NDLI: Hierarchical radial and polar organisation of chromosomes in human sperm

Content Provider	Springer Nature Link
Author	Millan, N. M. Lau, P. Hann, M. Ioanu, D. Hoffman, D. Barrionuevo, M. Maxson, W. Ory, S. Tempest, H. G.
Copyright Year	2012
Abstract	It is well established that chromosomes occupy distinct positions within the interphase nuclei, conferring a potential functional implication to the genome. In addition, alterations in the nuclear organisation patterns have been associated with disease phenotypes (e.g. cancer or laminopathies). The human sperm is the smallest cell in the body with specific DNA packaging and the mission of delivering the paternal genome to the oocyte during fertilisation. Studies of nuclear organisation in the sperm have postulated nonrandom chromosome position and have proposed a chromocentre model with the centromeres facing toward the interior and the telomeres toward the periphery of the nucleus. Most studies have assessed the nuclear address in the sperm longitudinally predominantly using centromeric or telomeric probes and to a lesser extent with whole chromosome paints. To date, studies investigating the radial organisation of human sperm have been limited. The purpose of this study was to utilise whole chromosome paints for six clinically important chromosomes (18, 19, 21, 22, X, and Y) to investigate nuclear address by assessing their radial and longitudinal nuclear organisation. A total of 10,800 sperm were analysed in nine normozoospermic individuals. The results have shown nonrandom chromosome position for all chromosomes using both methods of analysis. We present novel radial and polar analysis of chromosome territory localization within the human sperm nucleus. Specifically, a hierarchical organisation was observed radially with chromosomes organised from the interior to the periphery (chromosomes 22, 21, Y, X, 19, and 18 respectively) and polar organisation from the sperm head to tail (chromosomes X, 19, Y, 22, 21, and 18, respectively). We provide evidence of defined nuclear organisation in the human sperm and discuss the function of organisation and potential possible clinical ramifications of these results in regards to male infertility and early human development.
Starting Page	875
Ending Page	887
Page Count	13
File Format	PDF
ISSN	09673849
Journal	Chromosome Research
Volume Number	20
Issue Number	7
e-ISSN	15736849
Language	English
Publisher	Springer Netherlands
Publisher Date	2012-11-10
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Spermatogenesis Chromosome territory Nuclear organisation FISH Cell Biology Human Genetics Animal Genetics and Genomics Plant Genetics & Genomics
Content Type	Text
Resource Type	Article
Subject	Genetics

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