Disease relevance of at

• We used commercially available filter-based DNA arrays to analyze testicular gene expression from eight human testis biopsies and three different infertile mouse models (atrichosis mutation, ataxia telangiectasia knockout and CREMtau knockout) [1].
• The rat dominant hairless gene (Ht) of the WBN/Ila-Ht rat causes atrichosis in Ht/Ht and hypotrichosis in Ht/+ [2].

High impact information on at

• In particular, the testis-specific transcripts of Zfp95 and Zfp96 were greatly reduced in heterozygous, and completely absent in homozygous testis RNA from atrichosis mutant mice, further defining the germ cell specificity of these transcripts [3].
• Northern blot analysis of RNA from the testis of mice carrying the atrichosis mutation further validated these expression patterns [3].
• Studies of mice homozygous for the atrichosis (at/at) mutation suggested that the 2.4-kb transcript was expressed in germ cells in the testis [4].
• Clusterin mRNA is present in the supporting cells in the testes of normal mice and in both atrichosis (at) and dominant spotting mutant (Wv) mice, both of which are germ cell deficient [5].
• Similar observations were obtained with the atrichosis mutant mouse known to lack normal germ cells, indicating that prosaposin gene expression was not dependent on the presence of germ cells in the testis [6].

References