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Cohesin and Human Diseases

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Gene Regulatory Sequences and Human Disease

Abstract

Cohesin is a four-protein complex capable of tethering sister chromatid strands together. With the help of multiple facilitating proteins, cohesin plays essential cellular functions in sister chromatid cohesion during mitosis and meiosis, DNA repair, gene expression, and maintaining 3-D genome organization. Cohesin is required for cell division, maintaining pluripotency of stem cells and ensuring normal organ development. Defective cohesin genes have been associated with several rare human developmental disorders including Cornelia de Lange syndrome and Roberts/SC phocomelia syndrome, as well as several malignancies. Here, we provide an overview of cohesion biology and our current understanding as to how cohesin defects cause human disorders.

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Abbreviations

ATM:

Ataxia telangiectasia mutated

ATR:

ATM- and Rad3-related

ATRX:

Thalassemia/mental retardation syndrome X-linked

BRCA1:

Breast cancer 1 early onset 1

CdLS:

Cornelia de Lange syndrome

Chk1:

Checkpoint kinase 1

Chl1:

PCNA and chromosome loss 1

CIN:

Chromosomal instability

CTCF:

CCCTC-binding factor

Ctf18:

Chromosome transmission fidelity 18

DDX11:

DEAD/H box polypeptide 11

DSB:

Double-strand break

EcR-B1:

Ecdysone receptor B1

EEG:

Electroencephalography

Elg1:

Enhanced level of genomic instability 1

FRAP:

Fluorescence recovery after photobleaching

GERD:

Gastroesophageal reflux disease

Hb H:

Hemoglobin H

HMR:

Hidden MAT Right

HP1γ:

Heterochromatin protein 1 γ

HR:

Heterochromatic repulsion

IFNG:

Interferon-gamma

MDC1:

Mediator of DNA damage checkpoint 1

NHEJ:

Nonhomologous end-joining

NIPBL:

Nipped-B homologue

PDS5:

Precocious dissociation of sisters 5

PP2A:

Protein phosphatase type A

PTTG:

Proto-oncogene pituitary tumor-transforming gene

RBS:

Roberts syndrome

RNF168:

Ring finger protein 168

SCC:

Sister chromatid cohesion

SMC:

Structural maintenance of chromosome

TH :

T helper

Wapl1:

Wings apart-like 1

WBS:

Warsaw breakage syndrome

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  1. Division of Human Genetics, The Children’s Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA, 19104, USA

    Dongbin Xu & Ian D. Krantz

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    Nadav Ahituv

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Xu, D., Krantz, I.D. (2012). Cohesin and Human Diseases. In: Ahituv, N. (eds) Gene Regulatory Sequences and Human Disease. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1683-8_11

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