TY - JOUR
T1 - Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis
AU - Musarella, Maria A.
AU - Anson-Cartwright, C. Lynn
AU - McDowell, Cathy
AU - Burghes, Arthur H.M.
AU - Coulson, Susan E.
AU - Worton, Ronald G.
AU - Rommens, Johanna M.
N1 - Funding Information:
This research was funded by the RP Eye Research Foundation (Canada) and in part supported by the Fight for Sight Foundation, Preventing Blindness. The authors thank the members of the laboratories of Drs. Ron Worton and Peter Ray for their support and helpful discussions.
PY - 1991/10
Y1 - 1991/10
N2 - A genetic locus (RP3) for X-linked retinitis pigmentosa (XLRP) has been assigned to Xp21 by genetic linkage studies and has been supported by two Xp21 male deletion patients with XLRP. RP3 appears to be the most centromeric of several positioned loci, including chronic granulomatous disease (CGD), McLeod phenotype (XK), and Duchenne muscular dystrophy (DMD). In one patient, BB, the X-chromosome deletion includes RP3 and extends to within the DMD locus. Using a DMD cDNA, the centromeric endpoint of this patient was cloned and used as a starting point for chromosome walking along a normal X chromosome. A single-copy probe, XH1.4, positioned near the centromeric junction but deleted in BB, was used along with a CGD cDNA probe to establish a refined long-range physical map. Both probes recognized a common SfiI fragment of 205 kb. As the CGD gene covers approximately 30-60 kb, the RP3 locus has been restricted to approximately 150-170 kb. A CpG island, potentially marking a new gene, was identified within the SfiI fragment at a position approximately 35 kb from the deletion endpoint in BB.
AB - A genetic locus (RP3) for X-linked retinitis pigmentosa (XLRP) has been assigned to Xp21 by genetic linkage studies and has been supported by two Xp21 male deletion patients with XLRP. RP3 appears to be the most centromeric of several positioned loci, including chronic granulomatous disease (CGD), McLeod phenotype (XK), and Duchenne muscular dystrophy (DMD). In one patient, BB, the X-chromosome deletion includes RP3 and extends to within the DMD locus. Using a DMD cDNA, the centromeric endpoint of this patient was cloned and used as a starting point for chromosome walking along a normal X chromosome. A single-copy probe, XH1.4, positioned near the centromeric junction but deleted in BB, was used along with a CGD cDNA probe to establish a refined long-range physical map. Both probes recognized a common SfiI fragment of 205 kb. As the CGD gene covers approximately 30-60 kb, the RP3 locus has been restricted to approximately 150-170 kb. A CpG island, potentially marking a new gene, was identified within the SfiI fragment at a position approximately 35 kb from the deletion endpoint in BB.
UR - https://www.scopus.com/pages/publications/0025953114
U2 - 10.1016/0888-7543(91)90132-X
DO - 10.1016/0888-7543(91)90132-X
M3 - Article
C2 - 1769646
AN - SCOPUS:0025953114
SN - 0888-7543
VL - 11
SP - 263
EP - 272
JO - Genomics
JF - Genomics
IS - 2
ER -