Assembly of a high-resolution map of the Acadian Usher syndrome region and localization of the nuclear EF-hand acidic gene.
Usher syndrome type 1C (USH1C) occurs in a small population of Acadian descendants from southwestern Louisiana. Linkage and linkage disequilibrium analyses localize USH1C to chromosome 11p between markers D11S1397 and D11S1888, an interval of less than 680 kb. Here, we refine the USH1C linkage to a region less than 400 kb, between genetic markers D11S1397 and D11S1890. Using 17 genetic markers from this interval, we have isolated a contiguous set of 60 bacterial artificial chromosomes (BACs) that span the USH1C critical region. Exon trapping of BAC clones from this region resulted in the recovery of an exon of the nuclear EF-hand acidic (NEFA) gene. However, DNA sequence analysis of the NEFA cDNA from lymphocytes of affected individuals provided no evidence of mutation, making structural mutations in the NEFA protein unlikely as the cellular cause of Acadian Usher syndrome.
DeAngelis
M M
MM
Department of Pathology, Louisiana State University Medical Center, 1901 Perdido Street, New Orleans, LA 70112, USA.
Doucet
J P
JP
Drury
S
S
Sherry
S T
ST
Robichaux
M B
MB
Den
Z
Z
Pelias
M Z
MZ
Ditta
G M
GM
Keats
B J
BJ
Deininger
P L
PL
Batzer
M A
MA
D017101:Bacteriophage P1 / Q000235:genetics; D002135:Calcium-Binding Proteins; D002170:Canada / Q000208:ethnology; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002880:Chromosomes, Human, Pair 11; D003001:Cloning, Molecular; D004268:DNA-Binding Proteins / Q000235:genetics*; D005602:France / Q000208:ethnology; D006319:Hearing Loss, Sensorineural / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008145:Louisiana / Q000453:epidemiology; D018895:Microsatellite Repeats; D009419:Nerve Tissue Proteins; D000080866:Nucleobindins; D012174:Retinitis Pigmentosa / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013577:Syndrome
D002135:Calcium-Binding Proteins; D004268:DNA-Binding Proteins; C000630650:NUCB2 protein, human; D009419:Nerve Tissue Proteins; D000080866:Nucleobindins