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Genetic dosage and position effect of small supernumerary marker chromosome (sSMC) in human sperm nuclei in infertile male patient.

Olszewska M, Wanowska E, Kishore A, Huleyuk N, Georgiadis AP, Yatsenko AN, Mikula M, Zastavna D, Wiland E, Kurpisz M - Sci Rep (2015)

Bottom Line: The molecular cytogenetic characteristics of sSMC delineated the karyotype as 47,XY,+der(15)(pter->p11.2::q11.1->q11.2::p11.2->pter)mat.Importantly, we found significant repositioning of chromosomes X and Y towards the nuclear periphery, where both chromosomes were localized in close proximity to the sSMC.This suggests the possible influence of sSMC/XY colocalization on meiotic chromosome division, resulting in abnormal chromosome segregation, and leading to male infertility in the patient.

View Article: PubMed Central - PubMed

Affiliation: Institute of Human Genetics, Polish Academy of Sciences, Department of Reproductive Biology and Stem Cells, Strzeszynska 32, 60-479 Poznan, Poland.

ABSTRACT
Chromosomes occupy specific distinct areas in the nucleus of the sperm cell that may be altered in males with disrupted spermatogenesis. Here, we present alterations in the positioning of the human chromosomes 15, 18, X and Y between spermatozoa with the small supernumerary marker chromosome (sSMC; sSMC(+)) and spermatozoa with normal chromosome complement (sSMC(-)), for the first time described in the same ejaculate of an infertile, phenotypically normal male patient. Using classical and confocal fluorescent microscopy, the nuclear colocalization of chromosomes 15 and sSMC was analyzed. The molecular cytogenetic characteristics of sSMC delineated the karyotype as 47,XY,+der(15)(pter->p11.2::q11.1->q11.2::p11.2->pter)mat. Analysis of meiotic segregation showed a 1:1 ratio of sSMC(+) to sSMC(-) spermatozoa, while evaluation of sperm aneuploidy status indicated an increased level of chromosome 13, 18, 21 and 22 disomy, up to 7 × (2.7 - 15.1). Sperm chromatin integrity assessment did not reveal any increase in deprotamination in the patient's sperm chromatin. Importantly, we found significant repositioning of chromosomes X and Y towards the nuclear periphery, where both chromosomes were localized in close proximity to the sSMC. This suggests the possible influence of sSMC/XY colocalization on meiotic chromosome division, resulting in abnormal chromosome segregation, and leading to male infertility in the patient.

No MeSH data available.


Related in: MedlinePlus

The family pedigree of the infertile sSMC carrier (II:5) karyotyped as 47,XY,+der(15)(pter->p11.2::q11.1->q11.2::p11.2->pter)mat.
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f4: The family pedigree of the infertile sSMC carrier (II:5) karyotyped as 47,XY,+der(15)(pter->p11.2::q11.1->q11.2::p11.2->pter)mat.

Mentions: The family pedigree of the investigated sSMC case is shown in Fig. 4. The material for the analyses consisted of peripheral blood lymphocytes and spermatozoa from a 30-year old carrier (II:5) of marker chromosome 47,XY,+mar inherited maternally (I:3). The spermiogram exhibited decreased concentration, morphology and motility (moderate oligoasthenoteratozoospermia, OAT; with sperm concentration 10 × 106/ml) (according to WHO, 201057). The carrier presented a lack of conception over a 7-year period, though his wife (II:6) had normal karyotype and a healthy daughter (III:3) with another partner (II:7).


Genetic dosage and position effect of small supernumerary marker chromosome (sSMC) in human sperm nuclei in infertile male patient.

Olszewska M, Wanowska E, Kishore A, Huleyuk N, Georgiadis AP, Yatsenko AN, Mikula M, Zastavna D, Wiland E, Kurpisz M - Sci Rep (2015)

The family pedigree of the infertile sSMC carrier (II:5) karyotyped as 47,XY,+der(15)(pter->p11.2::q11.1->q11.2::p11.2->pter)mat.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4663790&req=5

f4: The family pedigree of the infertile sSMC carrier (II:5) karyotyped as 47,XY,+der(15)(pter->p11.2::q11.1->q11.2::p11.2->pter)mat.
Mentions: The family pedigree of the investigated sSMC case is shown in Fig. 4. The material for the analyses consisted of peripheral blood lymphocytes and spermatozoa from a 30-year old carrier (II:5) of marker chromosome 47,XY,+mar inherited maternally (I:3). The spermiogram exhibited decreased concentration, morphology and motility (moderate oligoasthenoteratozoospermia, OAT; with sperm concentration 10 × 106/ml) (according to WHO, 201057). The carrier presented a lack of conception over a 7-year period, though his wife (II:6) had normal karyotype and a healthy daughter (III:3) with another partner (II:7).

Bottom Line: The molecular cytogenetic characteristics of sSMC delineated the karyotype as 47,XY,+der(15)(pter->p11.2::q11.1->q11.2::p11.2->pter)mat.Importantly, we found significant repositioning of chromosomes X and Y towards the nuclear periphery, where both chromosomes were localized in close proximity to the sSMC.This suggests the possible influence of sSMC/XY colocalization on meiotic chromosome division, resulting in abnormal chromosome segregation, and leading to male infertility in the patient.

View Article: PubMed Central - PubMed

Affiliation: Institute of Human Genetics, Polish Academy of Sciences, Department of Reproductive Biology and Stem Cells, Strzeszynska 32, 60-479 Poznan, Poland.

ABSTRACT
Chromosomes occupy specific distinct areas in the nucleus of the sperm cell that may be altered in males with disrupted spermatogenesis. Here, we present alterations in the positioning of the human chromosomes 15, 18, X and Y between spermatozoa with the small supernumerary marker chromosome (sSMC; sSMC(+)) and spermatozoa with normal chromosome complement (sSMC(-)), for the first time described in the same ejaculate of an infertile, phenotypically normal male patient. Using classical and confocal fluorescent microscopy, the nuclear colocalization of chromosomes 15 and sSMC was analyzed. The molecular cytogenetic characteristics of sSMC delineated the karyotype as 47,XY,+der(15)(pter->p11.2::q11.1->q11.2::p11.2->pter)mat. Analysis of meiotic segregation showed a 1:1 ratio of sSMC(+) to sSMC(-) spermatozoa, while evaluation of sperm aneuploidy status indicated an increased level of chromosome 13, 18, 21 and 22 disomy, up to 7 × (2.7 - 15.1). Sperm chromatin integrity assessment did not reveal any increase in deprotamination in the patient's sperm chromatin. Importantly, we found significant repositioning of chromosomes X and Y towards the nuclear periphery, where both chromosomes were localized in close proximity to the sSMC. This suggests the possible influence of sSMC/XY colocalization on meiotic chromosome division, resulting in abnormal chromosome segregation, and leading to male infertility in the patient.

No MeSH data available.


Related in: MedlinePlus