SpermatogenesisOnline 1.0

Tag Content
SG ID
SG00012126 
UniProt Accession
Theoretical PI
5.84  
Molecular Weight
541238 Da  
Genbank Nucleotide ID
Genbank Protein ID
Gene Name
Dnahc8 
Gene Synonyms/Alias
 
Protein Name
Dynein heavy chain 8, axonemal 
Protein Synonyms/Alias
Axonemal beta dynein heavy chain 8; Ciliary dynein heavy chain 8; 
Organism
Mus musculus (Mouse) 
NCBI Taxonomy ID
10090 
Chromosome Location
chr:17;30761299-31012209;1
View in Ensembl genome browser  
Function in Stage
Uncertain 
Function in Cell Type
Uncertain 
Probability (GAS) of Function in Spermatogenesis
0.966996212 
The probability was calculated by GAS algorithm, ranging from 0 to 1. The closer it is to 1, the more possibly it functions in spermatogenesis.
Description
Temporarily unavailable 
Abstract of related literatures
1. Homozygosity for the t haplotype allele of the testis-specifically expressed axonemal dynein heavy chain (axDHC) gene, Dnahc8, has been linked to male sterility resulting from aberrant sperm motility. However, the near absence of Dnahc8 expression has been associated with male sterility resulting from an early breakdown in sperm flagellar development. Although axDHCs are integral participants in flagellar motility, a role in flagellar morphogenesis has never been attributed to a member of this highly conserved gene family. To gain a better understanding of this presumed novel role for Dnahc8, we have studied the organization and expression of full-length Dnahc8(+) and Dnahc8(t) transcripts. Our results demonstrate the existence of at least two alternatively spliced, testis-specific Dnahc8 mRNAs transcribed from both the + and t alleles. A highly expressed isoform encodes a protein with significant homology nearly throughout to the gamma heavy chain of the Chlamydomonas axonemal outer arm dynein, while a more poorly expressed isoform codes for a protein whose sequence diverges significantly from that of other axDHCs at both its N and C termini. While in situ hybridization studies demonstrate that both mRNA species accumulate exclusively in mid to late spermatocytes, each isoform shows spatial independence. Additional experiments demonstrate the existence of a testis-expressed mRNA with no significant open reading frame, a portion of which is antisense to the 5'-untranslated region of the highly divergent Dnahc8 isoform. The cumulative data imply that Dnahc8 may have acquired functional plasticity in the testis through the tightly controlled expression of both typical and unusual isoforms. PMID: [12297094] 

2. This study describes comprehensive polling of transcription start and termination sites and analysis of previously unidentified full-length complementary DNAs derived from the mouse genome. We identify the 5' and 3' boundaries of 181,047 transcripts with extensive variation in transcripts arising from alternative promoter usage, splicing, and polyadenylation. There are 16,247 new mouse protein-coding transcripts, including 5154 encoding previously unidentified proteins. Genomic mapping of the transcriptome reveals transcriptional forests, with overlapping transcription on both strands, separated by deserts in which few transcripts are observed. The data provide a comprehensive platform for the comparative analysis of mammalian transcriptional regulation in differentiation and development. PMID: [16141072] 

3. The mouse (Mus musculus) is the premier animal model for understanding human disease and development. Here we show that a comprehensive understanding of mouse biology is only possible with the availability of a finished, high-quality genome assembly. The finished clone-based assembly of the mouse strain C57BL/6J reported here has over 175,000 fewer gaps and over 139 Mb more of novel sequence, compared with the earlier MGSCv3 draft genome assembly. In a comprehensive analysis of this revised genome sequence, we are now able to define 20,210 protein-coding genes, over a thousand more than predicted in the human genome (19,042 genes). In addition, we identified 439 long, non-protein-coding RNAs with evidence for transcribed orthologs in human. We analyzed the complex and repetitive landscape of 267 Mb of sequence that was missing or misassembled in the previously published assembly, and we provide insights into the reasons for its resistance to sequencing and assembly by whole-genome shotgun approaches. Duplicated regions within newly assembled sequence tend to be of more recent ancestry than duplicates in the published draft, correcting our initial understanding of recent evolution on the mouse lineage. These duplicates appear to be largely composed of sequence regions containing transposable elements and duplicated protein-coding genes; of these, some may be fixed in the mouse population, but at least 40% of segmentally duplicated sequences are copy number variable even among laboratory mouse strains. Mouse lineage-specific regions contain 3,767 genes drawn mainly from rapidly-changing gene families associated with reproductive functions. The finished mouse genome assembly, therefore, greatly improves our understanding of rodent-specific biology and allows the delineation of ancestral biological functions that are shared with human from derived functions that are not. PMID: [19468303] 

4. Poor sperm motility characterized by a distinct aberration in flagellar waveform known as "curlicue" is a hallmark of t haplotype (t) homozygous male sterility. Previous studies have localized "curlicue" and a flagellar developmental defect, "whipless", to the Hybrid Sterility 6 locus (Hst6), between the markers Pim1 and Crya1. More recent heterospecific breeding experiments between Mus spretus (Spretus) and Mus musculus domesticus (Domesticus) have mapped the primary source(s) of both "curlicue" and "whipless" to a small sub-locus of Hst6, Curlicue a (Ccua). Here we report the complete physical isolation of the Ccua locus and the identification of a candidate gene for expression of both "whipless" and "curlicue" at its proximal end, an axonemal dynein heavy chain gene, Dnahc8, formerly mapped by interspecific backcross analysis near Pim1. Dnahc8 mRNA expression commences in the Domesticus wild-type testis just prior to flagellar assembly and is testis-specific in the adult male. However, expression of Dnahc8 is not readily evident in the testis of either Spretus or "whipless" animals (Domesticus males homozygous for the Spretus allele of Dnahc8). Our results argue that Dnahc8 is fundamental to flagellar organization and function in Domesticus, but not Spretus, and suggest that Dnahc8 is integral to both Hst6- and t-specific male infertility. PMID: [10602986] 

5. Dynein heavy chains are involved in microtubule-dependent transport processes. While cytoplasmic dyneins are involved in chromosome or vesicle movement, axonemal dyneins are essential for motility of cilia and flagella. Here we report the isolation of dynein heavy chain (DHC)-like sequences in man and mouse. Using polymerase chain reaction and reverse-transcribed human and mouse testis RNA cDNA fragments encoding the conserved ATP binding region of dynein heavy chains were amplified. We identified 11 different mouse and eight human dynein-like sequences in testis which show high similarity to known dyneins of different species such as rat, sea urchin or green algae. Sequence similarities suggest that two of the mouse clones and one human clone encode putative cytoplasmic dynein heavy chains, whereas the other sequences show higher similarity to axonemal dyneins. Two of nine axonemal dynein isoforms identified in the mouse testis are more closely related to known outer arm dyneins, while seven clones seem to belong to the inner arm dynein group. Of the isolated human isoforms three clones were classified as outer arm and four clones as inner arm dynein heavy chains. Each of the DHC cDNAs corresponds to an individual gene as determined by Southern blot experiments. The alignment of the deduced protein sequences between human (HDHC) and mouse (MDHC) dynein fragments reveals higher similarity between single human and mouse sequences than between two sequences of the same species. Human and mouse cDNA fragments were used to isolate genomic clones. Two of these clones, gHDHC7 and gMDHC7, are homologous genes encoding axonemal inner arm dyneins. While the human clone is assigned to 3p21, the mouse gene maps to chromosome 14. PMID: [9373155] 

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Function
Force generating protein of respiratory cilia. Producesforce towards the minus ends of microtubules. Dynein has ATPaseactivity; the force-producing power stroke is thought to occur onrelease of ADP. Involved in sperm motility; implicated in spermflagellar assembly. 
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Subcellular Location
Cytoplasm, cytoskeleton, cilium axoneme. 
Tissue Specificity
Testis-specific. Accumulates exclusively inmid to late spermatocytes. 
Gene Ontology
GO IDGO termEvidence
GO:0035085 C:cilium axoneme IEA:UniProtKB-SubCell.
GO:0005737 C:cytoplasm IDA:MGI.
GO:0030286 C:dynein complex IEA:UniProtKB-KW.
GO:0005874 C:microtubule IEA:UniProtKB-KW.
GO:0009434 C:microtubule-based flagellum IDA:MGI.
GO:0005524 F:ATP binding IEA:UniProtKB-KW.
GO:0016887 F:ATPase activity IEA:InterPro.
GO:0003777 F:microtubule motor activity IEA:InterPro.
GO:0006200 P:ATP catabolic process IEA:GOC.
GO:0007018 P:microtubule-based movement IEA:InterPro.
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Interpro
IPR003593;    AAA+_ATPase.
IPR011704;    ATPase_dyneun-rel_AAA.
IPR024743;    Dynein_HC_stalk.
IPR004273;    Dynein_heavy.
IPR024317;    Dynein_heavy_chain_D4_dom.
IPR013594;    Dynein_heavy_dom-1.
IPR013602;    Dynein_heavy_dom-2.
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Pfam
PF07728;    AAA_5;    1.
PF12780;    AAA_8;    1.
PF08385;    DHC_N1;    1.
PF08393;    DHC_N2;    1.
PF03028;    Dynein_heavy;    1.
PF12777;    MT;    1.
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SMART
SM00382;    AAA;    3.
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PROSITE
PRINTS
Created Date
18-Oct-2012 
Record Type
GAS predicted 
Sequence Annotation
CHAIN         1   4731       Dynein heavy chain 8, axonemal.
                             /FTId=PRO_0000274045.
NP_BIND    2087   2094       ATP (Potential).
NP_BIND    2369   2376       ATP (Potential).
REGION     2049   2271       AAA 1 (By similarity).
REGION     2331   2550       AAA 2 (By similarity).
REGION     2657   2910       AAA 3 (By similarity).
REGION     3021   3275       AAA 4 (By similarity).
REGION     3290   3587       Stalk (By similarity).
REGION     3673   3903       AAA 5 (By similarity).
REGION     4118   4332       AAA 6 (By similarity).
COILED      145    169       Potential.
COILED     1543   1567       Potential.
COILED     3313   3405       Potential.
COILED     3531   3583       Potential.
COILED     3836   3871       Potential.
COMPBIAS     10     54       Pro-rich.
MOD_RES     917    917       Phosphoserine (By similarity).
VAR_SEQ       1   3671       Missing (in isoform 3).
                             /FTId=VSP_022615.
VAR_SEQ    4200   4202       GGW -> VCN (in isoform 2).
                             /FTId=VSP_022616.
VAR_SEQ    4203   4731       Missing (in isoform 2).
                             /FTId=VSP_022617.
CONFLICT    127    128       GI -> RL (in Ref. 1; AAK60623/AAK60624/
                             AAK60632).
CONFLICT    424    424       R -> C (in Ref. 1; AAK60623/AAK60624/
                             AAK60632).
CONFLICT    567    567       C -> R (in Ref. 1; AAK60621/AAK60622).
CONFLICT    813    813       T -> R (in Ref. 1; AAK60623/AAK60624/
                             AAK60632).
CONFLICT    963    963       D -> N (in Ref. 1; AAK60623/AAK60624/
                             AAK60632).
CONFLICT    982    982       T -> A (in Ref. 1; AAK60623/AAK60624/
                             AAK60632).
CONFLICT   1051   1051       E -> K (in Ref. 1; AAK60623/AAK60624/
                             AAK60632).
CONFLICT   1291   1291       K -> E (in Ref. 1; AAK60623/AAK60624/
                             AAK60632).
CONFLICT   1421   1421       V -> I (in Ref. 1; AAK60623/AAK60624/
                             AAK60632).
CONFLICT   1429   1429       K -> Q (in Ref. 1; AAK60621/AAK60622/
                             AAK60623/AAK60624/AAK60632/AAK18309).
CONFLICT   1437   1437       N -> S (in Ref. 1; AAK60623/AAK60624/
                             AAK60632).
CONFLICT   1463   1463       V -> E (in Ref. 1; AAK60623/AAK60624/
                             AAK60632).
CONFLICT   1566   1566       A -> G (in Ref. 1; AAK60623/AAK60624/
                             AAK60632).
CONFLICT   1569   1569       D -> N (in Ref. 1; AAK60623/AAK60624/
                             AAK60632).
CONFLICT   2060   2060       L -> F (in Ref. 5; CAB06071).
CONFLICT   2157   2157       Y -> N (in Ref. 5; CAB06071).
CONFLICT   2164   2164       K -> R (in Ref. 5; CAB06071).
CONFLICT   2167   2167       K -> T (in Ref. 5; CAB06071).
CONFLICT   2224   2224       V -> A (in Ref. 1; AAK60623/AAK60624/
                             AAK60632).
CONFLICT   2264   2264       N -> A (in Ref. 5; CAB06071).
CONFLICT   3408   3408       P -> T (in Ref. 1; AAK60623/AAK60624/
                             AAK60632).
CONFLICT   3893   3893       I -> V (in Ref. 1; AAK60623/AAK60624/
                             AAK60632).
CONFLICT   4229   4229       E -> K (in Ref. 1; AAK60623).
CONFLICT   4310   4310       L -> W (in Ref. 2; BAE21572).
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Nucleotide Sequence
Length: 14586 bp   Go to nucleotide: FASTA
Protein Sequence
Length: 4731 bp   Go to amino acid: FASTA
The verified Protein-Protein interaction information
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