Linkage to CFA29 detected in a genome-wide linkage screen of a canine pedigree segregating Sry-negative XX sex reversal

S. Pujar, K. S D Kothapalli, H. H H Göring, V. N. Meyers-Wallen

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Canine Sry-negative XX sex reversal is a disorder of gonadal development wherein individuals having a female karyotype develop testes or ovotestes. In this study, linkage mapping was undertaken in a pedigree derived from one proven carrier American cocker spaniel founder male and beagle females. All affected dogs in the analysis were XX true hermaphrodites and confirmed to be Sry negative by polymerase chain reaction. A genome-wide linkage screen conducted using 245 microsatellite markers revealed highest LOD score of 3.4 (marker CPH9) on CFA29. Fine mapping with additional microsatellites in the region containing CPH9 localized the Sry-negative XX sex reversal locus to a 5.4-Mb candidate region between markers CPH9 and FH3003 (LOD score 3.15). Insignificant LOD scores were found at genome-wide screen or fine mapping markers that were within 10 Mb of 45 potential candidate genes reported to have a role in mammalian sex determination or differentiation. Together, these results suggest that a novel locus on CFA29 may be responsible for sex reversal in this pedigree.

Original languageEnglish (US)
Pages (from-to)438-444
Number of pages7
JournalJournal of Heredity
Volume98
Issue number5
DOIs
StatePublished - 2007
Externally publishedYes

Fingerprint

46, XX Testicular Disorders of Sex Development
sex reversal
Pedigree
pedigree
Microsatellite Repeats
linkage (genetics)
Gonadal Disorders
Canidae
Genome
Safe Sex
genome
dogs
Chromosome Mapping
Karyotype
microsatellite repeats
Cocker Spaniel
Testis
personal development
loci
Dogs

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Genetics
  • Genetics(clinical)

Cite this

Linkage to CFA29 detected in a genome-wide linkage screen of a canine pedigree segregating Sry-negative XX sex reversal. / Pujar, S.; Kothapalli, K. S D; Göring, H. H H; Meyers-Wallen, V. N.

In: Journal of Heredity, Vol. 98, No. 5, 2007, p. 438-444.

Research output: Contribution to journalArticle

Pujar, S. ; Kothapalli, K. S D ; Göring, H. H H ; Meyers-Wallen, V. N. / Linkage to CFA29 detected in a genome-wide linkage screen of a canine pedigree segregating Sry-negative XX sex reversal. In: Journal of Heredity. 2007 ; Vol. 98, No. 5. pp. 438-444.
@article{6e4d228f2de94cb1ad0fc5297e6e9bab,
title = "Linkage to CFA29 detected in a genome-wide linkage screen of a canine pedigree segregating Sry-negative XX sex reversal",
abstract = "Canine Sry-negative XX sex reversal is a disorder of gonadal development wherein individuals having a female karyotype develop testes or ovotestes. In this study, linkage mapping was undertaken in a pedigree derived from one proven carrier American cocker spaniel founder male and beagle females. All affected dogs in the analysis were XX true hermaphrodites and confirmed to be Sry negative by polymerase chain reaction. A genome-wide linkage screen conducted using 245 microsatellite markers revealed highest LOD score of 3.4 (marker CPH9) on CFA29. Fine mapping with additional microsatellites in the region containing CPH9 localized the Sry-negative XX sex reversal locus to a 5.4-Mb candidate region between markers CPH9 and FH3003 (LOD score 3.15). Insignificant LOD scores were found at genome-wide screen or fine mapping markers that were within 10 Mb of 45 potential candidate genes reported to have a role in mammalian sex determination or differentiation. Together, these results suggest that a novel locus on CFA29 may be responsible for sex reversal in this pedigree.",
author = "S. Pujar and Kothapalli, {K. S D} and G{\"o}ring, {H. H H} and Meyers-Wallen, {V. N.}",
year = "2007",
doi = "10.1093/jhered/esm028",
language = "English (US)",
volume = "98",
pages = "438--444",
journal = "Journal of Heredity",
issn = "0022-1503",
publisher = "Oxford University Press",
number = "5",

}

TY - JOUR

T1 - Linkage to CFA29 detected in a genome-wide linkage screen of a canine pedigree segregating Sry-negative XX sex reversal

AU - Pujar, S.

AU - Kothapalli, K. S D

AU - Göring, H. H H

AU - Meyers-Wallen, V. N.

PY - 2007

Y1 - 2007

N2 - Canine Sry-negative XX sex reversal is a disorder of gonadal development wherein individuals having a female karyotype develop testes or ovotestes. In this study, linkage mapping was undertaken in a pedigree derived from one proven carrier American cocker spaniel founder male and beagle females. All affected dogs in the analysis were XX true hermaphrodites and confirmed to be Sry negative by polymerase chain reaction. A genome-wide linkage screen conducted using 245 microsatellite markers revealed highest LOD score of 3.4 (marker CPH9) on CFA29. Fine mapping with additional microsatellites in the region containing CPH9 localized the Sry-negative XX sex reversal locus to a 5.4-Mb candidate region between markers CPH9 and FH3003 (LOD score 3.15). Insignificant LOD scores were found at genome-wide screen or fine mapping markers that were within 10 Mb of 45 potential candidate genes reported to have a role in mammalian sex determination or differentiation. Together, these results suggest that a novel locus on CFA29 may be responsible for sex reversal in this pedigree.

AB - Canine Sry-negative XX sex reversal is a disorder of gonadal development wherein individuals having a female karyotype develop testes or ovotestes. In this study, linkage mapping was undertaken in a pedigree derived from one proven carrier American cocker spaniel founder male and beagle females. All affected dogs in the analysis were XX true hermaphrodites and confirmed to be Sry negative by polymerase chain reaction. A genome-wide linkage screen conducted using 245 microsatellite markers revealed highest LOD score of 3.4 (marker CPH9) on CFA29. Fine mapping with additional microsatellites in the region containing CPH9 localized the Sry-negative XX sex reversal locus to a 5.4-Mb candidate region between markers CPH9 and FH3003 (LOD score 3.15). Insignificant LOD scores were found at genome-wide screen or fine mapping markers that were within 10 Mb of 45 potential candidate genes reported to have a role in mammalian sex determination or differentiation. Together, these results suggest that a novel locus on CFA29 may be responsible for sex reversal in this pedigree.

UR - http://www.scopus.com/inward/record.url?scp=34548404658&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=34548404658&partnerID=8YFLogxK

U2 - 10.1093/jhered/esm028

DO - 10.1093/jhered/esm028

M3 - Article

C2 - 17591608

AN - SCOPUS:34548404658

VL - 98

SP - 438

EP - 444

JO - Journal of Heredity

JF - Journal of Heredity

SN - 0022-1503

IS - 5

ER -