Modifier locus for mitochondrial DNA disease

Linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness

Yelena Bykhovskaya, Huiying Yang, Kent Taylor, Tieu Hang, Richard Y M Tun, Xavier P. Estivill, Rosaria A M S Casano, Kari Majamaa, Mordechai Shohat, Nathan Fischel-Ghodsian

Research output: Contribution to journalArticle

44 Citations (Scopus)

Abstract

Purpose: To examine the role of the nuclear genome in affecting the phenotypic expression of the simplest model of a mitochondrial DNA disease, maternally transmitted deafness. Methods: Linkage analysis in families with maternally inherited deafness associated with the homoplasmic A1555G mutation. Results: Significant linkage and linkage disequilibrium on chromosome 8 was identified. Conclusions: This finding represents the first identification of a modifier locus for a human mitochondrial DNA disease and supports the concept of mitochondrial DNA diseases having complex genetic inheritance. The eventual identification of this modifier gene will provide insights into the pathophysiological pathways determining the clinical expression of mitochondrial DNA diseases, an important step toward diagnostic and therapeutic interventions.

Original languageEnglish
Pages (from-to)177-180
Number of pages4
JournalGenetics in Medicine
Volume3
Issue number3
Publication statusPublished - 2001
Externally publishedYes

Fingerprint

Modifier Genes
Mitochondrial Diseases
Chromosome Mapping
Linkage Disequilibrium
Deafness
Mitochondrial DNA
Chromosomes, Human, Pair 8
Critical Pathways
Genome
Mutation
Maternal Inheritance

Keywords

  • Deafness
  • Linkage analysis
  • Linkage disequilibrium
  • Mitochondrial mutation
  • Nuclear modifier gene

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Modifier locus for mitochondrial DNA disease : Linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. / Bykhovskaya, Yelena; Yang, Huiying; Taylor, Kent; Hang, Tieu; Tun, Richard Y M; Estivill, Xavier P.; Casano, Rosaria A M S; Majamaa, Kari; Shohat, Mordechai; Fischel-Ghodsian, Nathan.

In: Genetics in Medicine, Vol. 3, No. 3, 2001, p. 177-180.

Research output: Contribution to journalArticle

Bykhovskaya, Y, Yang, H, Taylor, K, Hang, T, Tun, RYM, Estivill, XP, Casano, RAMS, Majamaa, K, Shohat, M & Fischel-Ghodsian, N 2001, 'Modifier locus for mitochondrial DNA disease: Linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness', Genetics in Medicine, vol. 3, no. 3, pp. 177-180.
Bykhovskaya, Yelena ; Yang, Huiying ; Taylor, Kent ; Hang, Tieu ; Tun, Richard Y M ; Estivill, Xavier P. ; Casano, Rosaria A M S ; Majamaa, Kari ; Shohat, Mordechai ; Fischel-Ghodsian, Nathan. / Modifier locus for mitochondrial DNA disease : Linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. In: Genetics in Medicine. 2001 ; Vol. 3, No. 3. pp. 177-180.
@article{0638f82a2b18498e90b731785bb6bbdd,
title = "Modifier locus for mitochondrial DNA disease: Linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness",
abstract = "Purpose: To examine the role of the nuclear genome in affecting the phenotypic expression of the simplest model of a mitochondrial DNA disease, maternally transmitted deafness. Methods: Linkage analysis in families with maternally inherited deafness associated with the homoplasmic A1555G mutation. Results: Significant linkage and linkage disequilibrium on chromosome 8 was identified. Conclusions: This finding represents the first identification of a modifier locus for a human mitochondrial DNA disease and supports the concept of mitochondrial DNA diseases having complex genetic inheritance. The eventual identification of this modifier gene will provide insights into the pathophysiological pathways determining the clinical expression of mitochondrial DNA diseases, an important step toward diagnostic and therapeutic interventions.",
keywords = "Deafness, Linkage analysis, Linkage disequilibrium, Mitochondrial mutation, Nuclear modifier gene",
author = "Yelena Bykhovskaya and Huiying Yang and Kent Taylor and Tieu Hang and Tun, {Richard Y M} and Estivill, {Xavier P.} and Casano, {Rosaria A M S} and Kari Majamaa and Mordechai Shohat and Nathan Fischel-Ghodsian",
year = "2001",
language = "English",
volume = "3",
pages = "177--180",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "Lippincott Williams and Wilkins",
number = "3",

}

TY - JOUR

T1 - Modifier locus for mitochondrial DNA disease

T2 - Linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness

AU - Bykhovskaya, Yelena

AU - Yang, Huiying

AU - Taylor, Kent

AU - Hang, Tieu

AU - Tun, Richard Y M

AU - Estivill, Xavier P.

AU - Casano, Rosaria A M S

AU - Majamaa, Kari

AU - Shohat, Mordechai

AU - Fischel-Ghodsian, Nathan

PY - 2001

Y1 - 2001

N2 - Purpose: To examine the role of the nuclear genome in affecting the phenotypic expression of the simplest model of a mitochondrial DNA disease, maternally transmitted deafness. Methods: Linkage analysis in families with maternally inherited deafness associated with the homoplasmic A1555G mutation. Results: Significant linkage and linkage disequilibrium on chromosome 8 was identified. Conclusions: This finding represents the first identification of a modifier locus for a human mitochondrial DNA disease and supports the concept of mitochondrial DNA diseases having complex genetic inheritance. The eventual identification of this modifier gene will provide insights into the pathophysiological pathways determining the clinical expression of mitochondrial DNA diseases, an important step toward diagnostic and therapeutic interventions.

AB - Purpose: To examine the role of the nuclear genome in affecting the phenotypic expression of the simplest model of a mitochondrial DNA disease, maternally transmitted deafness. Methods: Linkage analysis in families with maternally inherited deafness associated with the homoplasmic A1555G mutation. Results: Significant linkage and linkage disequilibrium on chromosome 8 was identified. Conclusions: This finding represents the first identification of a modifier locus for a human mitochondrial DNA disease and supports the concept of mitochondrial DNA diseases having complex genetic inheritance. The eventual identification of this modifier gene will provide insights into the pathophysiological pathways determining the clinical expression of mitochondrial DNA diseases, an important step toward diagnostic and therapeutic interventions.

KW - Deafness

KW - Linkage analysis

KW - Linkage disequilibrium

KW - Mitochondrial mutation

KW - Nuclear modifier gene

UR - http://www.scopus.com/inward/record.url?scp=18544371057&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=18544371057&partnerID=8YFLogxK

M3 - Article

VL - 3

SP - 177

EP - 180

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

IS - 3

ER -