scholarly journals A Novel Gene Family NBPF: Intricate Structure Generated by Gene Duplications During Primate Evolution

2005 ◽  
Vol 22 (11) ◽  
pp. 2265-2274 ◽  
Author(s):  
Karl Vandepoele ◽  
Nadine Van Roy ◽  
Katrien Staes ◽  
Frank Speleman ◽  
Frans van Roy
Keyword(s):  
Gene Family ◽  
Primate Evolution ◽  
Gene Duplications ◽  
Novel Gene

Retroviral and pseudogene insertion sites reveal the lineage of human salivary and pancreatic amylase genes from a single gene during primate evolution

1990 ◽  
Vol 10 (6) ◽  
pp. 2513-2520
Author(s):  
L C Samuelson ◽  
K Wiebauer ◽  
C M Snow ◽  
M H Meisler
Keyword(s):  
Gene Family ◽  
Single Gene ◽  
Primate Evolution ◽  
Endogenous Retrovirus ◽  
Gene Copy ◽  
Nucleotide Sequence Analysis ◽  
Ancestral Gene ◽  
Molecular Events ◽  
Amylase Genes ◽  
History Of

We have analyzed the junction regions of inserted elements within the human amylase gene complex. This complex contains five genes which are expressed at high levels either in the pancreas or in the parotid gland. The proximal 5'-flanking regions of these genes contain two inserted elements. A gamma-actin pseudogene is located at a position 200 base pairs upstream of the first coding exon. All of the amylase genes contain this insert. The subsequent insertion of an endogenous retrovirus interrupted the gamma-actin pseudogene within its 3'-untranslated region. Nucleotide sequence analysis of the inserted elements associated with each of the five human amylase genes has revealed a series of molecular events during the recent history of this gene family. The data indicate that the entire gene family was generated during primate evolution from one ancestral gene copy and that the retroviral insertion activated a cryptic promoter.

scholarly journals Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family

2018 ◽  
Vol 115 (19) ◽  
pp. E4433-E4442 ◽  
Author(s):  
Stuart Cantsilieris ◽  
Bradley J. Nelson ◽  
John Huddleston ◽  
Carl Baker ◽  
Lana Harshman ◽  
...  
Keyword(s):  
Gene Family ◽  
Structural Variation ◽  
Disease Risk ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Primate Evolution ◽  
Factor H ◽  
Age Related Macular Degeneration ◽  
Complement Factor H ◽  
Complement Factor ◽  
Age Related

Structural variation and single-nucleotide variation of the complement factor H (CFH) gene family underlie several complex genetic diseases, including age-related macular degeneration (AMD) and atypical hemolytic uremic syndrome (AHUS). To understand its diversity and evolution, we performed high-quality sequencing of this ∼360-kbp locus in six primate lineages, including multiple human haplotypes. Comparative sequence analyses reveal two distinct periods of gene duplication leading to the emergence of fourCFH-related (CFHR) gene paralogs (CFHR2andCFHR4∼25–35 Mya andCFHR1andCFHR3∼7–13 Mya). Remarkably, all evolutionary breakpoints share a common ∼4.8-kbp segment corresponding to an ancestralCFHRgene promoter that has expanded independently throughout primate evolution. This segment is recurrently reused and juxtaposed with a donor duplication containing exons 8 and 9 from ancestralCFH, creating fourCFHRfusion genes that include lineage-specific members of the gene family. Combined analysis of >5,000 AMD cases and controls identifies a significant burden of a rare missense mutation that clusters at the N terminus ofCFH[P= 5.81 × 10−8, odds ratio (OR) = 9.8 (3.67-Infinity)]. A bipolar clustering pattern of rare nonsynonymous mutations in patients with AMD (P< 10−3) and AHUS (P= 0.0079) maps to functional domains that show evidence of positive selection during primate evolution. Our structural variation analysis in >2,400 individuals reveals five recurrent rearrangement breakpoints that show variable frequency among AMD cases and controls. These data suggest a dynamic and recurrent pattern of mutation critical to the emergence of newCFHRgenes but also in the predisposition to complex human genetic disease phenotypes.

The electroneutral cation-chloride cotransporters.

1998 ◽  
Vol 201 (14) ◽  
pp. 2091-2102 ◽  
Author(s):  
D B Mount ◽  
E Delpire ◽  
G Gamba ◽  
A E Hall ◽  
E Poch ◽  
...  
Keyword(s):  
Membrane Proteins ◽  
Gene Family ◽  
Molecular Identification ◽  
Membrane Topology ◽  
Cytoplasmic Domains ◽  
Transmembrane Segments ◽  
Novel Gene ◽  
Lower Eukaryotes ◽  
Homologous Genes ◽  
Cation Chloride Cotransporters

Electroneutral cation-chloride cotransporters are widely expressed and perform a variety of physiological roles. A novel gene family of five members, encompassing a Na+-Cl- transporter, two Na+-K+-2Cl- transporters and two K+-Cl- cotransporters, encodes these membrane proteins; homologous genes have also been identified in a prokaryote and a number of lower eukaryotes. The cotransporter proteins share a common predicted membrane topology, with twelve putative transmembrane segments flanked by long hydrophilic N- and C-terminal cytoplasmic domains. The molecular identification of these transporters has had a significant impact on the study of their function, regulation and pathophysiology.

scholarly journals Retroviral and pseudogene insertion sites reveal the lineage of human salivary and pancreatic amylase genes from a single gene during primate evolution.

1990 ◽  
Vol 10 (6) ◽  
pp. 2513-2520 ◽  
Author(s):  
L C Samuelson ◽  
K Wiebauer ◽  
C M Snow ◽  
M H Meisler
Keyword(s):  
Gene Family ◽  
Single Gene ◽  
Primate Evolution ◽  
Endogenous Retrovirus ◽  
Gene Copy ◽  
Nucleotide Sequence Analysis ◽  
Ancestral Gene ◽  
Molecular Events ◽  
Amylase Genes ◽  
History Of

We have analyzed the junction regions of inserted elements within the human amylase gene complex. This complex contains five genes which are expressed at high levels either in the pancreas or in the parotid gland. The proximal 5'-flanking regions of these genes contain two inserted elements. A gamma-actin pseudogene is located at a position 200 base pairs upstream of the first coding exon. All of the amylase genes contain this insert. The subsequent insertion of an endogenous retrovirus interrupted the gamma-actin pseudogene within its 3'-untranslated region. Nucleotide sequence analysis of the inserted elements associated with each of the five human amylase genes has revealed a series of molecular events during the recent history of this gene family. The data indicate that the entire gene family was generated during primate evolution from one ancestral gene copy and that the retroviral insertion activated a cryptic promoter.

scholarly journals Planarian cell number depends on blitzschnell, a novel gene family that balances cell proliferation and cell death

Development ◽  
2020 ◽  
Vol 147 (7) ◽  
pp. dev184044 ◽  
Author(s):  
Eudald Pascual-Carreras ◽  
Marta Marin-Barba ◽  
Carlos Herrera-Úbeda ◽  
Daniel Font-Martín ◽  
Kay Eckelt ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Cell Death ◽  
Gene Family ◽  
Cell Number ◽  
Novel Gene

scholarly journals GRIF-1 and OIP106, Members of a Novel Gene Family of Coiled-Coil Domain Proteins

2005 ◽  
Vol 280 (15) ◽  
pp. 14723-14732 ◽  
Author(s):  
Kieran Brickley ◽  
Miriam J. Smith ◽  
Mike Beck ◽  
F. Anne Stephenson
Keyword(s):  
Gene Family ◽  
Coiled Coil ◽  
Novel Gene ◽  
Coiled Coil Domain
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