Robert E. Hill

TL;DR: Analysis of three independent Sey alleles is reported and it is shown that indeed this gene is mutated and that the mutations would predictably interrupt gene function.

TL;DR: It is shown that the chromosome 7q36 associated preaxial polydactyly, a frequently observed congenital limb malformation, results from point mutations in a Shh regulatory element, a regulator that lies within intron 5 of the Lmbr1 gene 1 Mb from the target gene Shh.

TL;DR: Analysis of patterns of programmed cell death and absence of nasal region expression from an Msx-1 transgene in Sey/Sey embryos suggest a requirement for Pax-6 in the transition from presumptive nasal ectoderm to placode, and that Msx -1, or genes regulating it, are possible targets for Pax -6.

TL;DR: The isolation and characterization of a gene family located within a deletion in Y chromosome interval 6 is reported, suggesting a possible role in RNA processing or translational control during early spermatogenesis.

TL;DR: A translocation breakpoint in a PPD patient and a transgenic insertion site in the polydactylous mouse mutant sasquatch reveals that the Lmbr1 gene is incidental to the phenotype and that the mutation directly interrupts a cis-acting regulator of Shh, most likely the target for generating PPD mutations in human.