Neurodevelopmental MACPFs

The vertebrate astrotactins and BRINPs

Susan R. Berkowicz, Aminah Giousoh, Phillip I. Bird

Research output: Contribution to journalArticleResearchpeer-review

2 Citations (Scopus)

Abstract

Astrotactins (ASTNs) and Bone morphogenetic protein/retinoic acid inducible neural-specific proteins (BRINPs) are two groups of Membrane Attack Complex/Perforin (MACPF) superfamily proteins that show overlapping expression in the developing and mature vertebrate nervous system. ASTN(1-2) and BRINP(1-3) genes are found at conserved loci in humans that have been implicated in neurodevelopmental disorders (NDDs).Here we review the tissue distribution and cellular localization of these proteins, and discuss recent studies that provide insight into their structure and interactions. We highlight the genetic relationships and co-expression of Brinps and Astns; and review recent knock-out mouse phenotypes that indicate a possible overlap in protein function between ASTNs and BRINPs.

Original languageEnglish
Pages (from-to)171-181
Number of pages11
JournalSeminars in Cell and Developmental Biology
Volume72
DOIs
Publication statusPublished - Dec 2017

Keywords

  • ASTN1
  • ASTN2
  • BRINP1
  • BRINP2
  • BRINP3
  • MACPF domain

Cite this

@article{c236472767f14f8cb4a85b639553d8ca,
title = "Neurodevelopmental MACPFs: The vertebrate astrotactins and BRINPs",
abstract = "Astrotactins (ASTNs) and Bone morphogenetic protein/retinoic acid inducible neural-specific proteins (BRINPs) are two groups of Membrane Attack Complex/Perforin (MACPF) superfamily proteins that show overlapping expression in the developing and mature vertebrate nervous system. ASTN(1-2) and BRINP(1-3) genes are found at conserved loci in humans that have been implicated in neurodevelopmental disorders (NDDs).Here we review the tissue distribution and cellular localization of these proteins, and discuss recent studies that provide insight into their structure and interactions. We highlight the genetic relationships and co-expression of Brinps and Astns; and review recent knock-out mouse phenotypes that indicate a possible overlap in protein function between ASTNs and BRINPs.",
keywords = "ASTN1, ASTN2, BRINP1, BRINP2, BRINP3, MACPF domain",
author = "Berkowicz, {Susan R.} and Aminah Giousoh and Bird, {Phillip I.}",
year = "2017",
month = "12",
doi = "10.1016/j.semcdb.2017.05.005",
language = "English",
volume = "72",
pages = "171--181",
journal = "Seminars in Cell and Developmental Biology",
issn = "1084-9521",
publisher = "Elsevier",

}

Neurodevelopmental MACPFs : The vertebrate astrotactins and BRINPs. / Berkowicz, Susan R.; Giousoh, Aminah; Bird, Phillip I.

In: Seminars in Cell and Developmental Biology, Vol. 72, 12.2017, p. 171-181.

Research output: Contribution to journalArticleResearchpeer-review

TY - JOUR

T1 - Neurodevelopmental MACPFs

T2 - The vertebrate astrotactins and BRINPs

AU - Berkowicz, Susan R.

AU - Giousoh, Aminah

AU - Bird, Phillip I.

PY - 2017/12

Y1 - 2017/12

N2 - Astrotactins (ASTNs) and Bone morphogenetic protein/retinoic acid inducible neural-specific proteins (BRINPs) are two groups of Membrane Attack Complex/Perforin (MACPF) superfamily proteins that show overlapping expression in the developing and mature vertebrate nervous system. ASTN(1-2) and BRINP(1-3) genes are found at conserved loci in humans that have been implicated in neurodevelopmental disorders (NDDs).Here we review the tissue distribution and cellular localization of these proteins, and discuss recent studies that provide insight into their structure and interactions. We highlight the genetic relationships and co-expression of Brinps and Astns; and review recent knock-out mouse phenotypes that indicate a possible overlap in protein function between ASTNs and BRINPs.

AB - Astrotactins (ASTNs) and Bone morphogenetic protein/retinoic acid inducible neural-specific proteins (BRINPs) are two groups of Membrane Attack Complex/Perforin (MACPF) superfamily proteins that show overlapping expression in the developing and mature vertebrate nervous system. ASTN(1-2) and BRINP(1-3) genes are found at conserved loci in humans that have been implicated in neurodevelopmental disorders (NDDs).Here we review the tissue distribution and cellular localization of these proteins, and discuss recent studies that provide insight into their structure and interactions. We highlight the genetic relationships and co-expression of Brinps and Astns; and review recent knock-out mouse phenotypes that indicate a possible overlap in protein function between ASTNs and BRINPs.

KW - ASTN1

KW - ASTN2

KW - BRINP1

KW - BRINP2

KW - BRINP3

KW - MACPF domain

UR - http://www.scopus.com/inward/record.url?scp=85019954683&partnerID=8YFLogxK

U2 - 10.1016/j.semcdb.2017.05.005

DO - 10.1016/j.semcdb.2017.05.005

M3 - Article

VL - 72

SP - 171

EP - 181

JO - Seminars in Cell and Developmental Biology

JF - Seminars in Cell and Developmental Biology

SN - 1084-9521

ER -