Isolation of an active human transposable element

Beth A. Dombroski; Stephen L. Mathias; Elizabeth Nanthakumar; Alan F. Scott; Haig H. Kazazian

doi:10.1126/science.1662412

Isolation of an active human transposable element

Beth A. Dombroski, Stephen L. Mathias, Elizabeth Nanthakumar, Alan F. Scott, Haig H. Kazazian

School of Medicine

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

338 Scopus citations

Abstract

Two de novo insertions of truncated L1 elements into the factor VIII gene on the X chromosome have been identified that produced hemophilia A. A full-length L1 element that is the likely progenitor of one of these insertions was isolated by its sequence identity to the factor VIII insertion. This L1 element contains two open-reading frames and is one of at least four alleles of a locus on chromosome 22 that has been occupied by an L1 element for at least 6 million years.

Original language	English (US)
Pages (from-to)	1805-1808
Number of pages	4
Journal	Science
Volume	254
Issue number	5039
DOIs	https://doi.org/10.1126/science.1662412
State	Published - Jan 1 1991

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title = "Isolation of an active human transposable element",

abstract = "Two de novo insertions of truncated L1 elements into the factor VIII gene on the X chromosome have been identified that produced hemophilia A. A full-length L1 element that is the likely progenitor of one of these insertions was isolated by its sequence identity to the factor VIII insertion. This L1 element contains two open-reading frames and is one of at least four alleles of a locus on chromosome 22 that has been occupied by an L1 element for at least 6 million years.",

author = "Dombroski, {Beth A.} and Mathias, {Stephen L.} and Elizabeth Nanthakumar and Scott, {Alan F.} and Kazazian, {Haig H.}",

year = "1991",

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T1 - Isolation of an active human transposable element

AU - Dombroski, Beth A.

AU - Mathias, Stephen L.

AU - Nanthakumar, Elizabeth

AU - Scott, Alan F.

AU - Kazazian, Haig H.

PY - 1991/1/1

Y1 - 1991/1/1

N2 - Two de novo insertions of truncated L1 elements into the factor VIII gene on the X chromosome have been identified that produced hemophilia A. A full-length L1 element that is the likely progenitor of one of these insertions was isolated by its sequence identity to the factor VIII insertion. This L1 element contains two open-reading frames and is one of at least four alleles of a locus on chromosome 22 that has been occupied by an L1 element for at least 6 million years.

AB - Two de novo insertions of truncated L1 elements into the factor VIII gene on the X chromosome have been identified that produced hemophilia A. A full-length L1 element that is the likely progenitor of one of these insertions was isolated by its sequence identity to the factor VIII insertion. This L1 element contains two open-reading frames and is one of at least four alleles of a locus on chromosome 22 that has been occupied by an L1 element for at least 6 million years.

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JO - Science

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Isolation of an active human transposable element

Abstract

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