Duplication and polymorphism in the MHC: Alu generated diversity and polymorphism within the PERB11 gene family

S. Gaudieri; Keith Giles; J.K. Kulski; R.L. Dawkins

doi:10.1111/j.1601-5223.1997.00037.x

Duplication and polymorphism in the MHC: Alu generated diversity and polymorphism within the PERB11 gene family

S. Gaudieri, Keith Giles, J.K. Kulski, R.L. Dawkins

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

27 Citations (Scopus)

Abstract

The PERB11 gene family has at least five members within the telomeric region of the MHC. The PERB11.1 and PERB11.2 genes are approximately 40 kb and 160 kb centromeric of HLA-B, respectively. Using continuous genomic sequence encompassing PERB11.1 and PERB11.2, we have found a large (approximately 25 kb) segmental duplication extending beyond the genes themselves and other potential coding sequences. The major difference between the segments are large indels which are predominantly Alu sequences. The Alu sequences within the duplicated segments have created diversity via the internal and 3' poly A-rich region. A sequence comparison of an Alu sequence between two different human ancestral haplotypes shows a high level of polymorphism, particularly in the poly A-rich regions. This study characterises the Alu sequences within the peri-PERB11.1 and peri-PERB11.2 duplicated segments in relation to diversity and polymorphism and as evolutionary markers.

Original language	English
Pages (from-to)	37-46
Journal	Hereditas
Volume	127
DOIs	https://doi.org/10.1111/j.1601-5223.1997.00037.x
Publication status	Published - 1997

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title = "Duplication and polymorphism in the MHC: Alu generated diversity and polymorphism within the PERB11 gene family",

abstract = "The PERB11 gene family has at least five members within the telomeric region of the MHC. The PERB11.1 and PERB11.2 genes are approximately 40 kb and 160 kb centromeric of HLA-B, respectively. Using continuous genomic sequence encompassing PERB11.1 and PERB11.2, we have found a large (approximately 25 kb) segmental duplication extending beyond the genes themselves and other potential coding sequences. The major difference between the segments are large indels which are predominantly Alu sequences. The Alu sequences within the duplicated segments have created diversity via the internal and 3' poly A-rich region. A sequence comparison of an Alu sequence between two different human ancestral haplotypes shows a high level of polymorphism, particularly in the poly A-rich regions. This study characterises the Alu sequences within the peri-PERB11.1 and peri-PERB11.2 duplicated segments in relation to diversity and polymorphism and as evolutionary markers.",

author = "S. Gaudieri and Keith Giles and J.K. Kulski and R.L. Dawkins",

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doi = "10.1111/j.1601-5223.1997.00037.x",

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pages = "37--46",

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T1 - Duplication and polymorphism in the MHC: Alu generated diversity and polymorphism within the PERB11 gene family

AU - Gaudieri, S.

AU - Giles, Keith

AU - Kulski, J.K.

AU - Dawkins, R.L.

PY - 1997

Y1 - 1997

N2 - The PERB11 gene family has at least five members within the telomeric region of the MHC. The PERB11.1 and PERB11.2 genes are approximately 40 kb and 160 kb centromeric of HLA-B, respectively. Using continuous genomic sequence encompassing PERB11.1 and PERB11.2, we have found a large (approximately 25 kb) segmental duplication extending beyond the genes themselves and other potential coding sequences. The major difference between the segments are large indels which are predominantly Alu sequences. The Alu sequences within the duplicated segments have created diversity via the internal and 3' poly A-rich region. A sequence comparison of an Alu sequence between two different human ancestral haplotypes shows a high level of polymorphism, particularly in the poly A-rich regions. This study characterises the Alu sequences within the peri-PERB11.1 and peri-PERB11.2 duplicated segments in relation to diversity and polymorphism and as evolutionary markers.

AB - The PERB11 gene family has at least five members within the telomeric region of the MHC. The PERB11.1 and PERB11.2 genes are approximately 40 kb and 160 kb centromeric of HLA-B, respectively. Using continuous genomic sequence encompassing PERB11.1 and PERB11.2, we have found a large (approximately 25 kb) segmental duplication extending beyond the genes themselves and other potential coding sequences. The major difference between the segments are large indels which are predominantly Alu sequences. The Alu sequences within the duplicated segments have created diversity via the internal and 3' poly A-rich region. A sequence comparison of an Alu sequence between two different human ancestral haplotypes shows a high level of polymorphism, particularly in the poly A-rich regions. This study characterises the Alu sequences within the peri-PERB11.1 and peri-PERB11.2 duplicated segments in relation to diversity and polymorphism and as evolutionary markers.

U2 - 10.1111/j.1601-5223.1997.00037.x

DO - 10.1111/j.1601-5223.1997.00037.x

M3 - Article

VL - 127

SP - 37

EP - 46

JO - Hereditas

JF - Hereditas

ER -

Duplication and polymorphism in the MHC: Alu generated diversity and polymorphism within the PERB11 gene family

Abstract

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