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

D A Scott; J H Greinwald; J R Marietta; S Drury; R E Swiderski; A Viñas; M M DeAngelis; R Carmi; A Ramesh; M L Kraft; K Elbedour; A B Skworak; R A Friedman; C R Srikumari Srisailapathy; K Verhoeven; G Van Gamp; M Lovett; P L Deininger; M A Batzer; C C Morton; B J Keats; R J Smith; V C Sheffield

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

D A Scott
, J H Greinwald
, J R Marietta
, S Drury
, R E Swiderski
, A Viñas
, M M DeAngelis
, R Carmi
, A Ramesh
, M L Kraft
, K Elbedour
, A B Skworak
, R A Friedman
, C R Srikumari Srisailapathy
, K Verhoeven
, G Van Gamp
, M Lovett
, P L Deininger
, M A Batzer
, C C Morton

B J Keats, R J Smith, V C Sheffield

Division of Evolution, Infection and Genomics

The University of Iowa

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	461-9
Number of pages	9
Journal	Gene
Volume	215
Issue number	2
Publication status	Published - 30 Jul 1998

Keywords

Algorithms
Amino Acid Sequence
Animals
Base Sequence
Chromosome Mapping
Chromosomes, Artificial, Yeast
Chromosomes, Human, Pair 19
Cochlea
DNA Mutational Analysis
Exons
Fetus
Genes, Recessive
Hearing Loss
Human Genome Project
Humans
Introns
Mice
Molecular Sequence Data
Protein Biosynthesis
Proteins
RNA, Messenger
Sequence Alignment
Sequence Homology, Amino Acid
Zinc Fingers
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Cite this

Scott, D. A., Greinwald, J. H., Marietta, J. R., Drury, S., Swiderski, R. E., Viñas, A., DeAngelis, M. M., Carmi, R., Ramesh, A., Kraft, M. L., Elbedour, K., Skworak, A. B., Friedman, R. A., Srikumari Srisailapathy, C. R., Verhoeven, K., Van Gamp, G., Lovett, M., Deininger, P. L., Batzer, M. A., ... Sheffield, V. C. (1998). 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. Gene, 215(2), 461-9.

@article{1c9d50902c6f41d08f0b55062c7d055d,

title = "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",

abstract = "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.",

keywords = "Algorithms, Amino Acid Sequence, Animals, Base Sequence, Chromosome Mapping, Chromosomes, Artificial, Yeast, Chromosomes, Human, Pair 19, Cochlea, DNA Mutational Analysis, Exons, Fetus, Genes, Recessive, Hearing Loss, Human Genome Project, Humans, Introns, Mice, Molecular Sequence Data, Protein Biosynthesis, Proteins, RNA, Messenger, Sequence Alignment, Sequence Homology, Amino Acid, Zinc Fingers, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.",

author = "Scott, \{D A\} and Greinwald, \{J H\} and Marietta, \{J R\} and S Drury and Swiderski, \{R E\} and A Vi{\~n}as and DeAngelis, \{M M\} and R Carmi and A Ramesh and Kraft, \{M L\} and K Elbedour and Skworak, \{A B\} and Friedman, \{R A\} and \{Srikumari Srisailapathy\}, \{C R\} and K Verhoeven and \{Van Gamp\}, G and M Lovett and Deininger, \{P L\} and Batzer, \{M A\} and Morton, \{C C\} and Keats, \{B J\} and Smith, \{R J\} and Sheffield, \{V C\}",

year = "1998",

month = jul,

day = "30",

language = "English",

volume = "215",

pages = "461--9",

journal = "Gene",

issn = "0378-1119",

publisher = "Elsevier BV",

number = "2",

}

Scott, DA, Greinwald, JH, Marietta, JR, Drury, S, Swiderski, RE, Viñas, A, DeAngelis, MM, Carmi, R, Ramesh, A, Kraft, ML, Elbedour, K, Skworak, AB, Friedman, RA, Srikumari Srisailapathy, CR, Verhoeven, K, Van Gamp, G, Lovett, M, Deininger, PL, Batzer, MA, Morton, CC, Keats, BJ, Smith, RJ & Sheffield, VC 1998, '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', Gene, vol. 215, no. 2, pp. 461-9.

TY - JOUR

T1 - 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

AU - Scott, D A

AU - Greinwald, J H

AU - Marietta, J R

AU - Drury, S

AU - Swiderski, R E

AU - Viñas, A

AU - DeAngelis, M M

AU - Carmi, R

AU - Ramesh, A

AU - Kraft, M L

AU - Elbedour, K

AU - Skworak, A B

AU - Friedman, R A

AU - Srikumari Srisailapathy, C R

AU - Verhoeven, K

AU - Van Gamp, G

AU - Lovett, M

AU - Deininger, P L

AU - Batzer, M A

AU - Morton, C C

AU - Keats, B J

AU - Smith, R J

AU - Sheffield, V C

PY - 1998/7/30

Y1 - 1998/7/30

N2 - 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.

AB - 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.

KW - Algorithms

KW - Amino Acid Sequence

KW - Animals

KW - Base Sequence

KW - Chromosome Mapping

KW - Chromosomes, Artificial, Yeast

KW - Chromosomes, Human, Pair 19

KW - Cochlea

KW - DNA Mutational Analysis

KW - Exons

KW - Fetus

KW - Genes, Recessive

KW - Hearing Loss

KW - Human Genome Project

KW - Humans

KW - Introns

KW - Mice

KW - Molecular Sequence Data

KW - Protein Biosynthesis

KW - Proteins

KW - RNA, Messenger

KW - Sequence Alignment

KW - Sequence Homology, Amino Acid

KW - Zinc Fingers

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

KW - Research Support, U.S. Gov't, P.H.S.

M3 - Article

C2 - 9758550

SN - 0378-1119

VL - 215

SP - 461

EP - 469

JO - Gene

JF - Gene

IS - 2

ER -

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

Abstract

Keywords

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Cite this