Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19.
The DFNB7/11 locus for autosomal recessive non-syndromic hearing loss (ARNSHL) has been mapped to an approx. 1.5 Mb interval on human chromosome 9q13-q21. We have determined the cDNA sequence and genomic structure of a novel cochlear-expressed gene, ZNF216, that maps to the DFNB7/11 interval. The mouse orthologue of this gene maps to the murine dn (deafness) locus on mouse chromosome 19. The ZNF216 gene is highly conserved between human and mouse, and contains two regions that show homology to the putative zinc linger domains of other proteins. To determine it mutations in ZNF216 might be the cause of hearing loss at the DFNB7/11 locus, we screened the coding region of this gene in DFNB7/11 families by direct sequencing. No potential disease-causing mutations were found. In addition, Northern blot analysis showed no difference in ZNF216 transcript size or abundance between dn and control mice. These data Suggest that the ZNF216 gene is unlikely to be responsible for hearing loss at the DFNB7/11 and dn loci.
Scott
D A
DA
Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242-1078, USA.
Greinwald
J H
JH
Marietta
J R
JR
Drury
S
S
Swiderski
R E
RE
Viñas
A
A
DeAngelis
M M
MM
Carmi
R
R
Ramesh
A
A
Kraft
M L
ML
Elbedour
K
K
Skworak
A B
AB
Friedman
R A
RA
Srikumari Srisailapathy
C R
CR
Verhoeven
K
K
Van Gamp
G
G
Lovett
M
M
Deininger
P L
PL
Batzer
M A
MA
Morton
C C
CC
Keats
B J
BJ
Smith
R J
RJ
Sheffield
V C
VC
D000465:Algorithms; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002888:Chromosomes, Human, Pair 19; D003051:Cochlea / Q000378:metabolism*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D005091:Exons; D005333:Fetus; D005808:Genes, Recessive; D034381:Hearing Loss / Q000235:genetics*; D016045:Human Genome Project; D006801:Humans; D007438:Introns; D051379:Mice; D008969:Molecular Sequence Data; D014176:Protein Biosynthesis; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D012333:RNA, Messenger / Q000096:biosynthesis / Q000235:genetics; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D016335:Zinc Fingers
D004268:DNA-Binding Proteins; D011506:Proteins; D012333:RNA, Messenger; C114488:ZFAND5 protein, human; C485423:Zfand5 protein, mouse