Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands

Autosomal dominant aplasia of lacrimal and salivary glands (ALSG; OMIM 180920 and OMIM 103420) is a rare condition characterized by irritable eyes and dryness of the mouth. We mapped ALSG to 5p13.2-5q13.1, which coincides with the gene fibroblast growth factor 10 (FGF10). In two extended pedigrees, we identified heterozygous mutations in FGF10 in all individuals with ALSG. Fgf10(+/-) mice have a phenotype similar to ALSG, providing a model for this disorder. We suggest that haploinsufficiency for FGF10 during a crucial stage of development results in ALSG.     

Epigenetic status of human embryonic stem cells

We examined the allele-specific expression of six imprinted genes and the methylation profiles of three imprinting control regions to assess the epigenetic status of human embryonic stem cells. We identified generally monoallelic gene expression and normal methylation patterns. During prolonged passage, one cell line became biallelic with respect to H19, but without loss of the gametic methylation imprint. These data argue for a substantial degree of epigenetic stability in human embryonic stem cells.     

Fine-scale structural variation of the human genome

Inversions, deletions and insertions are important mediators of disease and disease susceptibility. We systematically compared the human genome reference sequence with a second genome (represented by fosmid paired-end sequences) to detect intermediate-sized structural variants >8 kb in length. We identified 297 sites of structural variation: 139 insertions, 102 deletions and 56 inversion breakpoints. Using combined literature, sequence and experimental analyses, we validated 112 of the structural variants, including several that are of biomedical relevance. These data provide a fine-scale structural variation map of the human genome and the requisite sequence precision for subsequent genetic studies of human disease.     

Frequency of the various stages of the seminiferous epithelium in different strains of male mice

Summary The duration of the various development stages of the seminiferous epithelium in different strains of male mice was determined by scoring the frequency distribution in randomly selected tubule cross-sections. The results obtained show a difference in the duration of the various stages between the different strains.Acknowledgments. The authors would like to thank Dr.J. Baarli and many other members of the Health Physics Group for their help and valuable assistance during the process of this work.     

Cytogenetics of South American akodont rodents (Cricetidae). V. Segregation of chromosome No. 1 polymorphism in Akodon molinae

Akodon molinae is polymorphic with 2n=42, 43, 44, where the metacentric autosome No. 1 is homologous to 2 acrocentrics 1a and 1b. Matings between 2n=43 heterozygotes 1/1a, 1b gave a surplus of 1/1 offspring, a moderate reduction of heterozygous and a strong reduction of homozygous 1a, 1b/1a, 1b offspring. The latter type also has a highly reduced fertility.     

Penicillamine induced changes in growing rats. II. liver parenchymal cell

Zusammenfassung d-Penicillamin als Kupferchelator bewirkt im Langzeitversuch eine isolierte Veränderung der stereologischen Parameter der Mitochondrien und der «microbodies». Zusammenhänge mit der Aktivitätshemmung kupferhaltiger Oxydasen in den beiden Zellorganellen werden vermutet.