Behaviour of human heterochromatic regions during the synapsis of homologous chromosomes

Codina, Montserrat; Navarro, J.; Oliver-Bonet, María; Kraus, Jürgen; Speicher, Michael R.; Arango, O.; Egozcue, J.; Benet, Jordi

doi:10.1093/humrep/del028

Cited by 64 publications

(57 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…These regions are the last to enter synapse, changing the timing of the whole division and leading first to probable meiotic defects, eventually to infertility [15]. As for our cases, although we detected an increased ratio of heteromorphisms, it is not easy to regard the heteromorphisms as the sole reason for infertility and we believe this is rather coexistence than a correlation.…”

Section: Discussionsupporting

confidence: 45%

Chromosome heteromorphisms: an impact on infertility

Şahin

Yılmaz

Yüreğir

et al. 2008

J Assist Reprod Genet

View full text Add to dashboard Cite

Introduction Cytogenetic heteromorphisms are described as heritable variations at specific chromosomal regions without a proven impact on phenotype. Materials and methods We compared the presence of chromosome heteromorphisms in the karyotypes of two patient groups. The first group of patients consisted of 276 individuals of 138 infertile couples. The second group, consisted of 1,130 amniocentesis samples. This group was considered to be a sample of the fertile population, as the fetus being karyotyped is the result of a spontaneous pregnancy. Fetal karyotyping was made due to the standard indications for prenatal diagnosis, such as abnormal maternal serum screening results. Results and discussion Eighteen infertile patients (6.52%) and twenty fetuses (1.77%) were found to have chromosome heteromorphisms. The difference between the two groups was statistically significant (p<0.0001). ConclusionThese results are consistent with other similar studies that suggest the yet undefined relationship between chromosome heteromorphisms and infertility.

show abstract

Section: Discussionsupporting

confidence: 45%

Chromosome heteromorphisms: an impact on infertility

Şahin

Yılmaz

Yüreğir

et al. 2008

J Assist Reprod Genet

View full text Add to dashboard Cite

show abstract

“…Chromosome 9 exhibits the highest degree of morphological variations and the incidence of an elongation of the heterochromatin 9qh+ is estimated to be 6-8% in the general population [44,45]. This variant chromosome was found in 5% of the infertile men and in 13.4% of those possessing heteromorphisms in the present study.…”

Section: Discussionsupporting

confidence: 50%

Chromosomal Abnormalities in Infertile Men from Southern India

Suganya

Kujur

Selvaraj³

et al. 2015

JCDR

View full text Add to dashboard Cite

Background and Objective: Male infertility has been associated with aneuploidies and structural chromosomal abnormalities, Yq microdeletions and specific gene mutations and/or polymorphisms. Besides genetic factors, any block in sperm delivery, endocrine disorders, testicular tumours, infectious diseases, medications, lifestyle factors and environmental toxins can also play a causative role. This study aimed to determine the constitutional karyotype in infertile males having normal female partners in a south Indian population. Materials and Methods:A total of 180 men with a complaint of primary infertility ranging from 1 to 25 years were screened for chromosomal abnormalities through conventional analysis of GTG-banded metaphases from cultured lymphocytes.Results: Four individuals were diagnosed to have Klinefelter syndrome. Two cases exhibited reciprocal translocations and one showed a maternally inherited insertion. Polymorphisms were seen in sixty-seven patients (37.2%).

show abstract

“…As discussed earlier, SC anomalies such as gaps and splits are significantly more common in infertile patients than case controls [Gonsalves et al 2004;Sun et al 2004;Sun et al 2005a;Codina-Pascual et al 2006;Topping et al 2006]. Meiotic arrest, due to SC fragmentation or improper assembly usually occurs in the zygotene stage when all parts of the SC should be present, but can sometimes occur as late as the pachytene stage [Yuan et al 2000;Miyamoto et al 2003;Judis et al 2004;de Vries et al 2005].…”

Section: Synaptonemal Complexmentioning

confidence: 96%

“…Although meiotic chromosomes from both obstructive and non-obstructive azoospermic patients are able to synapse, there is an increase in the number of gaps and splits in synaptonemal complexes in spermatocytes from these men [Gonsalves et al 2004;Sun et al 2004b;2005a;Codina-Pascual et al 2006;Topping et al 2006]. These gaps and splits are often found in noncentromeric heterochromatic regions, which are transcriptionally and recombinationally inactive, and interfere with the placement and number of crossover foci, by a mechanism that is not yet understood [Sun et al 2005b;Codina-Pascual et al 2006]. These heterochromatic regions are the last to synapse in both controls and infertile patients [Codina-Pascual et al 2006], which could suggest inefficient checkpoint activation in some infertile patients.…”

Section: Introductionmentioning

confidence: 99%

“…These gaps and splits are often found in noncentromeric heterochromatic regions, which are transcriptionally and recombinationally inactive, and interfere with the placement and number of crossover foci, by a mechanism that is not yet understood [Sun et al 2005b;Codina-Pascual et al 2006]. These heterochromatic regions are the last to synapse in both controls and infertile patients [Codina-Pascual et al 2006], which could suggest inefficient checkpoint activation in some infertile patients.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Proteins Involved in Meiotic Recombination: A Role in Male Infertility?

Sanderson

Hassold

Carrell

2008

Systems Biology in Reproductive Medicine

View full text Add to dashboard Cite

Meiotic recombination results in the formation of crossovers, by which genetic information is exchanged between homologous chromosomes during prophase I of meiosis. Recombination is a complex process involving many proteins. Alterations in the genes involved in recombination may result in infertility. Molecular studies have improved our understanding of the roles and mechanisms of the proteins and protein complexes involved in recombination, some of which have function in mitotic cells as well as meiotic cells. Human gene sequencing studies have been performed for some of these genes and have provided further information on the phenotypes observed in some infertile individuals. However, further studies are needed to help elucidate the particular role(s) of a given protein and to increase our understanding of these protein systems. This review will focus on our current understanding of proteins involved in meiotic recombination from a genomic perspective, summarizing our current understanding of known mutations and single nucleotide polymorphisms that may affect male fertility by altering meiotic recombination.

show abstract

Behaviour of human heterochromatic regions during the synapsis of homologous chromosomes

Cited by 64 publications

References 25 publications

Chromosome heteromorphisms: an impact on infertility

Chromosome heteromorphisms: an impact on infertility

Chromosomal Abnormalities in Infertile Men from Southern India

Proteins Involved in Meiotic Recombination: A Role in Male Infertility?

Contact Info

Product

Resources

About