Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene.
Low-copy repeats have been associated with genomic rearrangements and have been implicated in the generation of mutations in several diseases. Here we characterize a subset of low-copy repeats in the spinal muscular atrophy (SMA) region in human chromosome 5q13. We show that this repeated sequence, named c41-cad, is a highly expressed pseudogene derived from an intact neuronal cadherin gene, Br-cadherin, situated on 5p13-14. Br-cadherin is expressed specifically in the brain, whereas the c41-cad transcripts are 10-15 times more abundant and are present in all tissues examined. We speculate that the c41-cad repeats, separately or in concert with other repeats in the SMA region, are involved in the pathogenesis of SMA by promoting rearrangements and deletions.
Selig
S
S
Howard Hughes Medical Institute, Children's Hospital, Boston, MA 02115, USA.
Bruno
S
S
Scharf
J M
JM
Wang
C H
CH
Vitale
E
E
Gilliam
T C
TC
Kunkel
L M
LM
D000595:Amino Acid Sequence; D001483:Base Sequence; D001921:Brain / Q000378:metabolism; D015820:Cadherins / Q000096:biosynthesis / Q000235:genetics*; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002895:Chromosomes, Human, Pair 5; D017931:DNA Primers; D018076:DNA, Complementary; D005260:Female; D005333:Fetus; D015870:Gene Expression; D015723:Gene Library; D006801:Humans; D008969:Molecular Sequence Data; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009474:Neurons / Q000378:metabolism*; D016366:Open Reading Frames; D010920:Placenta; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011544:Pseudogenes; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid; D014158:Transcription, Genetic
D015820:Cadherins; D017931:DNA Primers; D018076:DNA, Complementary