Identification and characterization of two polymorphic Ya5 Alu repeats

Santosh S. Arcot; Margaret M. DeAngelis; Stephen T. Sherry; Aaron W. Adamson; Jane E. Lamerdin; Prescott L. Deininger; Anthony V. Carrano; Mark A. Batzer

doi:10.1016/S1383-5726(97)00002-2

Identification and characterization of two polymorphic Ya5 Alu repeats

Santosh S. Arcot
, Margaret M. DeAngelis
, Stephen T. Sherry
, Aaron W. Adamson
, Jane E. Lamerdin
, Prescott L. Deininger
, Anthony V. Carrano
, Mark A. Batzer

Department of Ophthalmology

Lawrence Livermore National Laboratory
Thermo Fisher Scientific, Inc.
University Medical Center New Orleans
Louisiana State University Health Sciences Center
Ochsner Health System

Research output: Contribution to journal › Article › peer-review

16 Scopus citations

Abstract

Two new polymorphic Alu elements (HS2.25 and HS4.14) belonging to the young (Ya5/8) subfamily of human-specific Alu repeats have been identified. DNA sequence analysis of both Alu repeats revealed that each Alu repeat had a long 3'-oligo-dA-rich tail (41 and 52 nucleotides in length) and a low level of random mutations. HS2.25 and HS4.14 were flanked by short precise direct repeats of 8 and 14 nucleotides in length, respectively. HS2.25 was located on human chromosome 13, and HS4.14 on chromosome 1. Both Alu elements were absent from the orthologous positions within the genomes of non-human primates, and were highly polymorphic in a survey of twelve geographically diverse human groups.

Original language	English
Pages (from-to)	5-11
Number of pages	7
Journal	Mutation Research - Mutation Research Genomics
Volume	382
Issue number	1-2
DOIs	https://doi.org/10.1016/S1383-5726(97)00002-2
State	Published - Sep 1997

Keywords

Genetic variation
Human-specific
Insertion polymorphism
Mobile elements

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10.1016/S1383-5726(97)00002-2

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title = "Identification and characterization of two polymorphic Ya5 Alu repeats",

abstract = "Two new polymorphic Alu elements (HS2.25 and HS4.14) belonging to the young (Ya5/8) subfamily of human-specific Alu repeats have been identified. DNA sequence analysis of both Alu repeats revealed that each Alu repeat had a long 3'-oligo-dA-rich tail (41 and 52 nucleotides in length) and a low level of random mutations. HS2.25 and HS4.14 were flanked by short precise direct repeats of 8 and 14 nucleotides in length, respectively. HS2.25 was located on human chromosome 13, and HS4.14 on chromosome 1. Both Alu elements were absent from the orthologous positions within the genomes of non-human primates, and were highly polymorphic in a survey of twelve geographically diverse human groups.",

keywords = "Genetic variation, Human-specific, Insertion polymorphism, Mobile elements",

author = "Arcot, \{Santosh S.\} and DeAngelis, \{Margaret M.\} and Sherry, \{Stephen T.\} and Adamson, \{Aaron W.\} and Lamerdin, \{Jane E.\} and Deininger, \{Prescott L.\} and Carrano, \{Anthony V.\} and Batzer, \{Mark A.\}",

year = "1997",

month = sep,

doi = "10.1016/S1383-5726(97)00002-2",

language = "English",

volume = "382",

pages = "5--11",

journal = "Mutation Research - Mutation Research Genomics",

issn = "1383-5726",

publisher = "Elsevier B.V.",

number = "1-2",

}

TY - JOUR

T1 - Identification and characterization of two polymorphic Ya5 Alu repeats

AU - Arcot, Santosh S.

AU - DeAngelis, Margaret M.

AU - Sherry, Stephen T.

AU - Adamson, Aaron W.

AU - Lamerdin, Jane E.

AU - Deininger, Prescott L.

AU - Carrano, Anthony V.

AU - Batzer, Mark A.

PY - 1997/9

Y1 - 1997/9

N2 - Two new polymorphic Alu elements (HS2.25 and HS4.14) belonging to the young (Ya5/8) subfamily of human-specific Alu repeats have been identified. DNA sequence analysis of both Alu repeats revealed that each Alu repeat had a long 3'-oligo-dA-rich tail (41 and 52 nucleotides in length) and a low level of random mutations. HS2.25 and HS4.14 were flanked by short precise direct repeats of 8 and 14 nucleotides in length, respectively. HS2.25 was located on human chromosome 13, and HS4.14 on chromosome 1. Both Alu elements were absent from the orthologous positions within the genomes of non-human primates, and were highly polymorphic in a survey of twelve geographically diverse human groups.

AB - Two new polymorphic Alu elements (HS2.25 and HS4.14) belonging to the young (Ya5/8) subfamily of human-specific Alu repeats have been identified. DNA sequence analysis of both Alu repeats revealed that each Alu repeat had a long 3'-oligo-dA-rich tail (41 and 52 nucleotides in length) and a low level of random mutations. HS2.25 and HS4.14 were flanked by short precise direct repeats of 8 and 14 nucleotides in length, respectively. HS2.25 was located on human chromosome 13, and HS4.14 on chromosome 1. Both Alu elements were absent from the orthologous positions within the genomes of non-human primates, and were highly polymorphic in a survey of twelve geographically diverse human groups.

KW - Genetic variation

KW - Human-specific

KW - Insertion polymorphism

KW - Mobile elements

UR - https://www.scopus.com/pages/publications/0031224985

U2 - 10.1016/S1383-5726(97)00002-2

DO - 10.1016/S1383-5726(97)00002-2

M3 - Article

C2 - 9360633

AN - SCOPUS:0031224985

SN - 1383-5726

VL - 382

SP - 5

EP - 11

JO - Mutation Research - Mutation Research Genomics

JF - Mutation Research - Mutation Research Genomics

IS - 1-2

ER -

Identification and characterization of two polymorphic Ya5 Alu repeats

Abstract

Keywords

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