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المؤلفRaudsepp, Terje
المؤلفChowdhary, Bhanu P.
تاريخ الإتاحة2021-09-08T06:49:48Z
تاريخ النشر2016
اسم المنشورCytogenetic and Genome Research
المصدرScopus
الرقم المعياري الدولي للكتاب14248581
معرّف المصادر الموحدhttp://dx.doi.org/10.1159/000443157
معرّف المصادر الموحدhttp://hdl.handle.net/10576/22940
الملخصThe pseudoautosomal region (PAR) is a unique segment of sequence homology between differentiated sex chromosomes where recombination occurs during meiosis. Molecular and functional properties of the PAR are distinctive from the autosomes and the remaining regions of the sex chromosomes. These include a higher rate of recombination than genome average, bias towards GC-substitutions and increased interindividual nucleotide divergence and mutations. As yet, the PAR has been physically demarcated in only 28 eutherian species representing 6 mammalian orders. Murid rodents have the smallest, gene-poorest and most diverged PARs. Other eutherian PARs are largely homologous but differ in size and gene content, being the smallest in equids and human/simian primates and much larger in other eutherians. Because pseudoautosomal genes escape X inactivation, their dosage changes with sex chromosome aneuploidies, whereas phenotypic effects of the latter depend on the size and gene content of the PAR. Thus, X monosomy is more viable in mice, humans and horses than in species with larger PARs. Presently, little is known about the functions of PAR genes in individual species, though human studies suggest their involvement in early embryonic development. The PAR is, thus, of evolutionary, genetic and biomedical significance and a 'research hotspot' in eutherian genomes. 2016 S. Karger AG, Basel.
راعي المشروعAcknowledgments This work was supported by grants from the USDA (2012-67015-19632), the Morris Animal Foundation (D09LA-004, D14LA-005) and the LINK Endowment Equine Foundation.
اللغةen
الناشرS. Karger AG
الموضوعComparative organization
Eutherian mammals
Haploinsufficiency
Pseudoautosomal genes
Pseudoautosomal region
Recombination
Sex chromosomes
X aneuploidy
العنوانThe eutherian pseudoautosomal region
النوعArticle Review
الصفحات81-94
رقم العدد2-3
رقم المجلد147
dc.accessType Open Access


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