SMIM1 at a glance; discovery, genetic basis, recent progress and perspectives

Yaw Aniweh; Prince B. Nyarko; Evelyn Quansah; Laty Gaye Thiam; Gordon A. Awandare

doi:10.1016/j.parepi.2019.e00101

SMIM1 at a glance; discovery, genetic basis, recent progress and perspectives

Yaw Aniweh
, Prince B. Nyarko
, Evelyn Quansah
, Laty Gaye Thiam
, Gordon A. Awandare

West African Center for Cell Biology of Infectious Pathogens

University of Ghana

Research output: Contribution to journal › Review article › peer-review

6 Citations (Scopus)

Abstract

Recent elucidation of the genetic basis of the Vel blood group system has offered the field of blood transfusion medicine an additional consideration in determining the causes of hemolytic reactions after a patient is transfused. The identification of the SMIM1 gene to be responsible for the Vel blood group allows molecular based tools to be developed to further dissect the function of this antigen. Genetic signatures such as the homozygous 17 bp deletion and the heterozygous 17 bp deletion in combination with other single nucleotide polymorphisms (SNPs) and insertion sequences regulate the expression level of the gene. With this knowledge, it is now possible to study this antigen in-depth.

Original language	English
Article number	e00101
Journal	Parasite Epidemiology and Control
Volume	5
DOIs	https://doi.org/10.1016/j.parepi.2019.e00101
Publication status	Published - May 2019

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Blood
Frameshift
Heterozygous
Nucleotides
Vel

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10.1016/j.parepi.2019.e00101

Cite this

@article{170508dc8e77477b97abfc218ec03728,

title = "SMIM1 at a glance; discovery, genetic basis, recent progress and perspectives",

abstract = "Recent elucidation of the genetic basis of the Vel blood group system has offered the field of blood transfusion medicine an additional consideration in determining the causes of hemolytic reactions after a patient is transfused. The identification of the SMIM1 gene to be responsible for the Vel blood group allows molecular based tools to be developed to further dissect the function of this antigen. Genetic signatures such as the homozygous 17 bp deletion and the heterozygous 17 bp deletion in combination with other single nucleotide polymorphisms (SNPs) and insertion sequences regulate the expression level of the gene. With this knowledge, it is now possible to study this antigen in-depth.",

keywords = "Blood, Frameshift, Heterozygous, Nucleotides, Vel",

author = "Yaw Aniweh and Nyarko, \{Prince B.\} and Evelyn Quansah and Thiam, \{Laty Gaye\} and Awandare, \{Gordon A.\}",

note = "Publisher Copyright: {\textcopyright} 2019",

year = "2019",

month = may,

doi = "10.1016/j.parepi.2019.e00101",

language = "English",

volume = "5",

journal = "Parasite Epidemiology and Control",

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T1 - SMIM1 at a glance; discovery, genetic basis, recent progress and perspectives

AU - Aniweh, Yaw

AU - Nyarko, Prince B.

AU - Quansah, Evelyn

AU - Thiam, Laty Gaye

AU - Awandare, Gordon A.

PY - 2019/5

Y1 - 2019/5

N2 - Recent elucidation of the genetic basis of the Vel blood group system has offered the field of blood transfusion medicine an additional consideration in determining the causes of hemolytic reactions after a patient is transfused. The identification of the SMIM1 gene to be responsible for the Vel blood group allows molecular based tools to be developed to further dissect the function of this antigen. Genetic signatures such as the homozygous 17 bp deletion and the heterozygous 17 bp deletion in combination with other single nucleotide polymorphisms (SNPs) and insertion sequences regulate the expression level of the gene. With this knowledge, it is now possible to study this antigen in-depth.

AB - Recent elucidation of the genetic basis of the Vel blood group system has offered the field of blood transfusion medicine an additional consideration in determining the causes of hemolytic reactions after a patient is transfused. The identification of the SMIM1 gene to be responsible for the Vel blood group allows molecular based tools to be developed to further dissect the function of this antigen. Genetic signatures such as the homozygous 17 bp deletion and the heterozygous 17 bp deletion in combination with other single nucleotide polymorphisms (SNPs) and insertion sequences regulate the expression level of the gene. With this knowledge, it is now possible to study this antigen in-depth.

KW - Blood

KW - Frameshift

KW - Heterozygous

KW - Nucleotides

KW - Vel

UR - https://www.scopus.com/pages/publications/85062639236

U2 - 10.1016/j.parepi.2019.e00101

DO - 10.1016/j.parepi.2019.e00101

M3 - Review article

AN - SCOPUS:85062639236

SN - 2405-6731

VL - 5

JO - Parasite Epidemiology and Control

JF - Parasite Epidemiology and Control

M1 - e00101

ER -

SMIM1 at a glance; discovery, genetic basis, recent progress and perspectives

Abstract

UN SDGs

Keywords

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