scholarly journals Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family

2021 ◽  
Author(s):  
Fozia Fozia ◽  
Khadim Shah ◽  
Rubina Nazli ◽  
Sher Alam Khan ◽  
Ijaz Ahmad ◽  
...  
Keyword(s):  
Consanguineous Family ◽  
Site Mutation ◽  
Splicing Site

A novel splice site mutation in gene C2orf37 underlying Woodhouse–Sakati syndrome (WSS) in a consanguineous family of Pakistani origin

Gene ◽  
2011 ◽  
Vol 490 (1-2) ◽  
pp. 26-31 ◽  
Author(s):  
Rabia Habib ◽  
Sulman Basit ◽  
Saadullah Khan ◽  
Muhammad Nasim Khan ◽  
Wasim Ahmad
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Consanguineous Family ◽  
Site Mutation ◽  
Pakistani Origin

Genetic Analysis, Expression and Molecular Characterization of BoGSL-ELONG, a Major Gene Involved in the Aliphatic Glucosinolate Pathway of Brassica Species

Genetics ◽  
2002 ◽  
Vol 162 (4) ◽  
pp. 1937-1943
Author(s):  
Genyi Li ◽  
Carlos F Quiros
Keyword(s):  
Gene Expression ◽  
Gene Expression Analysis ◽  
Major Gene ◽  
Brassica Species ◽  
Sequence Database ◽  
Rt Pcr ◽  
Site Mutation ◽  
Splicing Site ◽  
Aliphatic Glucosinolate

Abstract We cloned a major aliphatic glucosinolate (GSL) gene, BoGSL-ELONG in Brassica oleracea, using the Arabidopsis sequence database. We based our work on an Arabidopsis candidate gene forming part of a gene family coding for isopropyl malate synthetase-like enzymes (IPMS). This gene is presumably responsible for synthesis of GSL possessing side chains consisting of four carbons (4C). The similarity of the Brassica homolog IPMS-Bo from broccoli to its Arabidopsis counterpart IPMS-At was on the order of 78%, both sharing the same number of exons. A nonfunctional allele of the BoGSL-ELONG gene from white cauliflower, based on the absence of 4C GSL in this crop, displayed a 30-bp deletion, which allowed us to develop a codominant marker for 4C-GSL. Gene expression analysis based on RT-PCR revealed a splicing site mutation in the white cauliflower allele. This resulted in a longer transcript containing intron 3, which failed to excise. Perfect cosegregation was observed for broccoli and cauliflower alleles at the IPMS-Bo gene and 4C-GSL content, strongly indicating that this gene indeed corresponds to BoGSL-ELONG. Cloning of two other major genes, BoGSL-ALK and BoGSL-PRO, is underway. The availability of these genes and BoGSL-ELONG is essential for the manipulation of the aliphatic GSL profile of B. oleracea.

An M1AP homozygous splice‐site mutation associated with severe oligozoospermia in a consanguineous family

2020 ◽  
Vol 97 (5) ◽  
pp. 741-746
Author(s):  
Chaofeng Tu ◽  
Ying Wang ◽  
Hongchuan Nie ◽  
Lanlan Meng ◽  
Weili Wang ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Consanguineous Family ◽  
Site Mutation ◽  
Severe Oligozoospermia

A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis

2005 ◽  
Vol 14 (12) ◽  
pp. 891-897 ◽  
Author(s):  
Liran Horev ◽  
Tamara Potikha ◽  
Sharon Ayalon ◽  
Vered Molho-Pessach ◽  
Arieh Ingber ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Consanguineous Family ◽  
Site Mutation ◽  
Lipoid Proteinosis
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