J. Huschenbett et al., MAPPING OF A HUMAN RIBOSOMAL-RNA GENE IN THE YAC CONTIG SURROUNDING THE SMA CANDIDATE GENE, Human genetics, 96(3), 1995, pp. 335-338
Using the yeast artificial chromosome (YAC) 116 flanking the autosomal
recessive spinal muscular atrophy (SMA) gene region, we have screened
a human fetal brain cDNA library and isolated the cDNA clone 14-3/9 w
ith an insert size of 2.5 kb. The cDNA clone could be identified as pa
rt of the human rRNA gene coding for 28S rRNA with a total size of 502
5 bp. The human 28S rRNA is involved in the organization of the 60S ri
bosomal subparticle and is arranged in a 13-kb pre-rRNA transcription
unit that occurs in tandem repeat clusters. Multiple copies of the rRN
A gene have been mapped by pulsed field blot hybridization in the YAC
contig between YAC 66 and YAC 116, which encompasses the SMA candidate
gene, and additionally in the distally localized YAC 153.