Copy number variation-based polymorphism in a new pseudoautosomal region 3 (PAR3) of a human X-chromosome-transposed region (XTR) in the y chromosome

Veerappa, A. M. and Padakannaya, P. and Ramachandra, N. B. (2013) Copy number variation-based polymorphism in a new pseudoautosomal region 3 (PAR3) of a human X-chromosome-transposed region (XTR) in the y chromosome. Functional and Integrative Genomics, 13 (3). pp. 285-293. ISSN 1438-793X

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Abstract

A 3.5-Mb region of the X chromosome underwent duplication and transposition to the Y chromosome �5-6 Mya. This X-transposed-region (XTR) originated at Xq21.3 and was inserted at Yp11.2. The two locations have 98.78 % homology and a high concentration of tandem repeats. In whole-genome scans of ten large families with dyslexic members, we identified transposed blocks comprising \textgreater102 kb of the Yp11.2 region in its homologous region at Xq21.3 in three females from three different families. Although recombination is known to be limited only to the pseudoautosomal regions (PARs) of the X and Y chromosomes, we report allelic unequal recombination between the XTR region Yp11.2 and Xq21.3, indicating the presence of a new PAR, which we named PAR3. This PAR3 region was also found in 2 % of the general population. An additional layer of justification could be provided from six other dyslexic cases which harbored duplications and deletions in the same Xq21.3 and Yp11.2 regions through allelic unequal recombination.

Item Type:	Article
Uncontrolled Keywords:	article, chromosome deletion, chromosome duplication, chromosome structure, Chromosomes, clinical article, controlled study, copy number variation, DNA Copy Number Variations, DNA transposition, dyslexia, Dyslexia, Evolution, female, Female, Genes, genetic analysis, genetic polymorphism, genetic recombination, human, Human, Humans, male, Molecular, Mya, Pedigree, priority journal, pseudoautosomal region 3, X, X chromosome, X chromosome transposed region, X-Linked, Y, Y chromosome
Subjects:	A Arts and Humanities > Psychology B Life Science > Zoology
Divisions:	Department of > Psychology Department of > Zoology
Depositing User:	Arshiya Kousar Library Assistant
Date Deposited:	18 Nov 2019 06:28
Last Modified:	18 Nov 2019 06:28
URI:	http://eprints.uni-mysore.ac.in/id/eprint/9579

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