Yasuteru Muragaki

Altered Growth and Branching Patterns in Synpolydactyly Caused by Mutations in HOXD13

Hox genes regulate patterning during limb development. It is believed that they function in the determination of the timing and extent of local growth rates. Here, it is demonstrated that synpolydactyly, an inherited human abnormality of the hands and feet, is caused by expansions of a polyalanine stretch in the amino-terminal region of HOXD13. The homozygous phenotype includes the transformation of metacarpal and metatarsal bones to short carpal- and tarsal-like bones. The mutations identify the polyalanine stretch outside of the DNA binding domain of HOXD13 as a region necessary for proper protein function.

Assembly and sequencing of a cDNA covering the entire mouse α1(IX) collagen chain

Abstract Type IX collagen, a member of the FACIT family of collagenous proteins, contains heterotrimeric molecules of distinct α1(IX), α2(IX) and α3(IX) chains. In this paper we describe the assembly and nucleotide sequence of a cDNA encoding the entire mouse α1(IX) collagen chain. The nucleotide sequence provides for the first time the complete primary structure of the mouse chain. Knowledge of the complete structure of mouse α1(IX) collagen will be useful for investigations of type IX collagen expression during normal mouse development and for the generation of transgenic mice with specific defects in this collagen.