NDLI: Duplication and transposition of the NF1 pseudogene regions on chromosomes 2, 14, and 22

Content Provider	Springer Nature Link
Author	Luijten, Mirjam Redeker, Sandra Mishima, Shinsei Shimizu, buyoshi Westerveld, Andries Hulsebos, Theo J.
Copyright Year	2001
Abstract	Numerous NF1 pseudogenes have been identified in the human genome. Those in 2q21, 14q11, and 22q11 form a subset with a similar genomic organization and a high sequence homology. We have studied, by polymerase chain reaction and fluorescence in situ hybridization, the extent of homology of the regions surrounding these NF1 pseudogenes. Our analyses have demonstrated that a fragment of at least 640 kb is homologous between the three regions. Based on previous studies and these new findings, we propose a model for the spreading of the NF1 pseudogene-containing regions. A fragment of ~640 kb was first duplicated in chromosome region 2q21 and transposed to 14q11. Subsequently, this fragment was duplicated in 14q11 and transposed to 22q11. A part of the 640-kb fragment in 14q11, with a length of about 430 kb, was further duplicated to a variable extent in 14q11. In addition, we have identified sequences that may facilitate the duplication and transposition of the 640-kb and 430-kb fragments.
Starting Page	109
Ending Page	116
Page Count	8
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	109
Issue Number	1
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2014-02-12
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Human Genetics Molecular Medicine Gene Function Metabolic Diseases
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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