null condition in mice is a postnatal lethal mutation and is associated with various developmental defects: holes in the basisphenoid bone and the xyphoid cartilage, retarded ossification of bones, fused ribs and vertebrae, underdeveloped neural arches of the lumbar and sacral vertebrae, polydactyly of the hind limbs, a kinked tail, a reduced number of nephrons, polycystic kidney, lack of retinal pigmentation, and retarded lens development. These findings indicate that BMP7 is an important signaling molecule for normal development of the mammalian skeleton, kidney, and eye. Academic Press
Subject(s)
Abnormalities, Multiple/genetics , Bone Morphogenetic Proteins/genetics , Bone Morphogenetic Proteins/physiology , Bone and Bones/abnormalities , Eye Abnormalities/genetics , Kidney/abnormalities , Transforming Growth Factor beta , Abnormalities, Multiple/pathology , Animals , Animals, Newborn , Base Sequence , Bone Morphogenetic Protein 7 , DNA Primers/genetics , Eye Abnormalities/pathology , Female , Genes, bcl-2 , Homozygote , Male , Mice , Mice, Knockout , Mutagenesis, Insertional , Phenotype , Polymerase Chain Reaction , PregnancyABSTRACT
The study of the organization of immunoglobulin and T cell receptor genes in leukaemias and lymphomas depends on our ability to obtain high molecular weight DNA. We have compared two different methods of DNA extraction: one being enzymatic, using the enzyme proteinase K, and the other chemical, using urea as a substance purifying DNA. Since the amount and purity of the DNA obtained are similar with each of the two methods of DNA extraction, both are valid to make such a genetic analysis.