High incidence of single nucleotide substitutions in the mitochondrial genome is associated with poor semen parameters in men

A J Holyoake, P McHugh, M Wu, S O'Carroll, P Benny, I L Sin, F Y Sin

Research output: Contribution to journalArticle

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Abstract

Single nucleotide polymorphisms (SNPs) in 7000 bp of the mitochondrial genome, encompassing 15 coding regions from COI to ND5, were characterized by single strand polymorphism analysis and confirmed by DNA sequencing. About 2.4% of normozoospermic men and 8.4% of men with poor semen quality had at least one nucleotide substitution. Most of the substitutions occurred in the third codon and did not change the amino acid. Hydrophobicity plots of the proteins with changes in an amino acid as a result of a nucleotide substitution suggested that they did not affect the function of the protein. The two most common substitutions at nucleotide (nt) 9055 and 11719 had significantly higher frequencies in men with reduced sperm motility. Eleven percent of the men with poor semen parameters and 1.3% of normozoospermic men had a 9055 substitution, 12% of the men with poor semen parameters had a substitution at nt 11719, but none of the normozoospermic men had this substitution. All the patients with these substitutions had reduced sperm motility and/or low sperm count. These SNPs in the mitochondrial genome were in a homoplasmic state. Thus, we propose that possessing these mitochondrial mutations compromises the semen quality of these men.

LanguageEnglish
Pages175-82
Number of pages8
JournalInternational Journal of Andrology
Volume24
Issue number3
DOIs
Publication statusPublished - Jun 2001
Externally publishedYes

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Mitochondrial Genome
Semen
Nucleotides
Incidence
Semen Analysis
Sperm Motility
Single Nucleotide Polymorphism
Oligospermia
Amino Acids
Hydrophobic and Hydrophilic Interactions
DNA Sequence Analysis
Codon
Proteins
Mutation

Cite this

Holyoake, A J ; McHugh, P ; Wu, M ; O'Carroll, S ; Benny, P ; Sin, I L ; Sin, F Y. / High incidence of single nucleotide substitutions in the mitochondrial genome is associated with poor semen parameters in men. In: International Journal of Andrology. 2001 ; Vol. 24, No. 3. pp. 175-82.
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abstract = "Single nucleotide polymorphisms (SNPs) in 7000 bp of the mitochondrial genome, encompassing 15 coding regions from COI to ND5, were characterized by single strand polymorphism analysis and confirmed by DNA sequencing. About 2.4{\%} of normozoospermic men and 8.4{\%} of men with poor semen quality had at least one nucleotide substitution. Most of the substitutions occurred in the third codon and did not change the amino acid. Hydrophobicity plots of the proteins with changes in an amino acid as a result of a nucleotide substitution suggested that they did not affect the function of the protein. The two most common substitutions at nucleotide (nt) 9055 and 11719 had significantly higher frequencies in men with reduced sperm motility. Eleven percent of the men with poor semen parameters and 1.3{\%} of normozoospermic men had a 9055 substitution, 12{\%} of the men with poor semen parameters had a substitution at nt 11719, but none of the normozoospermic men had this substitution. All the patients with these substitutions had reduced sperm motility and/or low sperm count. These SNPs in the mitochondrial genome were in a homoplasmic state. Thus, we propose that possessing these mitochondrial mutations compromises the semen quality of these men.",
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High incidence of single nucleotide substitutions in the mitochondrial genome is associated with poor semen parameters in men. / Holyoake, A J; McHugh, P; Wu, M; O'Carroll, S; Benny, P; Sin, I L; Sin, F Y.

In: International Journal of Andrology, Vol. 24, No. 3, 06.2001, p. 175-82.

Research output: Contribution to journalArticle

TY - JOUR

T1 - High incidence of single nucleotide substitutions in the mitochondrial genome is associated with poor semen parameters in men

AU - Holyoake, A J

AU - McHugh, P

AU - Wu, M

AU - O'Carroll, S

AU - Benny, P

AU - Sin, I L

AU - Sin, F Y

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N2 - Single nucleotide polymorphisms (SNPs) in 7000 bp of the mitochondrial genome, encompassing 15 coding regions from COI to ND5, were characterized by single strand polymorphism analysis and confirmed by DNA sequencing. About 2.4% of normozoospermic men and 8.4% of men with poor semen quality had at least one nucleotide substitution. Most of the substitutions occurred in the third codon and did not change the amino acid. Hydrophobicity plots of the proteins with changes in an amino acid as a result of a nucleotide substitution suggested that they did not affect the function of the protein. The two most common substitutions at nucleotide (nt) 9055 and 11719 had significantly higher frequencies in men with reduced sperm motility. Eleven percent of the men with poor semen parameters and 1.3% of normozoospermic men had a 9055 substitution, 12% of the men with poor semen parameters had a substitution at nt 11719, but none of the normozoospermic men had this substitution. All the patients with these substitutions had reduced sperm motility and/or low sperm count. These SNPs in the mitochondrial genome were in a homoplasmic state. Thus, we propose that possessing these mitochondrial mutations compromises the semen quality of these men.

AB - Single nucleotide polymorphisms (SNPs) in 7000 bp of the mitochondrial genome, encompassing 15 coding regions from COI to ND5, were characterized by single strand polymorphism analysis and confirmed by DNA sequencing. About 2.4% of normozoospermic men and 8.4% of men with poor semen quality had at least one nucleotide substitution. Most of the substitutions occurred in the third codon and did not change the amino acid. Hydrophobicity plots of the proteins with changes in an amino acid as a result of a nucleotide substitution suggested that they did not affect the function of the protein. The two most common substitutions at nucleotide (nt) 9055 and 11719 had significantly higher frequencies in men with reduced sperm motility. Eleven percent of the men with poor semen parameters and 1.3% of normozoospermic men had a 9055 substitution, 12% of the men with poor semen parameters had a substitution at nt 11719, but none of the normozoospermic men had this substitution. All the patients with these substitutions had reduced sperm motility and/or low sperm count. These SNPs in the mitochondrial genome were in a homoplasmic state. Thus, we propose that possessing these mitochondrial mutations compromises the semen quality of these men.

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KW - Point Mutation/genetics

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KW - Polymorphism, Single-Stranded Conformational

KW - Sequence Analysis, DNA

KW - Sperm Count

KW - Sperm Motility

KW - Spermatozoa/physiology

KW - Surface Properties

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