Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.
Smith-Magenis syndrome (SMS), caused by del(17)p11.2, represents one of the most frequently observed human microdeletion syndromes. We have identified three copies of a low-copy-number repeat (SMS-REPs) located within and flanking the SMS common deletion region and show that SMS-REP represents a repeated gene cluster. We have isolated a corresponding cDNA clone that identifies a novel junction fragment from 29 unrelated SMS patients and a different-sized junction fragment from a patient with dup(17)p11.2. Our results suggest that homologous recombination of a flanking repeat gene cluster is a mechanism for this common microdeletion syndrome.
Chen
K S
KS
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Manian
P
P
Koeuth
T
T
Potocki
L
L
Zhao
Q
Q
Chinault
A C
AC
Lee
C C
CC
Lupski
J R
JR
D000015:Abnormalities, Multiple / Q000235:genetics; D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008969:Molecular Sequence Data; D005810:Multigene Family; D016133:Polymerase Chain Reaction; D011995:Recombination, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D013577:Syndrome
D017931:DNA Primers