Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

Using targeted exome sequencing, we identified mutations in NNT, an antioxidant defense gene, in individuals with familial glucocorticoid deficiency. In mice with Nnt loss, higher levels of adrenocortical cell apoptosis and impaired glucocorticoid production were observed. NNT knockdown in a human adrenocortical cell line resulted in impaired redox potential and increased reactive oxygen species (ROS) levels. Our results suggest that NNT may have a role in ROS detoxification in human adrenal glands.     

The Arabidopsis lyrata genome sequence and the basis of rapid genome size change

We report the 207-Mb genome sequence of the North American Arabidopsis lyrata strain MN47 based on 8.3× dideoxy sequence coverage. We predict 32,670 genes in this outcrossing species compared to the 27,025 genes in the selfing species Arabidopsis thaliana. The much smaller 125-Mb genome of A. thaliana, which diverged from A. lyrata 10 million years ago, likely constitutes the derived state for the family. We found evidence for DNA loss from large-scale rearrangements, but most of the difference in genome size can be attributed to hundreds of thousands of small deletions, mostly in noncoding DNA and transposons. Analysis of deletions and insertions still segregating in A. thaliana indicates that the process of DNA loss is ongoing, suggesting pervasive selection for a smaller genome. The high-quality reference genome sequence for A. lyrata will be an important resource for functional, evolutionary and ecological studies in the genus Arabidopsis.     

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.

Mutations of mitochondrial DNA (mtDNA) are an important cause of genetic disease. We describe a family with an unusual homoplasmic mutation that resulted in six neonatal deaths and one surviving child with Leigh syndrome. The mother is clinically normal, but a severe biochemical and molecular genetic defect was present in both a fatally affected child and the mother. This family highlights the role of homoplasmic mt-tRNA mutations in genetic disease.     

Some spatial and behavioral features of the thirteen-lined ground squirrel

Some relationships between home range, agonistic behavior, and reproductive patterns in thirteen-lined ground squirrels were investigated in Laramie Plains, Wyoming (August 1966–April 1969). Population size and densities fluctuated seasonally and annually. Adult male (N = 7) home ranges averaged 0.24 ha and were smaller than those of the female (N = 9), which averaged 0.35 ha. Agonistic interactions were more frequent during the natal period (late May–June) than during the breeding-gestation period (mid April–May). Most squirrels (86 percent) shared capture sites and had overlapping home ranges. However, a certain degree of spacing existed because of agonistic behavior.     

Use of agricultural lands by San Joaquin kit foxes

Although the current range of the endangered San Joaquin kit fox ( Vulpes macrotis mutica ) borders large areas of farmland, the ecology of this species rarely has been studied within an agricultural setting. In central California, we examined habitat use, prey availability, and diet of radio-collared kit foxes inhabiting an aqueduct right-of-way (ROW) bordered by farmland. During both years of study (1998–1999), nocturnal locations of foxes occurred more often than expected (based on habitat availability) in the ROW and less often than expected within annual crops. Orchards were used disproportionately more than their availability during 1998 and were used in proportion to availability during 1999. Kit foxes traveled up to 1.1 km into annual crops and up to 1.5 km into orchards. Among diurnal locations (den sites) of foxes, 98% were within the ROW. Live-trapping revealed higher densities and greater diversity of rodents along the ROW than within farmland. Remains of murid rodents were found in 79% of kit fox scats. Our findings indicated that kit foxes ranged into orchards and annual croplands at night, but almost never occupied these areas during the day. The lack of den sites and low prey availability within farmland probably limited the ability of kit foxes to exploit and occupy these areas. Providing artificial den sites within croplands (especially within orchards) and along canals may increase use of farmland by kit foxes and facilitate their movement between isolated patches of natural lands.