Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression.

The semidominant Danforth's short tail (Sd) mutation arose spontaneously in the 1920s. The homozygous Sd phenotype includes severe malformations of the axial skeleton with an absent tail, kidney agenesis, anal atresia, and persistent cloaca. The Sd mutant phenotype mirrors features seen in human caudal malformation syndromes including urorectal septum malformation, caudal regression, VACTERL association, and persistent cloaca.

Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication.

Omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex, or cloacal exstrophy (EC), is a rare constellation of malformations in humans involving the urogenital, gastrointestinal, and skeletal systems, and less commonly the central nervous system. Although OEIS complex is well-recognized in the clinical setting, there remains a significant lack of understanding of this condition at both the developmental and the genetic level. While most cases are sporadic, familial cases have been reported, suggesting that one or more specific genes may play a significant role in this condition.

Occupational and environmental mercury exposure among small-scale gold miners in the Talensi-Nabdam District of Ghana's Upper East region.

Mercury use in small-scale gold mining is ubiquitous across Ghana but little is known about the extent to which such activities have contaminated community residents and miners. Here, occupational exposures to elemental mercury (via urine sampling) and dietary exposures to methylmercury (via hair sampling) were assessed among 120 participants recruited from a mining community located in the Talensi-Nabdam District of Ghana's Upper East region during summer 2009. More than one-fifth of the participants had moderately high levels of urinary mercury (>10μg/L) and 5% had urine mercury levels that exceeded the WHO guideline value of 50μg/L.