Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
Usher syndrome type IIa (OMIM 276901), an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa, maps to the long arm of human chromosome 1q41 between markers AFM268ZD1 and AFM144XF2. Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region. The USH2A gene encodes a protein with a predicted size of 171.5 kilodaltons that has laminin epidermal growth factor and fibronectin type III motifs; these motifs are most commonly observed in proteins comprising components of the basal lamina and extracellular matrixes and in cell adhesion molecules.
Eudy
J D
JD
Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198, USA.
Weston
M D
MD
Yao
S
S
Hoover
D M
DM
Rehm
H L
HL
Ma-Edmonds
M
M
Yan
D
D
Ahmad
I
I
Cheng
J J
JJ
Ayuso
C
C
Cremers
C
C
Davenport
S
S
Moller
C
C
Talmadge
C B
CB
Beisel
K W
KW
Tamayo
M
M
Morton
C C
CC
Swaroop
A
A
Kimberling
W J
WJ
Sumegi
J
J
D000595:Amino Acid Sequence; D000818:Animals; D015815:Cell Adhesion Molecules / Q000737:chemistry; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D003051:Cochlea / Q000737:chemistry; D004815:Epidermal Growth Factor / Q000737:chemistry; D016326:Extracellular Matrix Proteins / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D005260:Female; D005353:Fibronectins / Q000737:chemistry; D016368:Frameshift Mutation; D015870:Gene Expression; D005808:Genes, Recessive; D006031:Glycosylation; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007797:Laminin / Q000737:chemistry; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D012160:Retina / Q000737:chemistry; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome; D014407:Tumor Cells, Cultured
D015815:Cell Adhesion Molecules; D016326:Extracellular Matrix Proteins; D005353:Fibronectins; D007797:Laminin; C112735:USH2A protein, human; D004815:Epidermal Growth Factor